"Mol Syndromol"[jour] - Search Results

Year	Number of Results
2010	27
2011	29
2012	67
2013	57
2014	40
2015	39
2016	73
2017	58
2018	52
2019	63
2020	65
2021	76
2022	93
2023	102
2024	124
2025	86

1

Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report.

Bilgeç N, Eklioğlu BS, Gün Hİ, Balasar Ö, Atabek ME, Çaksen H. Bilgeç N, et al. Mol Syndromol. 2025 Sep 9. doi: 10.1159/000548361. Online ahead of print. Mol Syndromol. 2025. PMID: 41220405 Free PMC article.

2

High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.

Başdemirci M, Balasar Ö, Bulut O, Tunçez E, Duymuş F, Çavdartepe BE, Şimşek L, Çelik H. Başdemirci M, et al. Mol Syndromol. 2025 Aug;16(4):311-319. doi: 10.1159/000546400. Epub 2025 May 20. Mol Syndromol. 2025. PMID: 41169655

3

A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature.

Akalın A, Koç N, Özşin-Özler C, Karaosmanoglu B, Ürel-Demir G, Taskiran EZ, Utine GE, Uzamış-Tekçiçek M, Şimşek-Kiper PÖ. Akalın A, et al. Mol Syndromol. 2025 Aug;16(4):291-310. doi: 10.1159/000544806. Epub 2025 Feb 24. Mol Syndromol. 2025. PMID: 41163957 Free PMC article.

4

Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion.

Zocche D, Platts L, Younes M, Flemming A, Naqvi N, Cobben J, Van Dijk F. Zocche D, et al. Mol Syndromol. 2025 Jan 2. doi: 10.1159/000543371. Online ahead of print. Mol Syndromol. 2025. PMID: 41078619 Free PMC article.

5

Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels.

Kendir-Demirkol Y, Yeter B, Eser M, Yarar MH. Kendir-Demirkol Y, et al. Mol Syndromol. 2025 Mar 18. doi: 10.1159/000545192. Online ahead of print. Mol Syndromol. 2025. PMID: 41078618 Free PMC article.

6

Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?

Koyuncuoglu MA, Taylan Sekeroglu H, Urel Demir G, Simsek Kiper O, Karakaya J, Utine GE. Koyuncuoglu MA, et al. Mol Syndromol. 2025 Jan 2. doi: 10.1159/000543395. Online ahead of print. Mol Syndromol. 2025. PMID: 41078617 Free PMC article.

7

First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review.

Güleç A, Gerik-Celebi HB. Güleç A, et al. Mol Syndromol. 2025 Jul 17. doi: 10.1159/000547413. Online ahead of print. Mol Syndromol. 2025. PMID: 41064058 Free PMC article.

8

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.

Dursun E, Uctepe E, Guler S, Mancilar H, Yesilyurt A. Dursun E, et al. Mol Syndromol. 2025 Aug 21. doi: 10.1159/000547120. Online ahead of print. Mol Syndromol. 2025. PMID: 41064057 Free PMC article.

9

Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report.

Yılmaz FH, Kahraman AB, Duymuş F, Koçak Eker H, Çelik H, Büyükeren M, Özcan B, Keçeci R. Yılmaz FH, et al. Mol Syndromol. 2025 Aug 20. doi: 10.1159/000547752. Online ahead of print. Mol Syndromol. 2025. PMID: 41064056 Free PMC article.

10

CRTAP-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in CRTAP.

Travessa AM, Romeu JC, Mirco T, Vaz-de-Macedo C, Palma MJ, Modamio-Høybjør S, Barreiros C, Magalhães A, Barão RC, Heath KE, Sousa AB. Travessa AM, et al. Mol Syndromol. 2025 Aug 20. doi: 10.1159/000547923. Online ahead of print. Mol Syndromol. 2025. PMID: 41064055 Free PMC article.

11

Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.

Malgarezi de Moraes N, Diniz BL, Böttcher AK, Nunes MR, Mergener R, Gazzola Zen PR. Malgarezi de Moraes N, et al. Mol Syndromol. 2025 Jul 14. doi: 10.1159/000547412. Online ahead of print. Mol Syndromol. 2025. PMID: 41064054 Free PMC article.

12

Different Clinic, Different Diagnosis: Tyrosinemia Type 3.

Basan H, Ceylaner S, Küçükcongar Yavaş A. Basan H, et al. Mol Syndromol. 2025 Aug 8. doi: 10.1159/000547808. Online ahead of print. Mol Syndromol. 2025. PMID: 41064053 Free PMC article.

13

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Taşdelen E, Gönül M, Öztelcan Gündüz B, Üner Ç, Büke A, Sezer A. Taşdelen E, et al. Mol Syndromol. 2025 Jul 17. doi: 10.1159/000547411. Online ahead of print. Mol Syndromol. 2025. PMID: 41064052

14

A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7.

Yang X, Zhou X, Zhou C, Li C, Wu S, Zhou Y, Du J, Guo X, Huang X. Yang X, et al. Mol Syndromol. 2025 Jul 11. doi: 10.1159/000547307. Online ahead of print. Mol Syndromol. 2025. PMID: 41064051 Free PMC article.

15

A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family.

Cesur Baltacı HN, Sağlam Ada B, Yürür Kutlay N, Tükün A, Teber ST, Coşkun T. Cesur Baltacı HN, et al. Mol Syndromol. 2025 Jun 23. doi: 10.1159/000547016. Online ahead of print. Mol Syndromol. 2025. PMID: 41064050 Free PMC article.

16

Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report.

Alvey L, Viswanath V, Owens JW, Shillington A. Alvey L, et al. Mol Syndromol. 2025 Jul 2. doi: 10.1159/000546948. Online ahead of print. Mol Syndromol. 2025. PMID: 41064049 Free PMC article.

17

A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations.

Burgac E, Yoldas Celik M, Köseci B, Koc Ucar H. Burgac E, et al. Mol Syndromol. 2025 Jul 9. doi: 10.1159/000547293. Online ahead of print. Mol Syndromol. 2025. PMID: 41064048 Free PMC article.

18

A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly.

Dirimtekin E, Kapazan Ç, Yılmaz B, Yanık AM, Geckinli BB. Dirimtekin E, et al. Mol Syndromol. 2025 Oct;16(5):498-506. doi: 10.1159/000544916. Epub 2025 Mar 3. Mol Syndromol. 2025. PMID: 41059452 Free PMC article.

19

A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda.

Yasar D, Güleray Lafcı N, Karacan Küçükali G, Araslı Yılmaz A, Özkaya Dönmez B, Yazar BT, Uçan B, Okur İ, Sarıkaya Özdemir B, Kurnaz E, Keskin M, Savaş Erdeve Ş. Yasar D, et al. Mol Syndromol. 2025 Oct;16(5):461-468. doi: 10.1159/000543039. Epub 2024 Dec 9. Mol Syndromol. 2025. PMID: 41059451 Free PMC article.

20

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Küçükçongar Yavaş A, Özbey SZ, Ergin B, Ünal Y, Bilginer Gürbüz B, Karaatmaca B, Özyürek H, Oflaz O, Basan H, Kasapkara ÇS. Küçükçongar Yavaş A, et al. Mol Syndromol. 2025 Oct;16(5):476-488. doi: 10.1159/000542617. Epub 2024 Nov 26. Mol Syndromol. 2025. PMID: 41059450 Free PMC article.

21

Genetics of Mitochondrial Aminoacyl-tRNA Synthetases Associated with Sensorineural Hearing Loss.

Xu B, Chai J, Bian P, Guo Y. Xu B, et al. Mol Syndromol. 2025 Oct;16(5):449-460. doi: 10.1159/000542981. Epub 2024 Dec 19. Mol Syndromol. 2025. PMID: 41059449 Free PMC article. Review.

22

A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy.

Şenol HB, Günay Ç, Polat Aİ, Aydın A, Hız AS, Yiş U. Şenol HB, et al. Mol Syndromol. 2025 Oct;16(5):469-475. doi: 10.1159/000543054. Epub 2024 Dec 10. Mol Syndromol. 2025. PMID: 41059448 Free PMC article.

23

Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability.

Günay Ç, Gazeteci Tekin H. Günay Ç, et al. Mol Syndromol. 2025 Oct;16(5):489-497. doi: 10.1159/000547189. Epub 2025 Jul 2. Mol Syndromol. 2025. PMID: 41059447

24

A Novel X-Linked Variant c.1772delG (p.G591fs*20) in IRS4 in Two Related Patients with Central Hypothyroidism.

Köprülü Ö, Tozkır H. Köprülü Ö, et al. Mol Syndromol. 2025 Jan 27. doi: 10.1159/000543796. Online ahead of print. Mol Syndromol. 2025. PMID: 41048878 Free PMC article.

25

A New Family with X-Linked Intellectual Disability 90: A Case Report of a Novel DLG3 Variant and Literature Review.

Alavanda C, Çıkı K. Alavanda C, et al. Mol Syndromol. 2025 May 20:1-7. doi: 10.1159/000546429. Online ahead of print. Mol Syndromol. 2025. PMID: 40881055

26

A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.

