Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Diana Martin Garcia"'
Autor:
Paula R. Oliveira, Eileen M. Shore, Diana Martin-Garcia, Meiqi Xu, Marleny Alonso-Clavo, Frederick S. Kaplan, O. Will Towler, Osmany Alfonso-Hernández
Publikováno v:
American Journal of Medical Genetics Part A. 185:2572-2575
Little is known about FOP in Africa and few cases of nonclassic fibrodysplasia ossificans progressiva (FOP) have been reported on the continent. Here we report a three-year-old girl from Angola with a nonclassic FOP clinical presentation that is char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85162b172cf499d2fa0fd499b7dfbc07
https://doi.org/10.1002/ajmg.a.62253
https://doi.org/10.1002/ajmg.a.62253
Publikováno v:
American Journal of Medical Genetics. 46:284-287
The cause of the Rubinstein-Taybi syndrome (RTS), a multiple congenital anomalies/mental retardation (MCA/MR) syndrome first described in 1963, remains obscure. Recently, a deletion of chromosomal material at 16p13.3 has been found in some patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ada95f0ca24bfecc5adb92817fb3ed59
https://doi.org/10.1002/ajmg.1320460309
https://doi.org/10.1002/ajmg.1320460309
Autor:
Lisa M. Nakamura, Diana Martin-Garcia, John S. Waye, Miguel Rodriguez-Vazquez, Barry Eng, Angel Aquino-Perna, Małgorzata J.M. Nowaczyk, Donna McCaughey
Publikováno v:
American journal of medical genetics. Part A. (2)
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive MCA-MR disorder caused by mutations within the 7-dehydrocholesterol reductase gene, DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7-dehydrocholesterol (7DHC) l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ece3cba9dd2fea41aba62926604a052
https://pubmed.ncbi.nlm.nih.gov/14981719
https://pubmed.ncbi.nlm.nih.gov/14981719
Publikováno v:
American Journal of Medical Genetics. 102:387-388
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::107f4fafaa1bba3b70031cf6f71e282c
https://doi.org/10.1002/ajmg.1503
https://doi.org/10.1002/ajmg.1503