Výsledky vyhledávání - "M Gabriela, Wirth"

The PITX3 gene in posterior polar congenital cataract in Australia

Autor: Kathryn P, Burdon, James D, McKay, M Gabriela, Wirth, Isabelle M, Russell-Eggit, Samira, Bhatti, Jonathan B, Ruddle, David, Dimasi, David A, Mackey, Jamie E, Craig

Publikováno v: Molecular vision. 12

Congenital cataract is a significant cause of blindness worldwide. Many genes are known to cause the disorder. A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant congenital cataract.A gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cf97e70c0b2754038eb2349603d5fd7f
https://pubmed.ncbi.nlm.nih.gov/16636655

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Association of lentiginous mosaicism and congenital cataract in a girl

Autor: Sandra P, Toelle, Eugen, Boltshauser, M Gabriela, Wirth, Peter, Itin

Publikováno v: European journal of dermatology : EJD. 16(4)

Partial unilateral lentiginosis (PUL) is a rare pigmentary disorder characterized by multiple lentigines on otherwise normal skin affecting one side of the body. We report on a girl with an extensive form of bilateral lentiginosis with systematized s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bea82ded7058a8ffb26e5a24477641fd
https://pubmed.ncbi.nlm.nih.gov/16935790

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Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation

Publikováno v: Flinders University PURE
The American Journal of Human Genetics

Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a0657da75ac678852a53d90c8537f2
https://www.bib.irb.hr/135231

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Hereditary Hyperferritinemia-Cataract Syndrome

Autor: Glenys Grant, Jamie E Craig, Celia S. Chen, David A. Mackey, M Toohey, Lionel Kowal, Sarah Roberts, Janet McLeod, James E. Elder, M. Gabriela Wirth, Mark A. Kirkland, Helen Savoia, J. Benedict Clark

Publikováno v: Archives of Ophthalmology. 121:1753

Objectives: To provide a comprehensive description of the clinical presentations, cataract morphology, and molecular basis of hereditary hyperferritinemia-cataract syndrome (HHCS) in 4 Australian pedigrees and to estimate its prevalence. Methods: All

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e0328d6b80f3b072586d6fe76d60135
https://doi.org/10.1001/archopht.121.12.1753

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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

Autor: Rahat Perveen, Martin Carette, Robyn V. Jamieson, Graeme C.M. Black, Di Donnai, Francis L. Munier, Bronwyn Kerr, Veronica van Heyningen, Jill Yardley, M. Gabriela Wirth, Elise Heon

Publikováno v: Scopus-Elsevier
Human Molecular Genetics, vol. 11, no. 1, pp. 33-42

Human congenital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenotypic heterogeneity. We identified a family where ocular developmental abnormalities (cataract, anterior segment dysgenesis and microphthalmi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::309bc36e0f7934dabdb6d4572c9aa742
http://www.scopus.com/inward/record.url?eid=2-s2.0-0036156544&partnerID=MN8TOARS

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