Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sarah Alliman"'
Autor:
Salmo Raskin, Charles E. Schwartz, Cindy Skinner, Vanessa Santos Sotomaior, Barbara R. DuPont, Reycel Rodriguez, Josiane Souza, Fabio R. Faucz, Aguinaldo Bonalumi Filho, Sarah Alliman, Frank O. Bartel
Publikováno v:
American Journal of Medical Genetics Part A. 155:1152-1156
Split hand/foot malformation (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. SHFM is a heterogeneous condition caused by abnormalities at one of mult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::865860db97ecccc5c5c3fe50f08470ce
https://doi.org/10.1002/ajmg.a.33942
https://doi.org/10.1002/ajmg.a.33942
Autor:
Ryan N. Traylor, Blake C. Ballif, Jill A. Rosenfeld, Richard E. Person, Trilochan Sahoo, Bassem A. Bejjani, Regina Thompson, Allen N. Lamb, Erawati V. Bawle, Lisa G. Shaffer, Angela L Duker, Sarah Alliman, Sangeetha Mahadevan
Publikováno v:
European Journal of Human Genetics. 18:1196-1201
Prader-Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia and feeding difficulties in infancy, followed by morbid obesity secondary to hyperphagia. It is caused by deficiency of paternally expressed transcript(s) wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3630f9cfa4febe67b1f0fcc9d271bdea
https://doi.org/10.1038/ejhg.2010.102
https://doi.org/10.1038/ejhg.2010.102
Autor:
Sarah Alliman, Beth S. Torchia, Justine Coppinger, Allen N. Lamb, Lisa G. Shaffer, Bassem A. Bejjani
Publikováno v:
Prenatal Diagnosis. 29:1156-1166
Objective To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing. Methods Microarray analysis using either whol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3433829a9c31270398d477d4fac46bef
https://doi.org/10.1002/pd.2371
https://doi.org/10.1002/pd.2371
Autor:
Steve Byerly, Stephanie Dallaire, Karl Edwin Adler, Catherine D. Kashork, Jessica Burleson, Mack J. Schermer, J. Britt Ravnan, Sarah Alliman, Blake C. Ballif, Ryan N. Traylor, Allen N. Lamb, Kyle Sundin, Roger A. Schultz, Justine Coppinger, Lisa G. Shaffer, Scott G. Sulpizio, S. Annie Morton, Cathryn Walker, Beth S. Torchia
Publikováno v:
Prenatal diagnosis. 31(8)
Objective To develop a novel, rapid prenatal assay for pregnancies with high likelihood of normal karyotypes, using BACs-on-Beads™ technology, a suspension array-based multiplex assay that employs Luminex® xMAP® technology, for the detection of g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a99c5ba48becbf55115a569fc1e643a7
https://pubmed.ncbi.nlm.nih.gov/21692086
https://pubmed.ncbi.nlm.nih.gov/21692086
Autor:
Alexander Asamoah, Heidi Thiese, J Marcadier, Beth S. Torchia, Sarah Dyack, S Shafer, Sarah Alliman, B Morash, Kathleen A. Leppig, Bassem A. Bejjani, Justine Coppinger, Robert T. Schultz, C Weaver, Allen N. Lamb, Pamela L. Brock
Publikováno v:
Clinical genetics. 78(2)
The identification of genomic imbalances in young patients can affect medical management by allowing early intervention for developmental delay and by identifying patients at risk for unexpected medical complications. Using a 105K-feature oligonucleo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40fd8621ce6bd502aedc272126517c5a
https://pubmed.ncbi.nlm.nih.gov/20345475
https://pubmed.ncbi.nlm.nih.gov/20345475
Autor:
Justine, Coppinger, Sarah, Alliman, Allen N, Lamb, Beth S, Torchia, Bassem A, Bejjani, Lisa G, Shaffer
Publikováno v:
Prenatal diagnosis. 29(12)
To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing.Microarray analysis using either whole-genome bacterial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2b90eb31ab924f68e33b897ba39065ba
https://pubmed.ncbi.nlm.nih.gov/19795450
https://pubmed.ncbi.nlm.nih.gov/19795450
Autor:
Patricia McCarthy Veach, Fengqin Lian, Dianne M. Bartels, Sarah Alliman, Bonnie S. LeRoy, Carolyn James
Publikováno v:
Journal of genetic counseling. 18(4)
Ethical issues are an inevitable part of genetic counseling practice. Prior research identified 16 domains of ethical and professional challenges encountered by practitioners in the United States. In order to further validate these domains, the prese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59943b5be0a15f38b76f022990f942d4
https://pubmed.ncbi.nlm.nih.gov/19452265
https://pubmed.ncbi.nlm.nih.gov/19452265
Autor:
Bassem A. Bejjani, Lisa G. Shaffer, Beth A. Torchia, Sarah Alliman, Justine Coppinger, Blake C. Ballif, Aaron Theisen
Publikováno v:
Obstetrical & Gynecological Survey. 63:696-697
Objective To compare the detection rate by microarray analysis for chromosome abnormalities in a prenatal population to that of a neonatal population referred for diagnostic testing. Methods Array comparative genomic hybridization (aCGH) analysis was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beef9c7cca206ad768c496075ca6125c
https://doi.org/10.1097/01.ogx.0000334735.13818.9a
https://doi.org/10.1097/01.ogx.0000334735.13818.9a