Zobrazeno 1 - 6
of 6
pro vyhledávání: '"J A, Neidich"'
Autor:
D N, Schweitzer, J M, Graham, R S, Lachman, E W, Jabs, K, Okajima, K A, Przylepa, A, Shanske, K, Chen, J A, Neidich, W R, Wilcox
Publikováno v:
American journal of medical genetics. 98(1)
A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene. At birth, individuals with this disorder h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f08a4f5f4e554f0aabce7cf9c5267f9d
https://pubmed.ncbi.nlm.nih.gov/11426459
https://pubmed.ncbi.nlm.nih.gov/11426459
Autor:
V, Cormier-Daire, R, Savarirayan, R S, Lachman, J A, Neidich, K, Grace, D L, Rimoin, W R, Wilcox
Publikováno v:
American journal of medical genetics. 100(1)
We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long bones of the limbs, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bce9a20929bd49b67d5d57b0d3bccef7
https://pubmed.ncbi.nlm.nih.gov/11337746
https://pubmed.ncbi.nlm.nih.gov/11337746
Autor:
N H, Robin, J A, Neidich, L D, Bason, L A, Whitaker, D, McDonald-McGinn, J, Hunter, H M, Snyder, E H, Zackai
Publikováno v:
American journal of medical genetics. 61(1)
We report on a child with frontonasal malformation (FNM) and cloacal exstrophy, a combination of findings that have not been reported previously. In FNM and cloacal exstrophy, associated malformations are rare. FNM and cloacal exstrophy both represen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eaa6b9f85dcfa0670d1e97cd3243064f
https://pubmed.ncbi.nlm.nih.gov/8741924
https://pubmed.ncbi.nlm.nih.gov/8741924
Publikováno v:
Plastic and reconstructive surgery. 93(3)
In summary, Aicardi syndrome is defined by its tetrad of infantile spasms, agenesis of the corpus callosum, mental retardation, and chorioretinal lacunae. We report a case of Aicardi syndrome with associated cleft lip and palate. This is an infrequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5db7f9c1ba1355e5c4a6fa8491c3a164
https://pubmed.ncbi.nlm.nih.gov/8115518
https://pubmed.ncbi.nlm.nih.gov/8115518
Publikováno v:
Obstetrics and gynecology. 81(4)
To assess the acceptance of prenatal genetic diagnosis by patients younger than 35 years old who are therefore not yet at great risk for non-disjunction trisomies based on maternal age.The patients were counseled regarding the following: 1) the age-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::51c3d0d0c91ae3cae01517b002ce4456
https://pubmed.ncbi.nlm.nih.gov/8336885
https://pubmed.ncbi.nlm.nih.gov/8336885
Publikováno v:
Genetics in Medicine. 2:101
Interactive web-based genetic screening questionnaires in a primary care and obstetrics practice: A pilot study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::991ee045abb897991432f938ba004b50
https://doi.org/10.1097/00125817-200001000-00184
https://doi.org/10.1097/00125817-200001000-00184