Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Peter Raffalli"'
Autor:
Peter Raffalli
Publikováno v:
Encyclopedia of Child and Adolescent Health ISBN: 9780128188736
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d85ae8f2f4ffac996484c6b9046541d2
https://doi.org/10.1016/b978-0-12-818872-9.00173-4
https://doi.org/10.1016/b978-0-12-818872-9.00173-4
Autor:
Alison Schonwald, Beth Rosen Sheidley, Janet S. Soul, David K. Urion, Ann M. Bergin, Omar Khwaja, Wen Han Tan, Annapurna Poduri, Eugenia Ho, Kiran Maski, Tobias Loddenkemper, Peter Raffalli, Caitlin K. Rollins, Sharon E. Smith, Jennifer Markowitz, Michael Robbins, Laura Weissman, Mira Irons, Christina Jacobsen, Yiping Shen, Jennifer Avallone, Gerard T. Berry, Alcy Torres, Peter T. Tsai, Yaman Z. Eksioglu, Fuki M. Hisama, Philip James, Masanori Takeoka, Mustafa Sahin, J. Thomas Megerian, Rebecca Pinsky, Bai-Lin Wu, Heather E. Olson, Sanjeev V. Kothare, David J. Harris, David T. Miller, Edward G. Neilan, Frank H. Duffy, Robert Wolff, Joan M. Stoler, Eugene Roe, Jonathan O. Lipton, Dean Sarco, Amy E. Roberts
Publikováno v:
Annals of Neurology. 75:943-958
Objective To evaluate the role of copy number abnormalities detectable by chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care center.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60371a4c72c20a6976d285fd7abd887c
https://doi.org/10.1002/ana.24178
https://doi.org/10.1002/ana.24178
Autor:
Christopher Cunniff, David T. Miller, Trilochan Sahoo, Jessica M. Salamone, Maria Blazo, James R. Lupski, Robert P. Erickson, Daniel A. Peiffer, Vickie L. Hannig, Arthur L. Beaudet, Sau Wai Cheung, Chin-To Fong, Debra Freedenberg, David J. Harris, Ankita Patel, Gary D. Clark, Sung Hae L. Kang, Sarika U. Peters, Nicola Brunetti-Pierri, Jonathan S. Berg, Lisa Albers Prock, Peter Raffalli, Kevin L. Gunderson
Publikováno v:
Genetics in Medicine. 9:427-441
Purpose: Williams-Beuren syndrome is among the most well-characterized microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11.23 mediated by nonallelic homologous recombination between low copy repeats flanking this critical regi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa6611609e20f11a1bcc7efb04097271
https://doi.org/10.1097/gim.0b013e3180986192
https://doi.org/10.1097/gim.0b013e3180986192
Autor:
Scott L. Pomeroy, Peter Raffalli
Publikováno v:
Annals of Neurology. 79:167-168
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a39076df05db65082d07b07b69149da
https://doi.org/10.1002/ana.24579
https://doi.org/10.1002/ana.24579
Publikováno v:
Journal of developmental and behavioral pediatrics : JDBP. 34(8)
CASE: Aiden, a 13-year-old boy in the sixth grade who is relatively new to your practice, is seen for follow-up after his routine physical last month when you noted concerns for possible attention-deficit hyperactivity disorder (ADHD) and gave the fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1059832141cc78876299cd6373bd2e
https://pubmed.ncbi.nlm.nih.gov/24131886
https://pubmed.ncbi.nlm.nih.gov/24131886
Autor:
Pawel Stankiewicz, Va Lip, Gerald F. Cox, Alcy Torres, Bai-Lin Wu, Xiaoming Sheng, Laura Weissman, Peter Raffalli, Ankita Patel, Yiping Shen, Yu An, Sami S. Amr, Weimin Bi
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (8)
20p13 telomeric/subtelomeric deletions are clinically significant but are currently under-investigated. So far only five molecularly delineated cases have been reported in literature and no candidate genes have been sufficiently implicated. Here, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d551ceda2be6c03d10aab7a4f368b43c
https://pubmed.ncbi.nlm.nih.gov/24019301
https://pubmed.ncbi.nlm.nih.gov/24019301
Autor:
Yiping, Shen, Kira A, Dies, Ingrid A, Holm, Carolyn, Bridgemohan, Magdi M, Sobeih, Elizabeth B, Caronna, Karen J, Miller, Jean A, Frazier, Iris, Silverstein, Jonathan, Picker, Laura, Weissman, Peter, Raffalli, Shafali, Jeste, Laurie A, Demmer, Heather K, Peters, Stephanie J, Brewster, Sara J, Kowalczyk, Beth, Rosen-Sheidley, Caroline, McGowan, Andrew W, Duda, Sharyn A, Lincoln, Kathryn R, Lowe, Alison, Schonwald, Michael, Robbins, Fuki, Hisama, Robert, Wolff, Ronald, Becker, Ramzi, Nasir, David K, Urion, Jeff M, Milunsky, Leonard, Rappaport, James F, Gusella, Christopher A, Walsh, Bai-Lin, Wu, David T, Miller, Ludwig, von Hahn
Publikováno v:
Pediatrics. 125(4)
BACKGROUND: Multiple lines of evidence indicate a strong genetic contribution to autism spectrum disorders (ASDs). Current guidelines for clinical genetic testing recommend a G-banded karyotype to detect chromosomal abnormalities and fragile X DNA te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cad6e0eb3b8ab6303ba6e17b66cb3489
https://pubmed.ncbi.nlm.nih.gov/20231187
https://pubmed.ncbi.nlm.nih.gov/20231187
Autor:
Gerald F. Cox, Ann Reinhard, Sanjeev V. Kothare, Annapurna Poduri, Peter Raffalli, Irina Anselm, Sharon E. Smith, Masanori Takeoka, David T. Miller, Joan M. Stoler, Robert Wolff, Kiran Prasad, Rachel J. Hundley, Lauren A. Weiss, Mark J. Daly, Bai-Lin Wu, David J. Harris, James F. Gusella, Yiping Shen, Omar Khwaja, Christina Luedke, Carolyn Bridgemohan, Ramzi Nasir, Joseph V. Thakuria, Hope Dickinson, Wen-Hann Tan, Joshua M. Korn, Jennifer K. Gentile, Vijay Hegde, Magdi M. Sobeih, Roman Yusupov, Janet S. Soul
Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities.DNA samples from 1445 unrelated pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ffceadb9e2c97f97e327d232d6ee0e
https://europepmc.org/articles/PMC4090085/
https://europepmc.org/articles/PMC4090085/