Smith MJ, Shell EJ, Burghel GJ, Carney M, Waller SJ, Hakim A, Evans DG. Smith MJ, et al. Mol Syndromol. 2025 Mar 24:1-6. doi: 10.1159/000545453. Online ahead of print. Mol Syndromol. 2025. PMID: 40881054 Free PMC article.

27

Clinical and Genetic Aspects of Verheij Syndrome in Two Cases.

Kursat YD, Sezginer Guler H, Zhuri D, Gurkan H, Yalcintepe S. Kursat YD, et al. Mol Syndromol. 2025 Mar 25:1-8. doi: 10.1159/000545448. Online ahead of print. Mol Syndromol. 2025. PMID: 40881056 Free PMC article.

28

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

Zechi-Ceide RM, Serigatto HR, Galvanin AL, Rafacho MB, Kokitsu-Nakata NM, Guion-Almeida ML, Di Donato N. Zechi-Ceide RM, et al. Mol Syndromol. 2025 Aug;16(4):390-396. doi: 10.1159/000542536. Epub 2024 Nov 13. Mol Syndromol. 2025. PMID: 40771191 Free PMC article.

29

C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis.

Eslamiyeh H, Sefid F, Iravani F. Eslamiyeh H, et al. Mol Syndromol. 2025 Aug;16(4):335-341. doi: 10.1159/000542176. Epub 2024 Nov 29. Mol Syndromol. 2025. PMID: 40771190 Free PMC article.

30

Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study.

Karadag M, Turan MI, Celebi C, Caglar T. Karadag M, et al. Mol Syndromol. 2025 Aug;16(4):354-365. doi: 10.1159/000542453. Epub 2024 Nov 11. Mol Syndromol. 2025. PMID: 40771189 Free PMC article.

31

Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience.

Demir E, Bulut FD, Bilginer-Gürbüz B, Döğen ME, İşlek A, Mermer S, Başer B, Ürel-Demir G. Demir E, et al. Mol Syndromol. 2025 Aug;16(4):320-326. doi: 10.1159/000542594. Epub 2024 Nov 13. Mol Syndromol. 2025. PMID: 40771188 Free PMC article.

32

A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature.

Talea A, Bayat S, Khan GS, Pak N, Aziz-Ahari S, Sinaei R, Tavasoli AR, Ashrafi MR, Heidari M. Talea A, et al. Mol Syndromol. 2025 Aug;16(4):366-373. doi: 10.1159/000542145. Epub 2024 Nov 27. Mol Syndromol. 2025. PMID: 40771187 Free PMC article.

33

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.

Dinçsoy Bir F, Uyguner ZO, Karaman B, Baykal C, Büyükbabani N, Tüysüz B, Gedikbaşı A, Uyanık B, Toksoy G, Kara B, Kayserili H. Dinçsoy Bir F, et al. Mol Syndromol. 2025 Aug;16(4):327-334. doi: 10.1159/000542675. Epub 2024 Nov 19. Mol Syndromol. 2025. PMID: 40771186 Free PMC article.

34

A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype.

Pasa ID, Frey AC, Ferraciolli SF, Lucato LT, Azevedo Carvalho M, Pagotto MVC, Burlacchini De Carvalho MH, Pulcineli Vieira Francisco R, Honjo RS, Bertola DR, Kim CA. Pasa ID, et al. Mol Syndromol. 2025 Aug;16(4):384-389. doi: 10.1159/000542432. Epub 2024 Nov 7. Mol Syndromol. 2025. PMID: 40771185 Free PMC article.

35

Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants.

Kaymakcalan Celebiler H, Barak T, Rai DK, Kaya I, Erbilgin S, Cikili Uytun M, Oztop D, Gumus H, Per H, Ceylaner S, Bozkurt I, Kontaridis MI, Bilguvar K, Akhun N, Kilincaslan A, Caglayan AO, Erson-Omay EZ, Gunel M, Ercan-Sencicek AG. Kaymakcalan Celebiler H, et al. Mol Syndromol. 2025 Aug;16(4):342-353. doi: 10.1159/000542367. Epub 2024 Nov 6. Mol Syndromol. 2025. PMID: 40771184 Free PMC article.

36

Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype.

Nair P, Bizzari S, Mehawej C, Chouery E, Audi P, Corbani S, Korban R, Mahfoud D, Superti-Furga A, El-Hayek S, Megarbane A. Nair P, et al. Mol Syndromol. 2025 Aug;16(4):374-383. doi: 10.1159/000542345. Epub 2024 Nov 28. Mol Syndromol. 2025. PMID: 40771183 Free PMC article.

37

CRB2-Related Syndrome in 2 New Patients: Three Novel Variants.

Doğan Arı AB, Türkyılmaz A, Çiftçi Pınar N, Turhan U, Keçeli AM, Bayrakçı US, Kılıç E. Doğan Arı AB, et al. Mol Syndromol. 2025 Jul 2. doi: 10.1159/000547159. Online ahead of print. Mol Syndromol. 2025. PMID: 40734719 Free PMC article.

38

A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly.

Javed Khan M, Abdullah, Khan H, Zaman A, Ahmed S, Iqbal P, Bilal M, Ullah K, Hasni MS, Ullah I, Mis EK, Lakhani SA, Ahmad W. Javed Khan M, et al. Mol Syndromol. 2024 Dec;15(6):443-449. doi: 10.1159/000539279. Epub 2024 Jun 20. Mol Syndromol. 2024. PMID: 40657133 Free PMC article.

39

A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.

Ates K, Ozturk M, Esener Z, Sigirci A, Tekedereli I. Ates K, et al. Mol Syndromol. 2025 May 28. doi: 10.1159/000546621. Online ahead of print. Mol Syndromol. 2025. PMID: 40636265 Free PMC article.

40

Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.

Tabanli G, Hazan F, Ozer G, Koprulu O, Nalbantoglu O, Ozkan B. Tabanli G, et al. Mol Syndromol. 2025 Jun 3. doi: 10.1159/000546324. Online ahead of print. Mol Syndromol. 2025. PMID: 40620719 Free PMC article.

41

Abnormal PAR1/2 Number Can Influence Effector T Cell Subsets in Turner Syndrome.

Miyakoshi A, Sueyoshi S, Ijuin A, Hamada H, Nishi M, Tochihara S, Saito M, Ueno H, Kasai M, Saito S, Asano R, Mizushima T, Miyagi E, Murase M, Tanoshima M, Sakakibara H, Hayama T. Miyakoshi A, et al. Mol Syndromol. 2025 May 20:1-11. doi: 10.1159/000546378. Online ahead of print. Mol Syndromol. 2025. PMID: 40567938 Free PMC article.

42

Erratum.

[No authors listed] [No authors listed] Mol Syndromol. 2025 Jun 19:1. doi: 10.1159/000546546. Online ahead of print. Mol Syndromol. 2025. PMID: 40547079 Free PMC article.

43

First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations.

Ketenci-İşlek S, Ürel-Demir G, Utine GE, Şimşek-Kiper PÖ. Ketenci-İşlek S, et al. Mol Syndromol. 2025 May 2:1-6. doi: 10.1159/000546167. Online ahead of print. Mol Syndromol. 2025. PMID: 40538467 Free PMC article.

44

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Erkan DD, Soğukpınar M, Demir GÜ, Utine GE, Şimşek-Kiper PÖ. Erkan DD, et al. Mol Syndromol. 2025 May;16(3):283-290. doi: 10.1159/000541941. Epub 2024 Nov 19. Mol Syndromol. 2025. PMID: 40475176 Free PMC article.

45

Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene.

Tan M, Turgut M, Özdemir ÖMA, Karaer K. Tan M, et al. Mol Syndromol. 2025 May;16(3):259-263. doi: 10.1159/000541401. Epub 2024 Oct 15. Mol Syndromol. 2025. PMID: 40475175 Free PMC article.

46

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.

Kolkıran A, Daşar T, Kablan A, Şimşek-Kiper PÖ. Kolkıran A, et al. Mol Syndromol. 2025 May;16(3):247-251. doi: 10.1159/000541135. Epub 2024 Sep 19. Mol Syndromol. 2025. PMID: 40475174 Free PMC article.

47

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review.

Ağır H, Sunar İ, Mutlu MB. Ağır H, et al. Mol Syndromol. 2025 May;16(3):223-234. doi: 10.1159/000542596. Epub 2024 Nov 13. Mol Syndromol. 2025. PMID: 40475173 Free PMC article.

48

Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features.

Minotti C, Graziani L, Micalizzi A, Dentici ML, Capolino R, Sinibaldi L, Lanari V, Dallapiccola B, Novelli G, Novelli A, Digilio MC. Minotti C, et al. Mol Syndromol. 2025 May;16(3):252-258. doi: 10.1159/000541070. Epub 2024 Oct 10. Mol Syndromol. 2025. PMID: 40475172 Free PMC article.

49

Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene.

Atasay R, Yilmaz LN, Gulec A, Canpolat M, Per H, Kardas F, Ozsait Selcuk B, Karaman B, Kiraz A, Dundar M. Atasay R, et al. Mol Syndromol. 2025 May;16(3):271-277. doi: 10.1159/000541717. Epub 2024 Oct 29. Mol Syndromol. 2025. PMID: 40475171 Free PMC article.

50

Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene.

