Zobrazeno 1 - 10
of 16
pro vyhledávání: '"John J Mulvihill"'
Autor:
Kari Casas, Shibo Li, Tarja K. Mononen, Henry J. Lin, John J. Mulvihill, Claudia N. Mikail, Susan Hassed, Rena E. Falk
Publikováno v:
American Journal of Medical Genetics. :331-339
We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at
Autor:
Albert Lin, David C. Kaslow, P.K. Raghuprasad, Beverly J. White, Turid Knutsen, Thomas B. Nutman, Alisa M. Goldstein, Margaret A. Tucker, Karl S. Theil, Laura Fontaine, John J. Mulvihill
Publikováno v:
American Journal of Medical Genetics. 76:229-237
We describe a five-generation kindred with familial eosinophilia (FE; MIM131400), characterized by the occurrence of sustained eosinophilia of unidentifiable cause in multiple relatives. The inheritance pattern is consistent with an autosomal dominan
Autor:
John J. Mulvihill
Publikováno v:
American Journal of Medical Genetics. 76:1-8
Autor:
Arleen D. Auerbach, John J. Mulvihill, Robert M. Hoffman, Sharon L. Wenger, Wendy S. Rubinstein
Publikováno v:
American Journal of Medical Genetics. 69:315-319
We have studied a 38-year-old man with a prior diagnosis of Holt-Oram syndrome, who presented with diabetes mellitus. He had recently taken prednisone for idiopathic interstitial lung disease and trimethoprim-sulfamethoxazole for sinusitis. Thrombocy
Autor:
Ngozi A. Nwokoro, John J. Mulvihill
Publikováno v:
American Journal of Medical Genetics. 68:315-321
Tint et al. [N Engl J Med 1994, 330:107-113], working with blood samples from the Smith-Lemli-Opitz syndrome (SLOS) patients of Irons and Elias showed the biochemical basis of this disorder to be a cholesterol biosynthesis defect [Irons et al., Lance
Publikováno v:
American Journal of Medical Genetics. :96-98
Autor:
Elizabeth McPherson, John J. Mulvihill, Angela E. Lin, Michele Clemens, Ngozi A. Nwokoro, H. Wolfgang Losken
Publikováno v:
American Journal of Medical Genetics. 45:519-524
Three new patients with the Baller-Gerold syndrome bring the number of reported cases to 20. In addition to craniosynostosis involving various sutures and preaxial reduction defects of variable severity, affected patients may have anal, urogenital, c
Autor:
John J. Mulvihill, Kåre Berg
Publikováno v:
American Journal of Medical Genetics. 79:79-81
For over three decades, the Permanent Committee of the International Congresses of Human Genetics has served the purpose of selecting a host and site for the quadrennial Congress, which is due next in 2001. The Committee has statutes and consists of
Publikováno v:
American Journal of Medical Genetics. 66:300-302
The Floating Harbor syndrome of short stature, very delayed bone age, expressive language delay, and characteristic facial changes has not been associated with cardiac anomalies, except for one patient with pulmonic stenosis. We report on a 10-year-o
Publikováno v:
American journal of medical genetics. 56(1)
Hereditary lymphedemas that are not associated with other malformations usually affect the lower limbs and are inherited in an autosomal dominant fashion. These non-syndromic hereditary lymphedemas are categorized by their age of onset, being either