Výsledky vyhledávání - "Stickler Syndrome Type 2"

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2

Autor: Kevin M. Flanigan, Ashita Dave-Wala, Megan A. Waldrop, Julie M. Gastier-Foster, Nicolas J. Abreu, Daniel C. Koboldt

Publikováno v: American Journal of Medical Genetics Part A. 182:557-560

Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental disorder caused by pathogenic variants in the AMPD2 gene. We evaluated the son of a consanguineous couple who presented with profound hypotonia and global developme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8ecb9b7af8e36fc4505c20005549d1
https://doi.org/10.1002/ajmg.a.61452

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Marshall and Stickler syndrome in one Family

Autor: Gerinec A, Tomčíková D, Vladimir Krasnik, B Busanyova

Publikováno v: Czech and Slovak Ophthalmology. 74:106-109

The authors present the ocular finding in a patient sent to the Department of Paediatric Ophthalmology at the Children's University Hospital - Faculty of Medicine, Comenius University in Bratislava at the age of 3 months, with congenital glaucoma in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d8d1fb4a4627e8483156b4c6c6ee52e
https://doi.org/10.31348/2018/1/5-3-2018

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Exon-trapping assay improves clinical interpretation of COL11A1 and COL11A2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia

Autor: Grazia Nardella, Roberta Villa, Silvia Morlino, Stefano Castellana, Vito Guarnieri, Marco Castori, Carmela Fusco, Maria Francesca Bedeschi, Annalisa Schirizzi, Paola Grammatico, Antonio Novelli, Emanuele Agolini, Lucia Micale

Publikováno v: Genes, Vol 11, Iss 1513, p 1513 (2020)
Genes
Volume 11
Issue 12

Stickler syndrome (SS) is a hereditary connective tissue disorder affecting bones, eyes, and hearing. Type 2 SS and the SS variant otospondylomegaepiphyseal dysplasia (OSMED) are caused by deleterious variants in COL11A1 and COL11A2, respectively. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e38e9668602774635ff45c73780f3324
http://hdl.handle.net/11573/1473674

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Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations

Autor: Nadia Akawi, Lihadh Al-Gazali, Bassam R. Ali

Publikováno v: Clinical Genetics. 82:147-156

Akawi NA, Al-Gazali L, Ali BR. Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. Fibrochondrogenesis is documented to be a neonatally lethal rare recessively i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13c8233ebba65d00d244a83c5b00fa66
https://doi.org/10.1111/j.1399-0004.2011.01734.x

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A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

Autor: John R.W. Yates, John D. Scott, S. J. Payne, Allan J. Richards, Martin P. Snead, Rebecca Williams, F. Michael Pope

Publikováno v: Human Molecular Genetics. 5:1339-1343

Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective tissue dysplasias. There is clinical and locus heterogeneity with about two thirds of f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47688d9407bfbccad823a1ab416b5929
https://doi.org/10.1093/hmg/5.9.1339

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Stickler syndrome type 2 and linkage to the COL11A1 gene

Autor: John R.W. Yates, J. D. Scott, S. J. Payne, M. P. Snead, F. M. Pope, Rebecca Williams

Publikováno v: Annals of the New York Academy of Sciences. 785

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1a0265b039429b9121a92cb3030c386
https://pubmed.ncbi.nlm.nih.gov/8702171

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Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1

Autor: L. Al-Imara, David E. Barton, John D. Scott, Martin P. Snead, S. J. Payne, John R.W. Yates, F. M. Pope

Publikováno v: Eye (London, England). 8

Stickler syndrome is an autosomal dominantly inherited condition characterised by ocular, articular, facial, auditory and oral features. There is locus heterogeneity with about two thirds of families showing linkage to the gene encoding type II proco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f270496080ca4007942a5170d4b4e5e5
https://pubmed.ncbi.nlm.nih.gov/7867814

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