Kolkiran A, Daşar T, Taşdelen E, Kaya Ö. Kolkiran A, et al. Mol Syndromol. 2025 May;16(3):264-270. doi: 10.1159/000541665. Epub 2024 Oct 24. Mol Syndromol. 2025. PMID: 40475170 Free PMC article.

51

Association of MicroRNA-146a-5p Polymorphism with Cognitive Impairment in Adolescents with Depressive Disorder.

Xie C, Hu Q, Zhang C, Deng K. Xie C, et al. Mol Syndromol. 2025 May;16(3):216-222. doi: 10.1159/000542064. Epub 2024 Nov 29. Mol Syndromol. 2025. PMID: 40475169 Free PMC article.

52

The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review.

Li M, Wang S, Zhang H, Meng B, Wu Y. Li M, et al. Mol Syndromol. 2025 May;16(3):201-207. doi: 10.1159/000541266. Epub 2024 Oct 30. Mol Syndromol. 2025. PMID: 40475168 Free PMC article. Review.

53

Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship.

Sezginer Guler H, Zhuri D, Yalcintepe S, Altay S, Deveci M, Demir S, Gurlertop HY, Atli E, Atli Eİ, Gurkan H. Sezginer Guler H, et al. Mol Syndromol. 2025 May;16(3):235-246. doi: 10.1159/000542097. Epub 2024 Nov 26. Mol Syndromol. 2025. PMID: 40475167 Free PMC article.

54

A Colombian Boy with a Novel de novo PURA Variant: A Case Report.

Sinisterra-Díaz SE, Vasquez-Forero DM, Ordoñez L, Prieto LE, Pachajoa H. Sinisterra-Díaz SE, et al. Mol Syndromol. 2025 May;16(3):278-282. doi: 10.1159/000541654. Epub 2024 Oct 31. Mol Syndromol. 2025. PMID: 40475166 Free PMC article.

55

Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey.

Anlas O, Ozalp O, Cetinkunar S. Anlas O, et al. Mol Syndromol. 2025 May;16(3):208-215. doi: 10.1159/000541313. Epub 2024 Oct 4. Mol Syndromol. 2025. PMID: 40475165 Free PMC article.

56

A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.

Zeng L, Nie J, Zhu S, Wang J, Deng Y, Zhu H, Wang X, Xi N. Zeng L, et al. Mol Syndromol. 2025 Apr 17:1-8. doi: 10.1159/000545680. Online ahead of print. Mol Syndromol. 2025. PMID: 40469502 Free PMC article.

57

Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review.

Bilgeç N, Gökdemir M, Balasar Ö, Bedel FM, Çaksen H. Bilgeç N, et al. Mol Syndromol. 2025 Apr 2:1-13. doi: 10.1159/000545533. Online ahead of print. Mol Syndromol. 2025. PMID: 40416445 Free PMC article.

58

D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.

Erdal AE, Gürbüz BB, Yavaş AK, Kasapkara ÇS. Erdal AE, et al. Mol Syndromol. 2025 Mar 28:1-8. doi: 10.1159/000545474. Online ahead of print. Mol Syndromol. 2025. PMID: 40416444 Free PMC article.

59

A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly.

Tan CW, Lim JY, Rafi'ee K, Goh J, Choong CT, Chao SM, Chang B, Jamuar SS, Tan EC. Tan CW, et al. Mol Syndromol. 2025 Apr 2:1-5. doi: 10.1159/000545445. Online ahead of print. Mol Syndromol. 2025. PMID: 40371175 Free PMC article.

60

Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.

Sürücü Kara İ, Duman D, Bademci G, Kuloglu Z, Kaynak Sahap S, Tekin M, Eminoğlu FT. Sürücü Kara İ, et al. Mol Syndromol. 2024 Dec 24:1-9. doi: 10.1159/000543315. Online ahead of print. Mol Syndromol. 2024. PMID: 40352450 Free PMC article.

61

A Patient with Organic Acidemia, Hyperammonemia, and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome.

Keser M, Demirci B, Uçar HK, Akgün Ö, Arslan İ, Gürbüz BB. Keser M, et al. Mol Syndromol. 2025 Apr 1:1-7. doi: 10.1159/000545585. Online ahead of print. Mol Syndromol. 2025. PMID: 40352449 Free PMC article.

62

A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2.

Yeter B, Sezgin BI, Dilek YE, Kendir Demirkol Y, Selamioğlu A, Kırmızıbekmez H, Kaymakçalan Çelebiler H, Bayram Akçapınar G. Yeter B, et al. Mol Syndromol. 2025 Mar 28:1-9. doi: 10.1159/000545570. Online ahead of print. Mol Syndromol. 2025. PMID: 40331102 Free PMC article.

63

Clinical Characterization and Cytogenetic-Molecular Study of a Patient with a Ring Chromosome 12.

da Nóbrega VA, Dos Santos GR, Melaragno MI, Maia RE. da Nóbrega VA, et al. Mol Syndromol. 2025 Mar 20:1-7. doi: 10.1159/000545023. Online ahead of print. Mol Syndromol. 2025. PMID: 40331101 Free PMC article.

64

Erratum.

[No authors listed] [No authors listed] Mol Syndromol. 2025 May 5:1. doi: 10.1159/000545707. Online ahead of print. Mol Syndromol. 2025. PMID: 40331100 Free PMC article.

65

A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism.

Aynacı S, Kocagil S, Yarar C, Tosumoğlu E, Gökalp EE, Mutlu MB, Artan S. Aynacı S, et al. Mol Syndromol. 2025 Mar 25:1-9. doi: 10.1159/000545465. Online ahead of print. Mol Syndromol. 2025. PMID: 40331099 Free PMC article.

66

Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients.

Bahar Ister M, Cinar M, Ceylaner S, Uzun OU. Bahar Ister M, et al. Mol Syndromol. 2025 Apr;16(2):180-186. doi: 10.1159/000541501. Epub 2024 Oct 21. Mol Syndromol. 2025. PMID: 40176842 Free PMC article.

67

Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis.

Ozturk O, Ozturk M, Ates K, Esener Z, Erguven NN, Ozgor B, Gungor S, Sigirci A, Tekedereli I. Ozturk O, et al. Mol Syndromol. 2025 Apr;16(2):115-127. doi: 10.1159/000540762. Epub 2024 Aug 29. Mol Syndromol. 2025. PMID: 40176841 Free PMC article.

68

A Novel Loss of Function Variant in HCN1 Gene Underlies Early Infantile Epileptic Encephalopathy 24 [EIEE24].

Mujahid, Waqas A, Almazni IA, Zaman G, Alam Q, Eid TM, Alanazi MA, Hamadi A, Afsar T, Razak S, Umair M. Mujahid, et al. Mol Syndromol. 2025 Apr;16(2):152-164. doi: 10.1159/000541117. Epub 2024 Oct 9. Mol Syndromol. 2025. PMID: 40176840 Free PMC article.

69

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.

Türkyılmaz A, Sağer SG, Caliskan E, Akçay M, Demir O, Baytar B, Akın Y. Türkyılmaz A, et al. Mol Syndromol. 2025 Apr;16(2):99-114. doi: 10.1159/000540599. Epub 2024 Aug 23. Mol Syndromol. 2025. PMID: 40176839 Free PMC article.

70

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.

Pires LVL, Da Cás E, de Melo LC, Nakaie CMA, Aiello VD, Yamamoto GL, Honjo RS, Kim CA, Bertola DR. Pires LVL, et al. Mol Syndromol. 2025 Apr;16(2):165-170. doi: 10.1159/000540570. Epub 2024 Aug 22. Mol Syndromol. 2025. PMID: 40176838 Free PMC article.

71

A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype.

Ünsal Y, Yıldırım N, Buluş AD, Kılıç E. Ünsal Y, et al. Mol Syndromol. 2025 Apr;16(2):187-193. doi: 10.1159/000541476. Epub 2024 Oct 18. Mol Syndromol. 2025. PMID: 40176837 Free PMC article.

72

Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient.

Colak Y, Yilmaz M, Kart PO, Terali K, Turkyilmaz A, Cansu A. Colak Y, et al. Mol Syndromol. 2025 Apr;16(2):171-179. doi: 10.1159/000540923. Epub 2024 Sep 26. Mol Syndromol. 2025. PMID: 40176836 Free PMC article.

73

Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome.

Linnenkamp BDW, Lacerda Pires LV, Stephan BO, Vilalva KH, Lombardi Peres de Carvalho M, Vicente Pereira Lipari LF, Fernandes F, Krieger JE. Linnenkamp BDW, et al. Mol Syndromol. 2025 Apr;16(2):194-200. doi: 10.1159/000540786. Epub 2024 Sep 17. Mol Syndromol. 2025. PMID: 40176835 Free PMC article.

74

Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia.

Duymus F, Kocak N, Özdemir EM, Esin D, Körez MK, Cora T. Duymus F, et al. Mol Syndromol. 2025 Apr;16(2):128-137. doi: 10.1159/000540898. Epub 2024 Aug 30. Mol Syndromol. 2025. PMID: 40176834 Free PMC article.

75

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy.

