Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Pamela L. Brock"'
Publikováno v:
Endocrine Oncology, Vol 4, Iss 1, Pp 1-7 (2024)
This commentary explores the complexities faced by clinicians when encountering a secondary SDHA pathogenic variant (PV) in patients without a personal or family history of SDHA-related tumors. The increasing use of germline multi-gene panel testing
Externí odkaz:
https://doaj.org/article/4710be4a7e7e4005a83330d74c2ee2a1
Autor:
Daniel Forrest, Comiskey, Huiling, He, Sandya, Liyanarachchi, Mehek S, Sheikh, Luke K, Genutis, Isabella V, Hendrickson, Lianbo, Yu, Pamela L, Brock, Albert, de la Chapelle
Publikováno v:
Journal of medical genetics. 57(8)
Papillary thyroid carcinoma (PTC) demonstrates high heritability and a low somatic mutation burden relative to other cancers. Therefore, the genetic risk predisposing to PTC is likely due to a combination of low penetrance variants. A recent genome-w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d22f8b222cb8df0616bd9fede74129a
https://pubmed.ncbi.nlm.nih.gov/32051256
https://pubmed.ncbi.nlm.nih.gov/32051256
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed55a5c6c89e0d96eae5e318acc4052
https://doi.org/10.1016/j.ajhg.2010.01.038
https://doi.org/10.1016/j.ajhg.2010.01.038
Autor:
Camilo Toro, Pamela L. Brock, Adeline Vanderver, Sarah Auerbach, Michelle Nehrebecky, Wadih M. Zein, Sumit Parikh, Rena A. Godfrey, Davide Tonduti, Marc C. Patterson, Kelly E. Jackson, Johanna L. Schmidt, Gordon C. Gowans, William A. Gahl
Publikováno v:
Molecular genetics and metabolism. 107(1-2)
Objective : To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin. Design : Case reports. Setting : National Institutes of Health in the Undiagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e68b0d98d2be1778cbf770871a5485f3
https://pubmed.ncbi.nlm.nih.gov/22749184
https://pubmed.ncbi.nlm.nih.gov/22749184
Autor:
Pamela L. Brock, Gordon C. Gowans, E J Taylor, Neil R. Friedman, Lara Cresswell, Pradeep C. Vasudevan, Elaine H. Zackai, M F Feingold, Jill A. Rosenfeld, Catharine J. Harris, Lina Basel-Vanagaite, Meena Balasubramanian, Aaron Theisen, Kath Smith, Rocio Moran, Michael J. Parker, Holly Feret
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (5), pp.290. ⟨10.1136/jmg.2010.084491⟩
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (5), pp.290. ⟨10.1136/jmg.2010.084491⟩
International audience; Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ebbc8603c87b4ae9cc02425f36e8193
https://hal.archives-ouvertes.fr/hal-00610426
https://hal.archives-ouvertes.fr/hal-00610426
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:
Livija Medne, Lisa G. Shaffer, Pamela L. Brock, Alexander Asamoah, Peggy S. Eis, Bassem A. Bejjani, Suneeta Madan-Khetarpal, Sara A Hornor, Robert L. Conway, Elizabeth Jenkins, Kelly E. Jackson, Elaine H. Zackai, Urvashi Surti, Joel Geoghegan, Gordon C. Gowans, John M. Graham, Blake C. Ballif, Rebecca R. Selzer, Tamim H. Shaikh
Publikováno v:
Nature genetics. 39(9)
We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2386041121129468fecdaf212b7d897b
https://pubmed.ncbi.nlm.nih.gov/17704777
https://pubmed.ncbi.nlm.nih.gov/17704777
Autor:
Jon B. Klein, Angela K. Snow, Pamela L. Brock, Gordon C. Gowans, Ted Kalbfleisch, Deborah W. Neklason
Publikováno v:
F1000Research
Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene. Those deletions were measured using multiplex ligation-dependent probe amplification. Here, we present and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3bdda0ff665eb16e206fd44eb8be83c
https://doi.org/10.12688/f1000research.6636.1
https://doi.org/10.12688/f1000research.6636.1