Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Joseph H. Hersh"'
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 48 (2021)
Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems leading to a
Externí odkaz:
https://doaj.org/article/231d66fe2c064d35898141adc9445170
Autor:
Megan E Tucker, Rusty A. Gonser, Veronica Fiorito, Kyra Firestone, Fiorella Altruda, Deborah Chiabrando, Joseph H. Hersh, Alexander Asamoah, Emanuela Tolosano, Francesca Bertino, Kelly E. Jackson, Emanuele Bellacchio, Francesca Destefanis
Publikováno v:
Pain. 160:2766-2775
Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically and genetically heterogeneous disorders of the peripheral nervous system mainly characterized by impaired nociception and autonomic dysfunction. We previously identified
Autor:
Ingrid M. Wentzensen, R. Colombo, L. Baker, L. Immken, T. Barbaro-Dieber, Cameron Mroske, Julie S. Cohen, H. Nagakura, Ali Fatemi, J.F. Reynolds, E.S. Jordan, Zöe Powis, Christopher Cunniff, M. T. Cho, Jennifer Burton, Kirsty McWalter, I. Petrik, Rebecca Willaert, Kevin R. Payne, Joseph H. Hersh, Robert Huether, K.A. Aleck, Karen W. Gripp, T. Stamper, K.D. Farwell Hagman, M.J. Guillen Sacoto, K.L. David, Alessandro Serretti, Sha Tang
Publikováno v:
Clinical Genetics. 93:752-761
Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SET domain containing 5 gene (SETD5) phenotype of ID and dysmorphic features has been previously describe
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 48, p 48 (2021)
International Journal of Neonatal Screening
International Journal of Neonatal Screening
Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems leading to a
Autor:
Cynthia J. Curry, Margarita Raygada, Raoul C.M. Hennekam, Virginia Kimonis, John M. Graham, Alexa Kidd, David J. Amor, Helen Murphy, Annmarie Sommer, Salim Aftimos, Maureen Bocian, Amy Shealy, Michael T. Gabbett, Graeme C.M. Black, Susan Tomkins, Lakshmi Mehta, Bernhard Zabel, Michael Field, Joyce T. Turner, Margot I. Van Allen, Mark J. Stephan, Wendy E. Smith, Sally Ann Lynch, David Tilstra, Janice Zunich, Anne Chun Hui Tsai, Alan F. Rope, Pradeep Vasudevan, Kenneth N. Rosenbaum, Robert J. Hopkin, Julie C. Sapp, Moran Gal, Kyrieckos A. Aleck, Hülya Kayserili, Jennifer J. Johnston, Angela E. Lin, Julie McGaughran, Leslie G. Biesecker, G. Bradley Schaefer, Ruth Day, Joann Bodurtha, Ikuma Fujiwara, Heather J. Stalker, Dian Donnai, Melissa K. Maisenbacher, Peter Hedera, Maria Soller, Sahar Mansour, Nathaniel H. Robin, Joseph H. Hersh, Pamela Trapane, Gerald F. Cox, Bernhard Steiner
Publikováno v:
Human mutation, 31(10), 1142-1154. Wiley-Liss Inc.
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 17
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,
Publikováno v:
Research in Autism Spectrum Disorders. 2:170-175
Autism is a developmental disability characterized by severe, pervasive deficits in social interaction, communication and range of interests and activities. The neurobiologic basis of autism is well accepted, although the specific etiology is unknown
Autor:
Timothy Geleske, E. Stephen Edwards, Vinod K. Bhutani, Barbara Deloian, Celia I. Kaye, Michele A. Lloyd-Puryear, Jeffrey R. Botkin, Michael S. Watson, Joseph H. Hersh, Jennifer Lail
Publikováno v:
Pediatrics. 121:192-217
Advances in newborn screening technology, coupled with recent advances in the diagnosis and treatment of rare but serious congenital conditions that affect newborn infants, provide increased opportunities for positively affecting the lives of childre
Autor:
Salvatore Bertolone, Chester B. Whitley, Sandeep Soni, Joseph H. Hersh, Monica Hente, Alexandra Cheerva, Nancy Breslin
Publikováno v:
Pediatric Transplantation. 11:563-567
Combined enzyme replacement therapy (ERT) and stem cell transplant (SCT) were done for a two year old boy with severe Hurler syndrome(HS) with the aim to decrease transplant related complications. He tolerated both the procedures well without any maj
Publikováno v:
American Journal of Medical Genetics Part A. :248-255
Very little is known about the intellectual abilities and adaptive behavior of individuals who have Kabuki syndrome, beyond the fact that most individuals with this syndrome have mental retardation. To fill this gap, we have completed psychological a