Zobrazeno 1 - 5
of 5
pro vyhledávání: '"T O, Rosales"'
Autor:
J S, Fuqua, E S, Sher, P Y, Fechner, H, Ostrer, C, Oddeux, A J, Schafer, T O, Rosales, C J, Migeon, G D, Berkovitz
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 81:4479-4483
We have reported a kindred in which 46,XY gonadal dysgenesis was inherited in an X-linked (or autosomal dominant sex-limited) manner and in which affected subjects did not have a large duplication of the short arm of the X-chromosome. In the present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ef749538335ab402fd4632e43d5215
https://doi.org/10.1210/jcem.81.12.8954063
https://doi.org/10.1210/jcem.81.12.8954063
Publikováno v:
American journal of medical genetics. 77(3)
We report on a 6-year-old girl with short stature, facial anomalies, cutis aplasia, nasolacrimal duct obstruction, megalocorneae, kyphoscoliosis with multiple segmentation defects of the thoracic vertebrae, and 11 pairs of ribs. These anomalies toget
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4f1750d5f42e2722c8f66b5796360ac2
https://pubmed.ncbi.nlm.nih.gov/9605589
https://pubmed.ncbi.nlm.nih.gov/9605589
Autor:
Thomas G. Quattlebaum, Andy Peiffer, Gabriel M. Ronen, V. E. Anderson, I. Bjerre, Barbara R. DuPont, M. L. McHarg, Carole Charlier, David R. Gagnon, Mark Leppert, Nanda A. Singh, J. V. Murphy, Dora Stauffer, T. O. Rosales, Roberta Melis, Robin J. Leach
Publikováno v:
Nature genetics. 18(1)
Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microsc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b0a05d38b012da054938ac28ad35ce
https://pubmed.ncbi.nlm.nih.gov/9425886
https://pubmed.ncbi.nlm.nih.gov/9425886
Publikováno v:
Scopus-Elsevier
We studied a kindred of 69 affected individuals with the autosomal dominant epileptic syndrome of benign familial neonatal convulsions, linked to chromosome 20. Forty-two percent had their seizure onset on day 3, while remission took place in 68% dur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60586c2245521124167e9afdf3540816
https://pubmed.ncbi.nlm.nih.gov/8327138
https://pubmed.ncbi.nlm.nih.gov/8327138
Autor:
L M, Osborn, T O, Rosales
Publikováno v:
Clinical pediatrics. 20(12)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f1a970080691f811e6959b00b3bc89a0
https://pubmed.ncbi.nlm.nih.gov/6975694
https://pubmed.ncbi.nlm.nih.gov/6975694