Kasapkara ÇS, Civelek Ürey B, Bilginer Gürbüz B, Küçükçongar Yavaş A, Keçeli AM, Öncül Ü, Gündüz M, Biberoğlu G, Çıtak Kurt AN, Gürkaş E, Kılıç E, Güleç Ceylan G, Özbek NY. Kasapkara ÇS, et al. Mol Syndromol. 2025 Apr;16(2):138-151. doi: 10.1159/000540925. Epub 2024 Sep 18. Mol Syndromol. 2025. PMID: 40176833 Free PMC article.

76

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.

Sönmez B, Kocabey M, Polat Aİ, Gürsoy S, Karaoğlu P, Rita Horvath, Schon KR, Ülgenalp A, Yiş U, Çağlayan AO, Giray Bozkaya Ö. Sönmez B, et al. Mol Syndromol. 2025 Feb;16(1):61-68. doi: 10.1159/000540325. Epub 2024 Aug 13. Mol Syndromol. 2025. PMID: 39911178 Free PMC article.

77

A Case of Opsismodysplasia with a Novel INPPL1 Variant.

Daşar T, Aypar E, Utine GE, Şimşek-Kiper PÖ. Daşar T, et al. Mol Syndromol. 2025 Feb;16(1):49-54. doi: 10.1159/000540189. Epub 2024 Sep 30. Mol Syndromol. 2025. PMID: 39911177 Free PMC article.

78

Homozygous Intragenic Deletion in WDR62 in Siblings with Primary Microcephaly.

Singh SM, Maurya RK, Moirangthem A. Singh SM, et al. Mol Syndromol. 2025 Feb;16(1):33-37. doi: 10.1159/000540108. Epub 2024 Jul 20. Mol Syndromol. 2025. PMID: 39911176 Free PMC article.

79

A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism.

Şenol HB, Kısa PT, Kulu B, Ören H, Arslan N, Yiş U. Şenol HB, et al. Mol Syndromol. 2025 Feb;16(1):93-98. doi: 10.1159/000541285. Epub 2024 Oct 3. Mol Syndromol. 2025. PMID: 39911175 Free PMC article.

80

Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.

Gatsis A, Alvanou M, Christidou E, Demertzidou E, Kontou A, Stathopoulou T, Sarafidis K, Sotiriadis A, Ververi A. Gatsis A, et al. Mol Syndromol. 2025 Feb;16(1):38-42. doi: 10.1159/000540088. Epub 2024 Aug 8. Mol Syndromol. 2025. PMID: 39911174 Free PMC article.

81

A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression.

Taroua O, Askander O, Rhou H, Bouhouche A. Taroua O, et al. Mol Syndromol. 2025 Feb;16(1):43-48. doi: 10.1159/000540122. Epub 2024 Jul 24. Mol Syndromol. 2025. PMID: 39911173 Free PMC article.

82

A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.

Bulut G, Turgut GT, Toksoy G, Altunoğlu U, Aslanger AD, Uyguner ZO, Karaman B. Bulut G, et al. Mol Syndromol. 2025 Feb;16(1):69-76. doi: 10.1159/000540314. Epub 2024 Aug 13. Mol Syndromol. 2025. PMID: 39911172 Free PMC article.

83

PACS2, PACS1, and VACTERL: A Clinical Overlap.

Massey H, Tennant S, Dean J; DDD study. Massey H, et al. Mol Syndromol. 2025 Feb;16(1):29-32. doi: 10.1159/000539473. Epub 2024 Aug 7. Mol Syndromol. 2025. PMID: 39911171 Free PMC article.

84

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene.

Yalçın HY, Karabay U, Cinleti T, Teke Kısa P, Eğrilmez MY, Ayaz A, Aydın N. Yalçın HY, et al. Mol Syndromol. 2025 Feb;16(1):1-10. doi: 10.1159/000540339. Epub 2024 Aug 21. Mol Syndromol. 2025. PMID: 39911170 Free PMC article.

85

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.

Kablan A, Aru EE. Kablan A, et al. Mol Syndromol. 2025 Feb;16(1):55-60. doi: 10.1159/000540207. Epub 2024 Jul 29. Mol Syndromol. 2025. PMID: 39911169 Free PMC article.

86

A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.

Mekkawy MK, Kamel AK, Refaat KM, Madian A, Issa M, Abd Allah SG, Eid OM, Zaki MS, Mohamed AM. Mekkawy MK, et al. Mol Syndromol. 2025 Feb;16(1):11-28. doi: 10.1159/000540454. Epub 2024 Aug 28. Mol Syndromol. 2025. PMID: 39911168 Free PMC article.

87

Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2.

Simsek E, Eren SE, Cayir A, Tokur O, Cilingir O, Simsek T. Simsek E, et al. Mol Syndromol. 2025 Feb;16(1):77-86. doi: 10.1159/000540377. Epub 2024 Aug 22. Mol Syndromol. 2025. PMID: 39911167 Free PMC article.

88

A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits.

Shankarappa B, Prasad VP, Kumar S, Rao RS, Royal AB, Swamy M, Prasad P, Niranjana Murthy AS, Ganesh S, Viswanath B, Jain S, Purushottam M, Thyloth M. Shankarappa B, et al. Mol Syndromol. 2025 Feb;16(1):87-92. doi: 10.1159/000541167. Epub 2024 Oct 8. Mol Syndromol. 2025. PMID: 39911166 Free PMC article.

89

Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation.

Chen N, Zeng W, Luo Y, Dong M. Chen N, et al. Mol Syndromol. 2024 Dec;15(6):495-502. doi: 10.1159/000538979. Epub 2024 May 30. Mol Syndromol. 2024. PMID: 39634249 Free PMC article.

90

RMND1 Mutation Case Report and Literature Review.

Bayrak H, Sezer A, Kılıç M. Bayrak H, et al. Mol Syndromol. 2024 Dec;15(6):487-494. doi: 10.1159/000538930. Epub 2024 May 22. Mol Syndromol. 2024. PMID: 39634248 Free PMC article.

91

Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant.

Rahmuni Y, El Kadiri Y, Lyahyai J, Birouk N, Nesnassi M, Sefiani A, Ratbi I. Rahmuni Y, et al. Mol Syndromol. 2024 Dec;15(6):517-522. doi: 10.1159/000538917. Epub 2024 Jun 10. Mol Syndromol. 2024. PMID: 39634247 Free PMC article.

92

Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations.

Emam BA, Abdel-Hamid MS, Eid M, Girgis M, Ragab OA, Zaki MS, El-Kiki H, Abdel-Hady S, Abdel-Salam GMH. Emam BA, et al. Mol Syndromol. 2024 Dec;15(6):474-480. doi: 10.1159/000539364. Epub 2024 Jun 20. Mol Syndromol. 2024. PMID: 39634246 Free PMC article.

93

Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies.

Doğulu N, Köse E, Ceylaner S, Kasapkara ÇS, Bozaci AE, Oncul U, Eminoğlu FT. Doğulu N, et al. Mol Syndromol. 2024 Dec;15(6):450-463. doi: 10.1159/000539034. Epub 2024 Jun 17. Mol Syndromol. 2024. PMID: 39634245 Free PMC article.

94

Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome.

Srividhya D, Parambath SV, Sathyanarayanan R, Huligerepura Sosalegowda A, Korlimarla A, Niranjana Murthy AS, Prabhakaran N, Vijayanand M, Gowda NKC. Srividhya D, et al. Mol Syndromol. 2024 Dec;15(6):537-544. doi: 10.1159/000539400. Epub 2024 Jun 20. Mol Syndromol. 2024. PMID: 39634244 Free PMC article.

95

Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.

de Oliveira-Sobrinho RP; Rare Genomes Project Consortium; Vieira TP, Steiner CE. de Oliveira-Sobrinho RP, et al. Mol Syndromol. 2024 Dec;15(6):523-530. doi: 10.1159/000538012. Epub 2024 Mar 27. Mol Syndromol. 2024. PMID: 39634243 Free PMC article.

96

Erratum.

[No authors listed] [No authors listed] Mol Syndromol. 2024 Dec;15(6):546. doi: 10.1159/000540035. Epub 2024 Jul 31. Mol Syndromol. 2024. PMID: 39634242 Free PMC article.

97

Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation.

Pal S, Kulshrestha S, Garg N, Gupta D, Gupta ND, Puri RD. Pal S, et al. Mol Syndromol. 2024 Dec;15(6):503-516. doi: 10.1159/000539099. Epub 2024 Jun 10. Mol Syndromol. 2024. PMID: 39634241 Free PMC article.

98

Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene.

Ciki K, Alavanda C. Ciki K, et al. Mol Syndromol. 2024 Dec;15(6):531-536. doi: 10.1159/000539280. Epub 2024 Jun 11. Mol Syndromol. 2024. PMID: 39634240 Free PMC article.

99

A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy.

Caliskan E, Sager SG, Ayaz A, Teralı K, Gunbey HP. Caliskan E, et al. Mol Syndromol. 2024 Dec;15(6):481-486. doi: 10.1159/000538900. Epub 2024 May 20. Mol Syndromol. 2024. PMID: 39634239 Free PMC article.

100

Investigation of Genetic Changes in Three Families with Bipolar Disease.

