Zobrazeno 1 - 7
of 7
pro vyhledávání: '"A W, Grix"'
Autor:
Aline Petrin, James M. Harris, Fowzan S. Alkuraya, Antonio Richieri-Costa, Robert P. Erickson, Resy Cavallesco, Irfan Saadi, Philippe Leboulch, Ursela Siddiqui, Cynthia C. Morton, Hanne Hove, Stephen S. Gisselbrecht, Richard L. Maas, Wolfram Goessling, Jeffrey C. Murray, Annick Turbe-Doan, Thomas W. Glover, Arthur W. Grix
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b05b2aeea41dc2f3314a18db9a1653f5
Autor:
Jose F. Salazar, Arthur W. Grix, James K. Hartsfield, Boris G. Kousseff, Scott M. W. Haufe, Bryan D. Hall
Publikováno v:
American Journal of Medical Genetics. 45:552-557
We report on 7 patients (6 M, 1 F) with Coffin-Lowry syndrome who have a sensorineural hearing deficit in addition to developmental delay and characteristic facial changes. One of the patients also had a history of premature exfoliation of primary te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a839cc4376684006102006e5eb6fa2
https://doi.org/10.1002/ajmg.1320450505
https://doi.org/10.1002/ajmg.1320450505
Autor:
John C. Carey, Bruce A. Buehler, John M. Graham, Mahin Golabi, Cynthia J. Curry, Arthur W. Grix
Publikováno v:
American journal of medical genetics. Part A. (1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b25a9be0da0412241d52260d6ac67d5c
https://pubmed.ncbi.nlm.nih.gov/14556241
https://pubmed.ncbi.nlm.nih.gov/14556241
Autor:
Joseph Wagstaff, Athel Hockey, Paul J. Benke, De-Ann M. Pillers, Mildred L. Kistenmacher, Seth J. Orlow, Arthur W. Grix, Rhonda E. Schnur, Graham E. Quinn, Roberta S. Pagon, Matthew S. Edwards, Hope H. Punnett, Maria A. Musarella, Mei Gao, Kenneth K. Kidd, Kamer Tezcan, Margaret Keller, Alex V. Levin, Jack H. Jung, Richard G. Weleber, Rod W. Nowakowski, Richard A. Lewis, Penelope A. Wick
X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by decreased ocular pigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity. Affected males usually demonstrate melanin macroglobules on skin biopsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6077cec5275bd5903184dd097b91624f
https://europepmc.org/articles/PMC1377018/
https://europepmc.org/articles/PMC1377018/
Autor:
R E, Schnur, P A, Wick, C, Bailey, T, Rebbeck, R G, Weleber, J, Wagstaff, A W, Grix, R A, Pagon, A, Hockey, M J, Edwards
Publikováno v:
American journal of human genetics. 55(3)
One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their clinical phenotypes and their linkage genotypes. In a four-generation Australian family, two affected males and an obligator
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::708d5427433040a0cbdd9f0bce0c09b9
https://pubmed.ncbi.nlm.nih.gov/7915878
https://pubmed.ncbi.nlm.nih.gov/7915878
Autor:
Edward J. Lammer, Diane T. Chen, Richard M. Hoar, Narsingh D. Agnish, Paul J. Benke, John T. Braun, Cynthia J. Curry, Paul M. Fernhoff, Art W. Grix, Ira T. Lott, James M. Richard, Shyan C. Sun
Publikováno v:
New England Journal of Medicine. 313:837-841
Retinoic acid, an analogue of vitamin A, is known to be teratogenic in laboratory animals and has recently been implicated in a few clinical case reports. To study the human teratogenicity of this agent, we investigated 154 human pregnancies with fet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5344af911827d76a338a1c38f1f76e07
https://doi.org/10.1056/nejm198510033131401
https://doi.org/10.1056/nejm198510033131401
Publikováno v:
American Journal of Roentgenology. 153:827-828
Harlequin ichthyosis is a rare congenital disorder with high perinatal lethality. The skin is thickened and fissured, often dividing into polygonal plaques. This abnormality has been diagnosed by fetoscopy and fetal skin biopsy in two cases with a fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::848b923214bd92ec94f914c5a5c2a990
https://doi.org/10.2214/ajr.153.4.827
https://doi.org/10.2214/ajr.153.4.827