Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Anne L. Hutchinson"'
Autor:
Gideon M. Hirschfield, Grace Chao, Nancy B. Spinner, David A. Piccoli, Robert C. Bauer, Kathleen M. Loomes, Ian D. Krantz, Phuc Le Hoang, Laura D Leonard, Binita M. Kamath, Anne L. Hutchinson, Winita Hardikar, Vicky L. Ng, Paloma Jara, Pablo Lapunzina, Simon C. Ling, Jennifer Gerfen
Publikováno v:
Journal of Medical Genetics. 49:138-144
Background Alagille syndrome (ALGS) is a dominant, multisystem disorder caused by mutations in the Jagged1 (JAG1) ligand in 94% of patients, and in the NOTCH2 receptor in
Autor:
Laura D Leonard, David A. Piccoli, Gisele Podkameni, Binita M. Kamath, Anne L. Hutchinson, Nancy B. Spinner, Kathleen M. Loomes, Jennifer Gerfen, Ian D. Krantz, Kevin E.C. Meyers
Publikováno v:
American Journal of Medical Genetics Part A. :85-89
Alagille syndrome (ALGS) is an autosomal dominant condition, primarily caused by mutations in JAGGED1. ALGS is defined by cholestatic liver disease, cardiac disease and involvement of the face, skeleton, and eyes with variable expression of these fea
Autor:
Leslie Domenici Kulikowski, Anne L. Hutchinson, Vera Ayres Meloni, Maria Isabel Melaragno, Claudete Palmer Sodré, Decio Brunoni, Claudia Berlim de Mello, Denise Maria Christofolini, Roberta Santos Guilherme, Renata Pellegrino, Nancy B. Spinner, Laura K. Conlin
Publikováno v:
American Journal of Medical Genetics Part A. :2865-2869
We present a 20-year follow-up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromos
Autor:
Kathleen M. Loomes, Grace Chao, Phuc Le Hoang, Binita M. Kamath, Nancy B. Spinner, Anne L. Hutchinson, Ian D. Krantz, Jennifer Gerfen, Henry C. Lin
Alagille syndrome (ALGS, OMIM #118450) is an autosomal dominant disorder that affects multiple organ systems including the liver, heart, eyes, vertebrae, and face. ALGS is caused by mutations in one of two genes in the Notch Signaling Pathway, Jagged
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b02a36a81db0330010271f0215e882
https://europepmc.org/articles/PMC3331947/
https://europepmc.org/articles/PMC3331947/
Autor:
Nancy B. Spinner, Ingrid E. Scheffer, Xia Li, Hakon Hakonarson, Syed A. Hosain, Anne L. Hutchinson, Laura K. Conlin, Whitney Kramer, John C. Mulley, Samuel F. Berkovic, Harold Riethman
Publikováno v:
Journal of medical genetics. 48(1)
BACKGROUND: The ring chromosome 20 syndrome (R20) is a rare genetic disorder associated with a refractory electroclinical epilepsy syndrome and variably expressed comorbidities of intellectual disability and dysmorphism. METHODS: To understand the st
Autor:
Kosuke Izumi, Anne L. Hutchinson, Robert Daber, Aditi S. Parikh, Heather Mikesell, Grace Chao, Nancy B. Spinner
Publikováno v:
American journal of medical genetics. Part A. (12)