Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sarah L Ruppert"'
Autor:
Alexander Pemov, Heejong Sung, Paula L Hyland, Jennifer L Sloan, Sarah L Ruppert, Andrea M Baldwin, Joseph F Boland, Sara E Bass, Hyo Jung Lee, Kristine M Jones, Xijun Zhang, NISC Comparative Sequencing Program, James C Mullikin, Brigitte C Widemann, Alexander F Wilson, Douglas R Stewart
Publikováno v:
PLoS Genetics, Vol 10, Iss 10, p e1004575 (2014)
Neurofibromatosis type 1 (NF1) is an autosomal dominant, monogenic disorder of dysregulated neurocutaneous tissue growth. Pleiotropy, variable expressivity and few NF1 genotype-phenotype correlates limit clinical prognostication in NF1. Phenotype com
Externí odkaz:
https://doaj.org/article/61d966c166c5493f8b7e3ef1f0ceb36e
Autor:
Michael B. Bober, Eric Legius, Rachel Hachen, Sarah L. Ruppert, Tomi L. Toler, Jennifer Williams, Ludwine Messiaen, Hilde Brems, Misti Williams, Merel van Maarle, Elizabeth Siqveland, June Ortenberg, Marie T. McDonald, Ignace Samson, Alicia G. Gomes, Leonard B. Kaban, Joseph J. Shen, Hua Li, Tom Callens, Serge Melançon, Margaret R. Wallace, Angela E. Lin, Robert A. Saul, Kathleen Claes, Heather B. Radtke, Douglas R. Stewart
Publikováno v:
Genetics in medicine, 16(6), 448-459. Lippincott Williams and Wilkins
“Jaffe–Campanacci syndrome” describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and cafe-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe–Campanac
Autor:
Sarah L. Ruppert, Anna L. Gloyn, Amy J. Swift, Ilana Blech, Clesson Turner, James C. Mullikin, David Ng, Francis S. Collins, Leslie G. Biesecker, Matthew G. Rees, Mario A. Morken, Jennifer E. Below, Nicola L. Beer, Mark I. McCarthy
Defining the genetic contribution of rare variants to common diseases is a major basic and clinical science challenge that could offer new insights into disease etiology and provide potential for directed gene- and pathway-based prevention and treatm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00dd9fe28756d4ed0f5935834f03659c
https://doi.org/10.1172/jci46425
https://doi.org/10.1172/jci46425
Autor:
Daniel Zlott, Karen Baker, Sarah L. Ruppert, Ann Berger, Eliezer Soto, Andrew J. Mannes, Douglas R. Stewart, Daniel Handel
Publikováno v:
The American journal of hospicepalliative care. 29(4)
Ketamine, an N-methyl-D-aspartate (NMDA) receptor antagonist, has been shown to be effective not only for its anesthetic properties but also for the analgesic and opiate-sparing effects. However, data on efficacy and safety of oral ketamine for the t
Autor:
Mie-Jef Descheemaeker, Ellen Denayer, Joseph Snow, Douglas R. Stewart, Audrey Thurm, Lisa Joseph, Ellen Plasschaert, Eric Legius, Jean-Pierre Fryns, Sarah L. Ruppert, Kathelijn Keymolen
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. (2)
Legius syndrome is a RAS-MAPK syndrome characterized by pigmentary findings similar to neurofibromatosis type 1 (NF1), but without tumor complications. Learning difficulties and behavioral problems have been reported to be associated with Legius synd