Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Aaron Theisen"'
Autor:
Ryan N Traylor, Damien L Bruno, Trent Burgess, Robert Wildin, Anne Spencer, Devika Ganesamoorthy, David J Amor, Matthew Hunter, Michael Caplan, Jill A Rosenfeld, Aaron Theisen, Beth S Torchia, Lisa G Shaffer, Blake C Ballif, Howard R Slater
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e12462 (2010)
BackgroundSubtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retarda
Externí odkaz:
https://doaj.org/article/903c9eedb11a4082bba6de997e486d40
Autor:
Aaron Theisen
Popular hiking series now available for one of the nation's most-visited national parks Compact, attractive, two-color format with a full-color photo insert 125 awe-inspiring hikes throughout the storied “Glacier Country” region Both Glacier Nati
Autor:
Rajesh R. Kaldate, Benjamin B. Roa, Shelly Cummings, Elisha Hughes, Sonia Chen, Jeffrey T. Trost, Aaron Theisen, Priscilla H. Fernandes, Jenny Peterson, Jennifer Saam
Publikováno v:
Cancer. 120:963-967
BACKGROUND This study sought to determine the prevalence of PALB2 mutations in a cohort referred for diagnostic testing for hereditary breast cancer. METHODS Sanger sequencing was used to analyze the entire coding region and flanking introns of PALB2
Autor:
Craig Romano, Aaron Theisen
•CLICK HERE to download sample hikes from Day Hiking Mount St. Helens• 80 day-hiking routes, summit routes, camping options, and more General details on visitors'centers and nature trails along each of the four major Monument access roads Popula
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay
Autor:
Jill A. Rosenfeld, Aaron Theisen, Lisa G. Shaffer, Beth S. Torchia, Michael Marble, Trilochan Sahoo, Raymond C. Tervo
Publikováno v:
American Journal of Medical Genetics Part A. 155:3110-3115
Fragile X E (FRAXE) is an X-linked form of intellectual disability characterized by mild to moderate cognitive impairment, speech delay, hyperactivity, and autistic behavior. The folate-sensitive fragile site FRAXE is located in Xq28 approximately 60
Autor:
Beth S. Torchia, J. Britt Ravnan, Aaron Theisen, Ian Casci, Bassem A. Bejjani, Nicholas J. Neill, Jill A. Rosenfeld, Roger A. Schultz, Trilochan Sahoo, Lisa G. Shaffer, Allen N. Lamb
Publikováno v:
Genetics in Medicine. 13:868-880
Purpose: Recently, molecular cytogenetic techniques have identified novel copy number variants in individuals with schizophrenia. However, no large-scale prospective studies have been performed to characterize the broader spectrum of phenotypes assoc
Autor:
Patricia I. Bader, Allen N. Lamb, Rhonda E. Schnur, Deepti Babu, Jill A. Rosenfeld, Lisa G. Shaffer, Michael L. Netzloff, John S. Bamforth, Beth S. Torchia, Sandra A. Farrell, Raymond C. Tervo, Kristen Hanson, Ryan N. Traylor, Tracy Stroud, Michael Marble, Roger A. Schultz, Dmitriy Niyazov, Shelley Williams, Arthur S. Aylsworth, Susan Sell, Lauren B. Coffey, Michelle Steinraths, J. Britt Ravnan, James J. Filiano, Urvashi Surti, Blake C. Ballif, Aaron Theisen, Marianne McGuire, Roger L. Ladda, Bassem A. Bejjani
Publikováno v:
Human Genetics. 131:145-156
Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies, microcephaly (MIC), a
Autor:
Aaron Theisen, Dennis Bartholomew, Kim L. McBride, Wendy E. Smith, Jean P. Pfotenhauer, Caroline Astbury, Pawel Stankiewicz, Lisa G. Shaffer, Julia A. Keene, William Gallentine, John A. Phillips, Blake C. Ballif, M. Katharine Rudd, Kate P. Shane, Pamela L. Brock, Bassem A. Bejjani, Robert E. Pyatt, Ryan N. Traylor, Valerie Banks, Jill A. Rosenfeld, Margaret P Adam, Julie M. Gastier-Foster, Devon Lamb Thrush, Gordon C. Gowans
Publikováno v:
The American Journal of Human Genetics. 86:454-461
Segmental duplications, which comprise approximately 5%-10% of the human genome, are known to mediate medically relevant deletions, duplications, and inversions through nonallelic homologous recombination (NAHR) and have been suggested to be hot spot
Autor:
Alexander Asamoah, Elizabeth A. Geiger, Bassem A. Bejjani, Berkley R. Powell, David D. Weaver, William I. Cohen, Elaine H. Zackai, Karen R Schmidt, Donna M. McDonald-McGinn, Heidi M. Feldman, Chad R. Haldeman-Englert, Justine Coppinger, Judy Phalin, Sulagna C. Saitta, Lisa G. Shaffer, Susan Lansky-Shafer, Blake C. Ballif, Aaron Theisen, Kate Shane, Joan F. Atkin, Robert Leland, Tamim H. Shaikh
Publikováno v:
Human Molecular Genetics. 18:1377-1383
Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), locate
Autor:
Aaron Theisen, Elaine H. Zackai, Donna M. McDonald-McGinn, Lisa G. Shaffer, Blake C. Ballif, Joseph H. Hersh, Bassem A. Bejjani
Publikováno v:
Clinical Genetics. 74:469-475
We report the identification of microdeletions of 16q11.2q12.2 by microarray-based comparative genomic hybridization (aCGH) in two individuals. The clinical features of these two individuals include hypotonia, gastroesophageal reflux, ear anomalies,