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Year Number of Results
1989 1
2000 2
2001 1
2003 2
2004 1
2005 1
2007 1
2008 2
2011 1
2015 1
2016 1
2017 2
2018 1
2019 1
2020 1
2021 1
2022 3
2024 0

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22 results

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Page 1
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better manage …
The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It …
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is diff …
Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory diffi …
Short rib-polydactyly syndrome.
Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R. Naki MM, et al. Arch Gynecol Obstet. 2005 Jul;272(2):173-5. doi: 10.1007/s00404-004-0696-9. Epub 2004 Dec 17. Arch Gynecol Obstet. 2005. PMID: 15605271
Ellis-van Creveld syndrome: Report of a case and recurrent variant.
Eftekhariyazdi M, Meshkani M, Moslem A, Hakimi P, Safari S, Khaligh A, Zare-Abdollahi D. Eftekhariyazdi M, et al. J Gene Med. 2020 Jun;22(6):e3175. doi: 10.1002/jgm.3175. Epub 2020 Mar 17. J Gene Med. 2020. PMID: 32072716
Because skeletal dysplasia belongs to a broad spectrum of syndromes and therefore exhibits considerable background locus and allelic heterogeneity, our report highlights the need for appropriate genetic counseling and supports the feasibility of WES to determine an accurate diagn …
Because skeletal dysplasia belongs to a broad spectrum of syndromes and therefore exhibits considerable background locus and allelic heterog …
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
Stembalska A, Rydzanicz M, Klaniewska M, Dudarewicz L, Pollak A, Biela M, Stawinski P, Ploski R, Smigiel R. Stembalska A, et al. Genes (Basel). 2022 Jul 27;13(8):1339. doi: 10.3390/genes13081339. Genes (Basel). 2022. PMID: 35893076 Free PMC article.
The high clinical and genetic diversity in SDs cause difficulties in prenatal diagnosis. To establish a correct prognosis and better management, it is very important to distinguish SDs with poor life-limiting prognosis or lethal SDs from other ones. ...Next to letha …
The high clinical and genetic diversity in SDs cause difficulties in prenatal diagnosis. To establish a correct prognosis and better …
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.
Čechová A, Baxová A, Zeman J, Lambert L, Honzík T, Leiská A, Čunát V, Tesařová M. Čechová A, et al. Prague Med Rep. 2019;120(4):124-130. doi: 10.14712/23362936.2019.17. Prague Med Rep. 2019. PMID: 31935347 Free article.
Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patients with ATD. Both severe and milder course of the disease were described in correlation with secondary involvement of lung's function. ...
Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patients with ATD. Both severe and milder course …
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.
Rozovsky K, Sosna J, Le Merrer M, Simanovsky N, Koplewitz BZ, Bar-Ziv J, Cormier-Daire V, Raas-Rothschild A. Rozovsky K, et al. Pediatr Radiol. 2011 Oct;41(10):1298-307. doi: 10.1007/s00247-011-2123-2. Epub 2011 Aug 5. Pediatr Radiol. 2011. PMID: 21818555
BACKGROUND: Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type (SEMD, SL-AC) is a rare autosomal recessive condition with a grave prognosis. OBJECTIVE: We aimed to describe the progression of symptoms from fetal age to adolescence in SMED, SL-AC pati …
BACKGROUND: Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type (SEMD, SL-AC) is a rare autosomal recessive condition …
Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.
Cheng C, Li X, Zhao S, Feng Q, Ren X, Chen X. Cheng C, et al. BMC Med Genomics. 2022 Mar 12;15(1):55. doi: 10.1186/s12920-022-01205-z. BMC Med Genomics. 2022. PMID: 35277174 Free PMC article.
We revealed novel compound variants of DYNC2H1 (NM_001377.3:c.11483T > G (p.Ile3828Arg) and c.2106 + 3A > T). Various statistical methods predicted that the variants would cause harmful effects on genes or gene products. ...CONCLUSION: This study identified a foetus …
We revealed novel compound variants of DYNC2H1 (NM_001377.3:c.11483T > G (p.Ile3828Arg) and c.2106 + 3A > T). Various statistical meth …
New case of Beemer-Langer syndrome.
Vujanic GM, Hunt NC. Vujanic GM, et al. Pediatr Dev Pathol. 2000 May-Jun;3(3):281-5. doi: 10.1007/s100249910037. Pediatr Dev Pathol. 2000. PMID: 10742417
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F. Buchh M, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006254. doi: 10.1101/mcs.a006254. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36442996 Free PMC article.
The investigators at the URDC performed a reanalysis of the ES raw data, which revealed a paternally inherited DYNC2H1 deep-intronic variant c.10606-14A > G predicted to create a strong cryptic acceptor splice site. Additionally, the RNA sequencing of fibroblasts demons …
The investigators at the URDC performed a reanalysis of the ES raw data, which revealed a paternally inherited DYNC2H1 deep-intronic variant …
22 results