Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Magdi M. Sobeih"'
Autor:
Michael E. Coulter, Magdi M. Sobeih, Amy E. Roberts, David J. Harris, Mira Irons, Pamela Hawley, David T. Miller, Jonathan Picker
Publikováno v:
Genetics in Medicine. 13:770-776
Chromosomal microarray (CMA) testing provides the highest diagnostic yield for clinical testing of patients with developmental delay (DD), intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). Despite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ba7ceeae7d2e6891a1517f2818ca30
https://doi.org/10.1097/gim.0b013e31821dd54a
https://doi.org/10.1097/gim.0b013e31821dd54a
Autor:
Gabriel Corfas, Magdi M. Sobeih
Publikováno v:
International Journal of Developmental Neuroscience. 20:349-357
Neuronal migration is an essential process in the development of the central nervous system (CNS). The movement of neuronal precursors from their birthplaces to their ultimate position in the adult brain is regulated by extrinsic and intrinsic signal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65866b3cf5c64c4422a137f90dc3f554
https://doi.org/10.1016/s0736-5748(02)00040-0
https://doi.org/10.1016/s0736-5748(02)00040-0
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:
Jay G. Berry, Gerald V. Raymond, Florian Eichler, Magdi M. Sobeih, David A. Wenger, Maria L. Escolar, Asif Mahmood
Publikováno v:
Journal of child neurology. 25(5)
Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. We reviewed the literature and identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a109f9a0af8598c62d65fe51df920979
https://pubmed.ncbi.nlm.nih.gov/20038527
https://pubmed.ncbi.nlm.nih.gov/20038527
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/
Autor:
Gabriel Corfas, François Guillemot, Jing Zhao, Joseph G. Gleeson, Julian Ik-Tsen Heng, Volkan Coskun, Magdi M. Sobeih, Xiangbing Wu, Laurent Nguyen, Weihong Ge, Kevin J. Kim, Fei He, Hao Wu, Keri Martinowich, Michael E. Greenberg, Jifang Tao, Yi E. Sun, Bruno Blanchi, Diogo S. Castro
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 103(5)
After cell birth, almost all neurons in the mammalian central nervous system migrate. It is unclear whether and how cell migration is coupled with neurogenesis. Here we report that proneural basic helix-loop-helix (bHLH) transcription factors not onl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1110d0066f308f765dd5cfe11ef308
https://pubmed.ncbi.nlm.nih.gov/16432194
https://pubmed.ncbi.nlm.nih.gov/16432194
Autor:
Mahmood A; Department of Internal Medicine, University of Texas Medical Branch, Galveston, Texas, USA., Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS
Publikováno v:
Journal of child neurology [J Child Neurol] 2010 May; Vol. 25 (5), pp. 572-80. Date of Electronic Publication: 2009 Dec 28.