Zobrazeno 1 - 10
of 118
pro vyhledávání: '"Pearce WG"'
Autor:
Alan J. Mears, Sven Enerbäck, Michael Parlee, Tim Jordan, Tsutomu Kume, Stéphane Dubois, Wen Lin Kuo, Michael A. Walter, Benjamin F. Koop, Peter Carlsson, Jean Morissette, Robert Ritch, Douglas B. Gould, Vincent Raymond, Brigid L.M. Hogan, Jody L. Marshall, Pearce Wg, Shomi S. Bhattacharya, Farideh Mirzayans, Colin Collins
Publikováno v:
The American Journal of Human Genetics. 63(5):1316-1328
SummaryGenetic linkage, genome mismatch scanning, and analysis of patients with alterations of chromosome 6 have indicated that a major locus for development of the anterior segment of the eye, IRID1, is located at 6p25. Abnormalities of this locus l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23612b3747378482d3ce8ca010d3c015
Autor:
Marilyn B. Mets, Kym M. Boycott, Pearce Wg, Maria A. Musarella, Margaret J. Naylor, Fishman Ga, N. T. Bech-Hansen, Tracy A. Maybaum, Ben F. Koop
Publikováno v:
Nature Genetics. 19:264-267
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eb1bfed30bb86480266eed272eef585
https://doi.org/10.1038/947
https://doi.org/10.1038/947
Autor:
Rockefeller S.L. Young, David G. Birch, Maria A. Musarella, Richard G. Weleber, Yozo Miyake, Pearce Wg, Tracy A. Maybaum, Kym M. Boycott, N. Torben Bech-Hansen
Publikováno v:
The American Journal of Human Genetics. 62(4):865-875
SummaryX-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by disturbed or absent night vision; its clinical features may also include myopia, nystagmus, and impaired visual acuity. X-linked CSNB i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd06ed79e8c2e0ffe2dd8552449b49de
Publikováno v:
The American Journal of Human Genetics. 61(3):765-768
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d9e7b179f044eadbc538a16eaa56fa0
Publikováno v:
The American Journal of Human Genetics. 61:111-119
Genome-mismatch scanning (GMS) is a new method of linkage analysis that rapidly isolates regions of identity between two genomes. DNA molecules from regions of identity by descent from two relatives are isolated based on their ability to form extende
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18585123c20ade9f945a9057cbd5fdbf
https://doi.org/10.1086/513894
https://doi.org/10.1086/513894
Publikováno v:
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie. 35(4)
Background: Incomplete X-linked congenital stationary night blindness (CSNB) is a clinically variable condition that has been shown to be caused by mutations in the calcium-channel CACNA1F gene. We assessed the clinical variability in the expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11cd0cd435a0d11781a5caadd898de71
https://pubmed.ncbi.nlm.nih.gov/10900517
https://pubmed.ncbi.nlm.nih.gov/10900517
Publikováno v:
Ophthalmic genetics. 20(2)
Iridogoniodysgenesis is an autosomal dominant disorder in which there are abnormalities in the development of the iris stroma and trabecular meshwork tissues commonly resulting in glaucoma. The unoperated eye from an affected member of a family with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523633effa6c922b05b3d53b6e69a2e8
https://pubmed.ncbi.nlm.nih.gov/10420192
https://pubmed.ncbi.nlm.nih.gov/10420192
Publikováno v:
Human molecular genetics. 7(7)
Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocular structures. ARS patients present with iris hypoplasia, a pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10cfcf20eef887ef05f709601e9ba568
https://pubmed.ncbi.nlm.nih.gov/9618168
https://pubmed.ncbi.nlm.nih.gov/9618168
Publikováno v:
Ophthalmology. 103(11)
Purpose: To determine whether there is a locus for iridogoniodysgenesis (IGD)/familial iris hypoplasia in the region of the known Axenfeld-Rieger syndrome (ARS) locus at 4825 and to determine the ocular phenotype within the autosomal-dominant iris hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31e6e4fa5e3568765059dba656683c11
https://pubmed.ncbi.nlm.nih.gov/8942889
https://pubmed.ncbi.nlm.nih.gov/8942889
Autor:
N T Bech-Hansen, Pearce Wg
Publikováno v:
Ophthalmic genetics. 16(3)
The identification by fundus examination of those females carrying an X-linked retinitis pigmentosa (RP) gene can reportedly be as high as 87%. In genetic counselling sessions with young females with a 50% risk of being a carrier who wished to know t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d582be3c1198601e16e155142985f05
https://pubmed.ncbi.nlm.nih.gov/8556280
https://pubmed.ncbi.nlm.nih.gov/8556280