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Year Number of Results
2016 3
2017 2
2018 3
2019 1
2020 4
2021 1
2022 1
2023 4
2024 4
2025 3
2026 0

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23 results

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Page 1
A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment.
Goh S, Thiyagarajan L, Dudding-Byth T, Pinese M, Kirk EP. Goh S, et al. Genet Med. 2025 Jan;27(1):101227. doi: 10.1016/j.gim.2024.101227. Epub 2024 Jul 30. Genet Med. 2025. PMID: 39092588 Free article.
Several CNVs previously associated with nonstatistically significant penetrance estimates now exhibit statistically significant differences, contributing to emerging evidence for their pathogenicity (15q24 duplication [A-D breakpoints], 15q24.2q24.5 deletion …
Several CNVs previously associated with nonstatistically significant penetrance estimates now exhibit statistically significant differences, …
Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.
Previdi A, Jordan P, Egloff C, Coussement A, Ahmed-Eli S, Tudal L, Bienvenu T, Picone O, Dupont JM. Previdi A, et al. Clin Genet. 2024 Nov;106(5):537-544. doi: 10.1111/cge.14592. Epub 2024 Jul 16. Clin Genet. 2024. PMID: 39012202 Review.
15q24.1 microdeletion syndrome is a recently described condition often resulting from non-allelic homologous recombination (NAHR). ...Genome-wide aCGH assay allowed a diagnosis at 26 weeks of amenorrhea revealing a 1.6 Mb interstitial deletion on the long arm …
15q24.1 microdeletion syndrome is a recently described condition often resulting from non-allelic homologous recombination (NA …
Atopic dermatitis in 15q24 microdeletion syndrome: a social media study.
Deydier N, Salvado M, Planes M, Misery L, Abasq-Thomas C. Deydier N, et al. Eur J Dermatol. 2023 Apr 1;33(2):157-159. doi: 10.1684/ejd.2023.4455. Eur J Dermatol. 2023. PMID: 37431118
BACKGROUND: Chromosome 15q24 microdeletion is a rare genetic disorder, and the skin manifestations are poorly documented. ...CONCLUSION: We describe the largest cohort of patients with 15q24 microdeletion syndrome, revealing a high prevalence of atopic …
BACKGROUND: Chromosome 15q24 microdeletion is a rare genetic disorder, and the skin manifestations are poorly documented. ...C …
Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.
Liu Y, Mapow B. Liu Y, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1265. doi: 10.1002/mgg3.1265. Epub 2020 May 13. Mol Genet Genomic Med. 2020. PMID: 32400031 Free PMC article. Review.
BACKGROUND: 15q24 microdeletion is a relatively new syndrome caused by nonallelic homologous recombination (NAHR) between low-copy repeats (LCRs) in the 15q24 chromosome region. ...In addition, a thorough review of the literature on 15q24 microdelet …
BACKGROUND: 15q24 microdeletion is a relatively new syndrome caused by nonallelic homologous recombination (NAHR) between low- …
Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism.
Stefanyshyn V, Sheiko M, Pyantkovska N, Stetsyuk R, Pokhylko V, Fishchuk L, Rossokha Z. Stefanyshyn V, et al. J Mol Neurosci. 2024 Jan 5;74(1):1. doi: 10.1007/s12031-023-02183-2. J Mol Neurosci. 2024. PMID: 38180598
Depending on the degree of metabolic pathway damage, certain phenotypes of ASD are formed. A deletion of ~3.1 Mb of chromosome 15q24 was detected in the examined 2-year-old boy with a "mild phenotype" of autism without an obvious delay in mental development. ...
Depending on the degree of metabolic pathway damage, certain phenotypes of ASD are formed. A deletion of ~3.1 Mb of chromosome 15q …
Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion.
Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Pan CW, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2020 May;59(3):432-436. doi: 10.1016/j.tjog.2020.03.017. Taiwan J Obstet Gynecol. 2020. PMID: 32416893 Free article.
The woman requested repeat amniocentesis at 22 weeks of gestation, and aCGH analysis confirmed the result of arr 15q24.1q24.2 (72,963,970-75,535,330) 1.0 [GRCh37 (hg19)] and a 15q24 microdeletion encompassing the genes of STRA6, CYP11A1, SEMA7A, ARID3B, CYP …
The woman requested repeat amniocentesis at 22 weeks of gestation, and aCGH analysis confirmed the result of arr 15q24.1q24.2 (72,963 …
Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.
Liu Y, Zhang Y, Zarrei M, Dong R, Yang X, Zhao D, Scherer SW, Gai Z. Liu Y, et al. Am J Med Genet B Neuropsychiatr Genet. 2020 Jun;183(4):217-226. doi: 10.1002/ajmg.b.32778. Epub 2020 Jan 18. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 31953991
Chromosome 15q24 microdeletion syndrome is characterized by developmental delay, facial dysmorphism, hearing loss, hypotonia, recurrent infection, and other congenital malformations including microcephaly, scoliosis, joint laxity, digital anomalies, as well as somet …
Chromosome 15q24 microdeletion syndrome is characterized by developmental delay, facial dysmorphism, hearing loss, hypotonia, …
Neuroplastin in Neuropsychiatric Diseases.
Lin X, Liang Y, Herrera-Molina R, Montag D. Lin X, et al. Genes (Basel). 2021 Sep 26;12(10):1507. doi: 10.3390/genes12101507. Genes (Basel). 2021. PMID: 34680901 Free PMC article. Review.
15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A. Huynh MT, et al. Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14. Eur J Med Genet. 2018. PMID: 29549028
15q24 microdeletion and microduplication syndromes are genetic disorders caused by non-allelic homologous recombination between low-copy repeats (LCRs) in the 15q24 chromosome region. Individuals with 15q24 microdeletion and microduplication syn …
15q24 microdeletion and microduplication syndromes are genetic disorders caused by non-allelic homologous recombination betwee …
Report on Witteveen-Kolk syndrome caused by large fragment deletion in the 15q24.1 - q24.2 region in infants with early onset and literature review.
Tang H, Xu J, Ge L, Gao Q, Tan X, Qiao Q, Liu R, Kong Q, Li Q, Jiang X. Tang H, et al. Ital J Pediatr. 2025 May 7;51(1):134. doi: 10.1186/s13052-025-01971-3. Ital J Pediatr. 2025. PMID: 40336075 Free PMC article. Review.
BACKGROUND: WITKOS is a rare neurodevelopmental disorder caused by heterozygous loss-of-function variants in the 15q24.1 - q24.2 region, includeing switch-insensitive 3 transcription regulator family member A (SIN3 A). ...This report is the first case of WITKOS caused by a …
BACKGROUND: WITKOS is a rare neurodevelopmental disorder caused by heterozygous loss-of-function variants in the 15q24.1 - q24.2 regi …
23 results