Çolak-Geniş E, Özdemir Erdoğan M, Çam FS, Aydemir Ö, Akin F, Gerik-Celebi HB, Solak M. Çolak-Geniş E, et al. Mol Syndromol. 2024 Dec;15(6):464-473. doi: 10.1159/000539115. Epub 2024 Jun 14. Mol Syndromol. 2024. PMID: 39634238 Free PMC article.

101

Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report.

Amllal N, Lyahyai J, Elalaoui SC, El Kadiri Y, Sefiani A. Amllal N, et al. Mol Syndromol. 2024 Oct;15(5):421-426. doi: 10.1159/000538115. Epub 2024 Apr 2. Mol Syndromol. 2024. PMID: 39359953 Free PMC article.

102

Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome.

Güven NE, Uçmak H, İlter Uçar Ç, Havan M, Yıldırım M, Teber S, Kendirli T. Güven NE, et al. Mol Syndromol. 2024 Oct;15(5):398-402. doi: 10.1159/000538015. Epub 2024 Mar 27. Mol Syndromol. 2024. PMID: 39359952 Free PMC article.

103

A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum.

Daşar T, Kolkıran A, Sezer A, Bal E, Kılıç E. Daşar T, et al. Mol Syndromol. 2024 Oct;15(5):409-420. doi: 10.1159/000537869. Epub 2024 Apr 16. Mol Syndromol. 2024. PMID: 39359951 Free PMC article.

104

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.

Yalçınkaya B, Sağlam KA, Terali K, Tekin E, Taslak H, Türkyılmaz A. Yalçınkaya B, et al. Mol Syndromol. 2024 Oct;15(5):380-388. doi: 10.1159/000538676. Epub 2024 Apr 30. Mol Syndromol. 2024. PMID: 39359950 Free PMC article.

105

A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes.

Sandal S, Kayhan G, Kahvecioglu D, Vezir E, Kilic A, Köse A, Tas Ersun M, Derme T, Bahap Y, Dereci S, Hizli S. Sandal S, et al. Mol Syndromol. 2024 Oct;15(5):427-431. doi: 10.1159/000538395. Epub 2024 Apr 12. Mol Syndromol. 2024. PMID: 39359949 Free PMC article.

106

Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract.

Oztepe T, Sahin FI, Yilmaz AC, Baskin E, Haberal M, Terzi YK. Oztepe T, et al. Mol Syndromol. 2024 Oct;15(5):371-379. doi: 10.1159/000538653. Epub 2024 Apr 24. Mol Syndromol. 2024. PMID: 39359948 Free PMC article.

107

EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable.

Prasun P, Patra K. Prasun P, et al. Mol Syndromol. 2024 Oct;15(5):403-408. doi: 10.1159/000538059. Epub 2024 Mar 27. Mol Syndromol. 2024. PMID: 39359947 Free PMC article.

108

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.

Bertrand M, Shah G, Pedersen BS, Schulz A, Weise A, Liehr T, Huppke P, DiTroia S, Quinlan AR, Haack TB, Husain RA. Bertrand M, et al. Mol Syndromol. 2024 Oct;15(5):389-397. doi: 10.1159/000538918. Epub 2024 May 20. Mol Syndromol. 2024. PMID: 39359946 Free PMC article.

109

A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.

Mughal TA, Asim M, Gillani SHUH, Chughtai NO, Batool SA, Hussain A, Shujaat K, Gilani SZT. Mughal TA, et al. Mol Syndromol. 2024 Oct;15(5):355-361. doi: 10.1159/000538039. Epub 2024 Mar 27. Mol Syndromol. 2024. PMID: 39359945 Free PMC article.

110

Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey.

Kocak Eker H, Balasar O. Kocak Eker H, et al. Mol Syndromol. 2024 Oct;15(5):362-370. doi: 10.1159/000538300. Epub 2024 Apr 8. Mol Syndromol. 2024. PMID: 39359944 Free PMC article.

111

Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia.

Al-Hatou M, Safan AS, Atta MA, Siddiqi M. Al-Hatou M, et al. Mol Syndromol. 2024 Oct;15(5):432-436. doi: 10.1159/000538225. Epub 2024 Apr 22. Mol Syndromol. 2024. PMID: 39359943 Free PMC article.

112

Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant.

Orak SA, Gün Bilgiç D, Çerçi Kubur Ç, Atasever AK, Yılmaz C, Polat M. Orak SA, et al. Mol Syndromol. 2024 Oct;15(5):437-442. doi: 10.1159/000538741. Epub 2024 May 10. Mol Syndromol. 2024. PMID: 39359942 Free PMC article.

113

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.

Soğukpınar M, Karaosmanoğlu B, Utine GE, Boduroğlu K, Şimşek-Kiper PÖ. Soğukpınar M, et al. Mol Syndromol. 2024 Aug;15(4):347-354. doi: 10.1159/000537952. Epub 2024 Mar 22. Mol Syndromol. 2024. PMID: 39129839 Free PMC article.

114

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Kasapkara ÇS, Kıreker Köylü O, Engin Erdal A, Yürek B, Ceylan N, Ceylaner S. Kasapkara ÇS, et al. Mol Syndromol. 2024 Aug;15(4):303-310. doi: 10.1159/000536295. Epub 2024 Feb 23. Mol Syndromol. 2024. PMID: 39129838 Free PMC article.

115

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.

İpek R, Çavdartepe BE, Bozdoğan ST, Yiş U. İpek R, et al. Mol Syndromol. 2024 Aug;15(4):311-316. doi: 10.1159/000536344. Epub 2024 Feb 26. Mol Syndromol. 2024. PMID: 39129837 Free PMC article.

116

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants.

Ürel-Demir G, Başer B, Göçmen R, Şimşek-Kiper PÖ, Utine GE, Haliloğlu G. Ürel-Demir G, et al. Mol Syndromol. 2024 Aug;15(4):275-283. doi: 10.1159/000537831. Epub 2024 Mar 18. Mol Syndromol. 2024. PMID: 39119454 Free PMC article.

117

A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?

Bahap Y, Kayhan G. Bahap Y, et al. Mol Syndromol. 2024 Aug;15(4):324-327. doi: 10.1159/000536420. Epub 2024 Feb 23. Mol Syndromol. 2024. PMID: 39119453 Free PMC article.

118

Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature.

Akar HT, Sayar E, Sarıtaş Nakip Ö, Sönmez E, Özkan MB, Olgaç A. Akar HT, et al. Mol Syndromol. 2024 Aug;15(4):333-338. doi: 10.1159/000536676. Epub 2024 Mar 4. Mol Syndromol. 2024. PMID: 39119452 Free PMC article.

119

A Case of Lateral Meningocele Syndrome without Lateral Meningoceles.

Rubadeux D, Owens JW, Shillington A. Rubadeux D, et al. Mol Syndromol. 2024 Aug;15(4):328-332. doi: 10.1159/000536632. Epub 2024 Mar 12. Mol Syndromol. 2024. PMID: 39119451 Free PMC article.

120

Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome.

Graziani L, Carriero ML, Pozzi F, Minotti C, Andreadi A, Bellia A, Ruta R, Bengala M, Novelli A, Lauro D, Novelli G. Graziani L, et al. Mol Syndromol. 2024 Aug;15(4):339-346. doi: 10.1159/000536574. Epub 2024 Mar 22. Mol Syndromol. 2024. PMID: 39119450 Free PMC article.

121

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.

Yılmaz M, Bebek O, Turkyilmaz A. Yılmaz M, et al. Mol Syndromol. 2024 Aug;15(4):317-323. doi: 10.1159/000536343. Epub 2024 Feb 23. Mol Syndromol. 2024. PMID: 39119449 Free PMC article.

122

Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling.

İpek R, Kömür M, Direk MÇ, Bozdoğan ST, Okuyaz Ç. İpek R, et al. Mol Syndromol. 2024 Aug;15(4):297-302. doi: 10.1159/000536183. Epub 2024 Feb 23. Mol Syndromol. 2024. PMID: 39119448 Free PMC article.

123

Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.

Eker HK, Tekeli T. Eker HK, et al. Mol Syndromol. 2024 Aug;15(4):289-296. doi: 10.1159/000536434. Epub 2024 Feb 16. Mol Syndromol. 2024. PMID: 39119447 Free PMC article.

124

Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.

Yalcintepe S, Maras T, Kizilyar I, Sezginer Guler H, Zhuri D, Atli E, Ozen Y, Gurkan H. Yalcintepe S, et al. Mol Syndromol. 2024 Aug;15(4):284-288. doi: 10.1159/000536386. Epub 2024 Feb 16. Mol Syndromol. 2024. PMID: 39119446 Free PMC article.

125

Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome.

Zehri Z, Khan H, Ahmed S, Khan MJ, Shahwani NA, Nawaz S, Umair M. Zehri Z, et al. Mol Syndromol. 2024 Aug;15(4):269-274. doi: 10.1159/000536016. Epub 2024 Feb 8. Mol Syndromol. 2024. PMID: 39119445 Free PMC article.

126

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.

Basdemirci M, Kocak Eker H. Basdemirci M, et al. Mol Syndromol. 2024 Jun;15(3):202-210. doi: 10.1159/000535590. Epub 2023 Dec 28. Mol Syndromol. 2024. PMID: 38841332 Free PMC article.

127

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.

