Výsledky vyhledávání - "Robyn Seaman"

Lack of an association between the angiotensin-converting enzyme insertion/deletion polymorphism and intracranial aneurysms in a Caucasian population in the United States

Autor: Dong H. Kim, Hariyadarshi Pannu, C. Robyn Seaman, Dianna M. Milewicz, Sanjay Shete, Grace Van Ginhoven

Publikováno v: Journal of Neurosurgery. 103:92-96

The identification of polymorphisms associated with an increase in the risk of developing disease is integral to the development of genetic biomarkers to identify individuals at risk. Based on reports indicating a role for angiotensin-converting enzy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aef16d8105888a94dfef01542b84e922
https://doi.org/10.3171/jns.2005.103.1.0092

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Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis

Autor: Laure Willen, Sylvia A. Frazier-Bowers, Gabriele Mues, Hitesh Kapadia, Rena N. D'Souza, Pascal Schneider, Aubry Tardivel, Robyn Seaman

Publikováno v: Eur J Hum Genetics
European Journal of Human Genetics, vol. 18, no. 1, pp. 19-25

Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606). We have performed an in vitro fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a21bcc7915207bf7eb1c97d86656e1

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Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa

Autor: Sara J. Bowne, Lori S. Sullivan, Richard A. Lewis, Susan H. Blanton, Stephen P. Daiger, Dianna K. Hughbanks-Wheaton, David G. Birch, John R. Heckenlively, C. Robyn Seaman

Publikováno v: Investigative ophthalmologyvisual science. 47(10)

Retinitis pigmentosa (RP) is the most common form of inherited retinopathy, with a prevalence of approximately 1 in 3500.1 From linkage mapping, positional cloning, and candidate gene screening, at least 35 unique loci have been identified for nonsyn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0115ae18d00a476ede4a82b390d5ac1a
https://pubmed.ncbi.nlm.nih.gov/17003455

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Retinal disease in mice lacking hypoxia-inducible transcription factor-2alpha

Autor: Robyn Seaman, Kan Ding, Joseph A. Garcia, David G. Birch, Marzia Scortegagna

Publikováno v: Investigative ophthalmologyvisual science. 46(3)

PURPOSE. To characterize ocular disease in HIF-2-null mice. METHODS. Histologic, electroretinographic (ERG), and molecular studies were performed on samples obtained from age- and gender-matched HIF-2-null (HIF-2-KO), HIF-2-heterozygous (HIF-2-HET),

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8deb0eab2ad496c404be93ace06faa89
https://pubmed.ncbi.nlm.nih.gov/15728559

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Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Autor: Robyn Seaman, Hatice Duzkale, Hope Northrup, Anisa I. Gire, Charles A. Garcia, Suma P. Shankar, Lori S. Sullivan, Susan H. Blanton, Stephen P. Daiger, Richard A. Lewis, Richard S. Ruiz, Sara J. Bowne, John R. Heckenlively, Dianna K. Hughbanks-Wheaton, Catherine J. Spellicy, Jingya Zhu, David G. Birch

Publikováno v: Investigative Opthalmology & Visual Science. 47:3052

PURPOSE. To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP. METHODS. Two hundred adRP families, drawn from a cohort of more than 400 potential families, were selecte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71aac60efdc81c7285f148d58204231c
https://doi.org/10.1167/iovs.05-1443

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