Kolkiran A, Şimşek-Kiper PÖ, Topaloğlu Yasan G, Karaosmanoğlu B, Taşkıran E, Utine GE, Tüz HH, Boduroğlu K. Kolkiran A, et al. Mol Syndromol. 2024 Jun;15(3):175-184. doi: 10.1159/000535407. Epub 2024 Jan 16. Mol Syndromol. 2024. PMID: 38841331 Free PMC article.

128

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene.

Uctepe E, Kandemir N, Bir FD, Karhan AN, Tumer S, Ondes EB, Konuskan B, Yesilyurt A. Uctepe E, et al. Mol Syndromol. 2024 Jun;15(3):251-256. doi: 10.1159/000536072. Epub 2024 Jan 30. Mol Syndromol. 2024. PMID: 38841330 Free PMC article.

129

Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia.

Öktem RM, İnci A, Bayrak H, Demir F, Biberoğlu G, Maviş ME, Gürsu GG, Yılmaz H, Okur İ, Ezgü FS, Tümer L. Öktem RM, et al. Mol Syndromol. 2024 Jun;15(3):185-193. doi: 10.1159/000535853. Epub 2024 Jan 15. Mol Syndromol. 2024. PMID: 38841329 Free PMC article.

130

First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1.

Kendir-Demirkol Y, Yeter B, Yararbaş K. Kendir-Demirkol Y, et al. Mol Syndromol. 2024 Jun;15(3):247-250. doi: 10.1159/000536162. Epub 2024 Jan 31. Mol Syndromol. 2024. PMID: 38841328 Free PMC article.

131

Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.

Yalçın HY, Cinleti T, Yel S, Mutlu MB. Yalçın HY, et al. Mol Syndromol. 2024 Jun;15(3):240-246. doi: 10.1159/000535682. Epub 2024 Jan 24. Mol Syndromol. 2024. PMID: 38841327 Free PMC article.

132

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.

Akalın A, Grzeschik KH, Utine E, Boduroğlu K, Şimşek-Kiper PÖ. Akalın A, et al. Mol Syndromol. 2024 Jun;15(3):217-224. doi: 10.1159/000535681. Epub 2024 Jan 4. Mol Syndromol. 2024. PMID: 38841326 Free PMC article.

133

Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion.

Pires de Oliveira-Sobrinho R, Bispo LM, Heleno JL, Rojas Ayala FR, Reis F, Vieira TP, Steiner CE. Pires de Oliveira-Sobrinho R, et al. Mol Syndromol. 2024 Jun;15(3):225-231. doi: 10.1159/000535240. Epub 2024 Jan 15. Mol Syndromol. 2024. PMID: 38841325 Free PMC article.

134

A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

Hasturk BA, Cinar Ç, Zubarioglu T, Tiryaki-Demir S, Cansever MS, Kiykim E, Kalaycı Yigin A, Yalcinkaya C, Aktuglu-Zeybek C. Hasturk BA, et al. Mol Syndromol. 2024 Jun;15(3):232-239. doi: 10.1159/000535534. Epub 2024 Jan 25. Mol Syndromol. 2024. PMID: 38841324 Free PMC article.

135

Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.

Selamioğlu A, Doğan BY, Balcı MC, Kalaycı T, Karaca M, Ak B, Durmuş A, Körbeyli HK, Gökçay G. Selamioğlu A, et al. Mol Syndromol. 2024 Jun;15(3):257-268. doi: 10.1159/000536069. Epub 2024 Feb 1. Mol Syndromol. 2024. PMID: 38841323 Free PMC article.

136

Novel Mutation in the HSD17B10 Gene Accompanied by Dysmorphic Findings in Female Patients.

Ciki K, Alavanda C, Kara M. Ciki K, et al. Mol Syndromol. 2024 Jun;15(3):211-216. doi: 10.1159/000535589. Epub 2024 Jan 4. Mol Syndromol. 2024. PMID: 38841322 Free PMC article.

137

Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.

Noyan B, Elcioglu NH, Tebani A, Bekri S. Noyan B, et al. Mol Syndromol. 2024 Jun;15(3):194-201. doi: 10.1159/000535888. Epub 2024 Jan 16. Mol Syndromol. 2024. PMID: 38841321 Free PMC article.

138

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.

Rahikkala E, Väisänen T, Ojala L, Pohjola P, Toivonen M, Parkkola R, Haanpää MK. Rahikkala E, et al. Mol Syndromol. 2024 Mar;15(2):149-155. doi: 10.1159/000534772. Epub 2023 Dec 4. Mol Syndromol. 2024. PMID: 38585553 Free PMC article.

139

Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study.

Şanli ZS, Anlaş Ö. Şanli ZS, et al. Mol Syndromol. 2024 Mar;15(2):89-95. doi: 10.1159/000534243. Epub 2023 Oct 20. Mol Syndromol. 2024. PMID: 38585552 Free PMC article.

140

A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome.

Erdogan M, Sunkak S, Bahadır O, Doğan ME, Ada Y, Balta B. Erdogan M, et al. Mol Syndromol. 2024 Mar;15(2):136-142. doi: 10.1159/000534624. Epub 2023 Nov 13. Mol Syndromol. 2024. PMID: 38585551 Free PMC article.

141

Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development.

Miolo G, Colavito D, Della Puppa L, Corona G. Miolo G, et al. Mol Syndromol. 2024 Mar;15(2):167-174. doi: 10.1159/000535057. Epub 2023 Dec 12. Mol Syndromol. 2024. PMID: 38585550 Free PMC article.

142

A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families.

Özkan Kart P, Sahin Y, Yildiz N, Cebi AH, Esenulku G, Cansu A. Özkan Kart P, et al. Mol Syndromol. 2024 Mar;15(2):143-148. doi: 10.1159/000534785. Epub 2023 Nov 14. Mol Syndromol. 2024. PMID: 38585549 Free PMC article.

143

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene.

Kendir-Demirkol Y, Yeter B, Jenny LA. Kendir-Demirkol Y, et al. Mol Syndromol. 2024 Mar;15(2):161-166. doi: 10.1159/000533733. Epub 2023 Sep 28. Mol Syndromol. 2024. PMID: 38585548 Free PMC article.

144

Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype.

Topcu V, Yildirim SF, Turan HM. Topcu V, et al. Mol Syndromol. 2024 Mar;15(2):119-124. doi: 10.1159/000534031. Epub 2023 Nov 3. Mol Syndromol. 2024. PMID: 38585547 Free PMC article.

145

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency.

Basan H, Azak E, Çetin İİ, Kiliç E, Bilginer Gürbüz B, Özbey SZ, Kasapkara ÇS. Basan H, et al. Mol Syndromol. 2024 Mar;15(2):156-160. doi: 10.1159/000534932. Epub 2023 Nov 27. Mol Syndromol. 2024. PMID: 38585546 Free PMC article.

146

Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene.

Cayir A, Turkyilmaz A, Rabenstein H, Guven F, Karagoz YS, Vuralli D, Wabitsch M, Demirbilek H. Cayir A, et al. Mol Syndromol. 2024 Mar;15(2):104-113. doi: 10.1159/000535253. Epub 2023 Dec 19. Mol Syndromol. 2024. PMID: 38585545 Free PMC article.

147

Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.

El Amrani Z, Natiq A, Sbiti A, Ratbi I, Liehr T, Sefiani A, Sahli M. El Amrani Z, et al. Mol Syndromol. 2024 Mar;15(2):125-129. doi: 10.1159/000534432. Epub 2023 Nov 3. Mol Syndromol. 2024. PMID: 38585544 Free PMC article.

148

A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.

Parmeggiani G, Minardi R, Boni A, Pruccoli J, Pini A, Licchetta L, Bisulli F, Graziano C, Seri M. Parmeggiani G, et al. Mol Syndromol. 2024 Mar;15(2):114-118. doi: 10.1159/000535144. Epub 2023 Dec 6. Mol Syndromol. 2024. PMID: 38585543 Free PMC article.

149

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.

Belmokhtar KY, Cherkaoui I, Lhousni S, Elidrissi Errahhali M, Elidrissi Errahhali M, Charif M, Boulouiz R, Ouarzane M, Elouali A, Ghanam A, Babakhouya A, Rkain M, Benajiba N, Bellaoui M. Belmokhtar KY, et al. Mol Syndromol. 2024 Mar;15(2):96-103. doi: 10.1159/000533894. Epub 2023 Sep 29. Mol Syndromol. 2024. PMID: 38585542 Free PMC article.

150

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.

Engin Erdal A, Kıreker Köylü O, Ceylan AC, Kasapkara ÇS, Tunçez E, Topçu M. Engin Erdal A, et al. Mol Syndromol. 2024 Mar;15(2):130-135. doi: 10.1159/000534587. Epub 2023 Nov 8. Mol Syndromol. 2024. PMID: 38585541 Free PMC article.

151

A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient.

Zhuri D, Dusenkalkan F, Tunca Alparslan G, Gurkan H. Zhuri D, et al. Mol Syndromol. 2024 Feb;15(1):43-50. doi: 10.1159/000530585. Epub 2023 May 26. Mol Syndromol. 2024. PMID: 38357263 Free PMC article.

152

Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement.

Wu Y, Liao C, Xie Y, Wang L. Wu Y, et al. Mol Syndromol. 2024 Feb;15(1):71-76. doi: 10.1159/000531769. Epub 2023 Sep 18. Mol Syndromol. 2024. PMID: 38357262 Free PMC article.

153

TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2.

Vafaei N, Mohebbi A, Rezaei Z, Heidari M, Hosseinpour S, Dehnavi AZ, Ghamari A, Salehipour M, Rabbani A, Mahdieh N, Ashrafi MR. Vafaei N, et al. Mol Syndromol. 2024 Feb;15(1):30-36. doi: 10.1159/000534100. Epub 2023 Oct 16. Mol Syndromol. 2024. PMID: 38357261 Free PMC article.

154

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.

Baga M, Ivanovski I, Contrò G, Caraffi SG, Spagnoli C, Cesaroni CA, Neri A, Peluso F, Pollazzon M, Garavelli L, Fusco C. Baga M, et al. Mol Syndromol. 2024 Feb;15(1):63-70. doi: 10.1159/000530410. Epub 2023 Sep 8. Mol Syndromol. 2024. PMID: 38357260 Free PMC article.

155

A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.

Corona-Rivera JR, Rios-Flores IM, Zenteno JC, Peña-Padilla C, Castillo-Reyes K, Bobadilla-Morales L, Corona-Rivera A, Acosta-Fernández E, Bruckman-Jiménez A. Corona-Rivera JR, et al. Mol Syndromol. 2024 Feb;15(1):51-57. doi: 10.1159/000531934. Epub 2023 Aug 18. Mol Syndromol. 2024. PMID: 38357259 Free PMC article.

156

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.

Yavas C, Ozgenturk NO, Dogan M, Gezdirici A, Keskin E, İli EG, Dogan T, Celebi E, Bender O, Un C. Yavas C, et al. Mol Syndromol. 2024 Feb;15(1):1-13. doi: 10.1159/000533915. Epub 2023 Oct 16. Mol Syndromol. 2024. PMID: 38357258 Free PMC article.

157

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.

Sarıkaya Uzan G, Yılmaz Uzman C, Çinleti T, Günay Ç, Ülgenalp A, Hız Kurul S, Yiş U. Sarıkaya Uzan G, et al. Mol Syndromol. 2024 Feb;15(1):14-21. doi: 10.1159/000533976. Epub 2023 Oct 16. Mol Syndromol. 2024. PMID: 38357257 Free PMC article.

158

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate.

Kardas Yildiz A, Bulbul A, Ozer Bekmez B, Turkyilmaz A, Terali K, Dagdeviren Cakir A, Ucar A. Kardas Yildiz A, et al. Mol Syndromol. 2024 Feb;15(1):77-82. doi: 10.1159/000533986. Epub 2023 Oct 2. Mol Syndromol. 2024. PMID: 38357256 Free PMC article.

159

Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders.

Gerik-Celebi HB, Unsel-Bolat G, Bolat H. Gerik-Celebi HB, et al. Mol Syndromol. 2024 Feb;15(1):22-29. doi: 10.1159/000534123. Epub 2023 Oct 16. Mol Syndromol. 2024. PMID: 38357255 Free PMC article.

160

Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report.

Hauschild LA, Seixas Maia da Silva T, Winckler PB, Moreira Cardoso-Júnior L, Saute JAM, Donis KC. Hauschild LA, et al. Mol Syndromol. 2024 Feb;15(1):58-62. doi: 10.1159/000533219. Epub 2023 Aug 22. Mol Syndromol. 2024. PMID: 38357254 Free PMC article.

161

Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.

Ensert Cihan CK, Akar HT, Yıldız Y, Sogukpinar M, Utine GE, Çelik HT. Ensert Cihan CK, et al. Mol Syndromol. 2024 Feb;15(1):83-88. doi: 10.1159/000534380. Epub 2023 Oct 27. Mol Syndromol. 2024. PMID: 38357253 Free PMC article.

162

Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population.

Tan H, Wang Z, Zhang J, Huang M, Chen J, Li F, Tang L. Tan H, et al. Mol Syndromol. 2024 Feb;15(1):37-42. doi: 10.1159/000533637. Epub 2023 Sep 13. Mol Syndromol. 2024. PMID: 38357252 Free PMC article.

163

Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia.

Sugeno N, Hasegawa T, Haginoya K, Kubota T, Ikeda K, Nakamura T, Ishiyama S, Sato K, Yoshida S, Koshimizu E, Uematsu M, Miyatake S, Matsumoto N, Aoki M. Sugeno N, et al. Mol Syndromol. 2023 Dec;14(6):461-468. doi: 10.1159/000530625. Epub 2023 Jun 26. Mol Syndromol. 2023. PMID: 38108041 Free PMC article.

164

TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.

Uctepe E, Yesilyurt A, Esen FN, Tumer S, Mancilar H, Sonmez FM. Uctepe E, et al. Mol Syndromol. 2023 Dec;14(6):485-492. doi: 10.1159/000531439. Epub 2023 Aug 7. Mol Syndromol. 2023. PMID: 38058760 Free PMC article.

165

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.

Rafat K, Abdel-Hamid MS, Abdel-Salam GMH. Rafat K, et al. Mol Syndromol. 2023 Dec;14(6):523-529. doi: 10.1159/000531715. Epub 2023 Aug 14. Mol Syndromol. 2023. PMID: 38058759 Free PMC article.

166

Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease.

Civelek Ürey B, Ceylan AC, Çavdarlı B, Çıtak Kurt AN, Kıreker Köylü O, Yürek B, Kasapkara ÇS. Civelek Ürey B, et al. Mol Syndromol. 2023 Dec;14(6):459-460. doi: 10.1159/000531668. Epub 2023 Aug 18. Mol Syndromol. 2023. PMID: 38058758 Free PMC article. No abstract available.

167

Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.

Bilal M, Haack TB, Buchert R, Peralta S, Ahmad I, Faisal, Abbasi S, Ahmad W. Bilal M, et al. Mol Syndromol. 2023 Dec;14(6):469-476. doi: 10.1159/000531069. Epub 2023 Jun 20. Mol Syndromol. 2023. PMID: 38058757 Free PMC article.

168

Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.

Cesaroni CA, Spagnoli C, Baga M, Rizzi S, Frattini D, Caraffi SG, Pollazzon M, Garavelli L, Fusco C. Cesaroni CA, et al. Mol Syndromol. 2023 Dec;14(6):493-497. doi: 10.1159/000530586. Epub 2023 May 12. Mol Syndromol. 2023. PMID: 38058756 Free PMC article.

169

Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.

Ghasemi A, Sadr Z, Babanejad M, Rohani M, Alavi A. Ghasemi A, et al. Mol Syndromol. 2023 Dec;14(6):477-484. doi: 10.1159/000531507. Epub 2023 Jul 7. Mol Syndromol. 2023. PMID: 38058755 Free PMC article.

170

Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature.

Kocagil S, Şafak İN, Saraç E, Aydın C, Artan S, Kırel B. Kocagil S, et al. Mol Syndromol. 2023 Dec;14(6):509-515. doi: 10.1159/000531429. Epub 2023 Aug 4. Mol Syndromol. 2023. PMID: 38058754 Free PMC article.

171

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.

Eser HC, Ayyildiz Emecen D, Topyildiz E, Isik E, Edeer Karaca N, Atik T, Aksu G, Ozkınay F, Kutukculer N. Eser HC, et al. Mol Syndromol. 2023 Dec;14(6):504-508. doi: 10.1159/000531408. Epub 2023 Aug 7. Mol Syndromol. 2023. PMID: 38058753 Free PMC article.

172

Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome.

Roudbari F, Dallal Amandi AR, Bonyadi M, Sadeghi L, Jabbarpour N. Roudbari F, et al. Mol Syndromol. 2023 Dec;14(6):516-522. doi: 10.1159/000531566. Epub 2023 Aug 10. Mol Syndromol. 2023. PMID: 38058752 Free PMC article.

173

SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven.

Finsterer J. Finsterer J. Mol Syndromol. 2023 Dec;14(6):457-458. doi: 10.1159/000531506. Epub 2023 Jul 5. Mol Syndromol. 2023. PMID: 38058751 Free PMC article. No abstract available.

174

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.

Esen TE, Uzun ÖÜ, Ceylan AC. Esen TE, et al. Mol Syndromol. 2023 Dec;14(6):498-503. doi: 10.1159/000530798. Epub 2023 Jun 7. Mol Syndromol. 2023. PMID: 38058750 Free PMC article.

175

Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.

Rosti G, Boeri S, Divizia MT, Pisciotta L, Mancardi MM, Lerone M, Cerminara M, Servetti M, Spirito G, Vozzi D, Fontana M, Gustincich S, Nobili L, Zara F, Puliti A. Rosti G, et al. Mol Syndromol. 2023 Oct;14(5):433-438. doi: 10.1159/000529408. Epub 2023 May 9. Mol Syndromol. 2023. PMID: 37915395 Free PMC article.

176

Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.

Ghasemi A, Tavasoli AR, Khojasteh M, Rohani M, Alavi A. Ghasemi A, et al. Mol Syndromol. 2023 Oct;14(5):405-415. doi: 10.1159/000529678. Epub 2023 Mar 30. Mol Syndromol. 2023. PMID: 37915394 Free PMC article.

177

Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.

Trizuljak J, Duben J, Blaháková I, Vrzalová Z, Kozubík KS, Štika J, Radová L, Bergerová V, Mejstříková S, Hořínová V, Jančálek R, Pospíšilová Š, Doubek M. Trizuljak J, et al. Mol Syndromol. 2023 Oct;14(5):439-448. doi: 10.1159/000528744. Epub 2023 Jun 2. Mol Syndromol. 2023. PMID: 37908896 Free PMC article.

178

Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.

Kubota N, Takeda R, Kobayashi J, Hidaka E, Nishi E, Takano K, Wakui K. Kubota N, et al. Mol Syndromol. 2023 Oct;14(5):394-404. doi: 10.1159/000530252. Epub 2023 May 23. Mol Syndromol. 2023. PMID: 37901861 Free PMC article.

179

Bogue D, Ryan G, Wassmer E, Research Consortium GE, Naik S. Bogue D, et al. Mol Syndromol. 2023 Oct;14(5):449-456. doi: 10.1159/000530150. Epub 2023 Jun 1. Mol Syndromol. 2023. PMID: 37901860 Free PMC article.

180

Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.

Cárdenas JM, Vergara D, Witting S, Balut F, Guerra P, Mesa JT, Silva S, Tello J, Retamales Á, Barrios A, Pinto F, Faundes V, Troncoso M. Cárdenas JM, et al. Mol Syndromol. 2023 Oct;14(5):416-427. doi: 10.1159/000529807. Epub 2023 Apr 19. Mol Syndromol. 2023. PMID: 37901859 Free PMC article.

181

Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11.

Uzunyayla-Inci G, Kiykim E, Zubarioglu T, Yesil G, Aktuglu Zeybek C. Uzunyayla-Inci G, et al. Mol Syndromol. 2023 Oct;14(5):428-432. doi: 10.1159/000530118. Epub 2023 Apr 21. Mol Syndromol. 2023. PMID: 37901858 Free PMC article.

182

Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.

Bora E, Bulut AY, Cankaya T, Cinleti T, Genç HZ, Ozcan EE, Ozpelit E, Ulgenalp A, Caglayan AO. Bora E, et al. Mol Syndromol. 2023 Oct;14(5):363-374. doi: 10.1159/000530513. Epub 2023 Jun 2. Mol Syndromol. 2023. PMID: 37901857 Free PMC article.

183

Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach.

Bouatrous E, Nouira S, Menif S, Ouragini H. Bouatrous E, et al. Mol Syndromol. 2023 Oct;14(5):375-393. doi: 10.1159/000530173. Epub 2023 May 5. Mol Syndromol. 2023. PMID: 37901856 Free PMC article.

184

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.

Grassi M, Laubscher B, Pandey AV, Tschumi S, Graber F, Schaller A, Janner M, Aeberli D, Hewer E, Nuoffer JM, Gautschi M. Grassi M, et al. Mol Syndromol. 2023 Aug;14(4):347-361. doi: 10.1159/000529306. Epub 2023 Apr 12. Mol Syndromol. 2023. PMID: 37766831 Free PMC article.

185

Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family.

Kavousi S, Pourahmadiyan A, Soleymani F, Noruzinia M. Kavousi S, et al. Mol Syndromol. 2023 Aug;14(4):331-340. doi: 10.1159/000528035. Epub 2023 Mar 31. Mol Syndromol. 2023. PMID: 37766830 Free PMC article.

186

X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.

Ahmed RR, Medhat AM, Hamdy GM, Effat LKE, Abdel-Hamid MS, Abdel-Salam GMH. Ahmed RR, et al. Mol Syndromol. 2023 Aug;14(4):283-292. doi: 10.1159/000529545. Epub 2023 Mar 28. Mol Syndromol. 2023. PMID: 37766829 Free PMC article.

187

Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.

Toral López J, González Huerta LM. Toral López J, et al. Mol Syndromol. 2023 Aug;14(4):341-346. doi: 10.1159/000528980. Epub 2023 Mar 29. Mol Syndromol. 2023. PMID: 37766828 Free PMC article.

188

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.

Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Yeşilmen MC, Lochmüller H, Horvath R, Yiş U, Oktay Y, Hiz Kurul S. Özsoy Ö, et al. Mol Syndromol. 2023 Aug;14(4):322-330. doi: 10.1159/000529494. Epub 2023 Mar 8. Mol Syndromol. 2023. PMID: 37766827 Free PMC article.

189

A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.

Naudhani S, Ahmad A, Khan Bazai F, Pervez MT, Zafar A, Shah SA, Raheem N, Baloch AH, Mushtaq M, Daud S. Naudhani S, et al. Mol Syndromol. 2023 Aug;14(4):293-302. doi: 10.1159/000529427. Epub 2023 Mar 30. Mol Syndromol. 2023. PMID: 37766826 Free PMC article.

190

Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies.

Martínez Anaya D, Juárez-Velázquez MDR, Reyes Ruvalcaba S, Navarrete-Meneses MDP, Salas Labadía C, Lieberman Hernández E, Pérez-Vera P. Martínez Anaya D, et al. Mol Syndromol. 2023 Aug;14(4):310-321. doi: 10.1159/000528472. Epub 2023 Mar 1. Mol Syndromol. 2023. PMID: 37766825 Free PMC article.

191

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.

Wurfbain LF, Cox IL, van Dooren MF, Lachmeijer AMA, Verhoeven VJM, van Hagen JM, Heijligers M, Klein Wassink-Ruiter JS, Koene S, Maas SM, Veenstra-Knol HE, Ploos van Amstel JK, Massink MPG, Mink van der Molen AB, van den Boogaard MH. Wurfbain LF, et al. Mol Syndromol. 2023 Aug;14(4):270-282. doi: 10.1159/000530256. Epub 2023 Jun 8. Mol Syndromol. 2023. PMID: 37589029 Free PMC article.

192

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Izumi K, Ganetzky RD, Wertheim GBW, Skraban CM, Bedoukian EC, Wilkens A, Fincher C, Thomas NH, Ginsberg JP, Rheingold SR, Conlin LK, Deardorff MA. Izumi K, et al. Mol Syndromol. 2023 Aug;14(4):303-309. doi: 10.1159/000530197. Epub 2023 May 5. Mol Syndromol. 2023. PMID: 37589028 Free PMC article.

193

Shifting the Focus of Molecular Syndromology from Individual Diagnoses to Outcome Analyses.

[No authors listed] [No authors listed] Mol Syndromol. 2023 Aug;14(4):267-269. doi: 10.1159/000531738. Epub 2023 Jul 18. Mol Syndromol. 2023. PMID: 37484705 Free PMC article. No abstract available.

194

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome.

Güleray Lafcı N, Karaosmanoglu B, Taskiran EZ, Simsek-Kiper PO, Utine GE. Güleray Lafcı N, et al. Mol Syndromol. 2023 Jun;14(3):258-265. doi: 10.1159/000528769. Epub 2023 Feb 20. Mol Syndromol. 2023. PMID: 37323203 Free PMC article.

195

Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing.

Park JE, Chang SA, Jang SY, Lee KS, Kim DK, Ki CS. Park JE, et al. Mol Syndromol. 2023 Jun;14(3):254-257. doi: 10.1159/000527524. Epub 2023 Feb 1. Mol Syndromol. 2023. PMID: 37323202 Free PMC article.

196

Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy.

Gerik-Celebi HB, Aydin H, Bolat H, Unsel-Bolat G. Gerik-Celebi HB, et al. Mol Syndromol. 2023 Jun;14(3):208-218. doi: 10.1159/000529018. Epub 2023 Mar 14. Mol Syndromol. 2023. PMID: 37323201 Free PMC article.

197

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.

Tilemis FN, Marinakis NM, Kosma K, Fostira F, Traeger-Synodinos J. Tilemis FN, et al. Mol Syndromol. 2023 Jun;14(3):225-230. doi: 10.1159/000527777. Epub 2023 Jan 13. Mol Syndromol. 2023. PMID: 37323200 Free PMC article.

198

A Genetics Study in the Foreskin of Boys with Hypospadias.

Inanc I, Avlan D, Eker D, Gurkan H. Inanc I, et al. Mol Syndromol. 2023 Jun;14(3):185-190. doi: 10.1159/000527405. Epub 2023 Jan 16. Mol Syndromol. 2023. PMID: 37323199 Free PMC article.

199

Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.

Bilal M, Haack TB, Buchert R, Peralta S, Uddin N, Ali RH, Liaqat K, Ahmad W. Bilal M, et al. Mol Syndromol. 2023 Jun;14(3):201-207. doi: 10.1159/000528651. Epub 2023 Feb 1. Mol Syndromol. 2023. PMID: 37323198 Free PMC article.

200

Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family.

Khan F, Arshad A, Ullah A, Steenackers E, Mortier G, Ahmad W, Arshad M, Khan S, Hayat A, Khan I, Khan MA, Van Hul W. Khan F, et al. Mol Syndromol. 2023 Jun;14(3):191-200. doi: 10.1159/000527043. Epub 2023 Feb 1. Mol Syndromol. 2023. PMID: 37323197 Free PMC article.

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