Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Catharine J. Harris"'
Publikováno v:
Case Reports in Neurological Medicine, Vol 2016 (2016)
Walker-Warburg syndrome (WWS) is a rare autosomal recessive congenital muscular dystrophy with brain malformations and ocular abnormalities that falls under the wider phenotypic spectrum of the dystroglycanopathies. Mutations in a number of genes inc
Externí odkaz:
https://doaj.org/article/6c6075b5191345c59685219414d8cb62
Autor:
David W. Russell, Kevin J. McCarthy, Robert D. Steiner, David R. Eyre, Barbara K. Burton, Catharine J. Harris, Richard Dineen, Brad Angle, Michael D. Sussman, Katherine H. Kim, Ulrike Schwarze, Melanie Pepin, Dru F. Leistritz, Peter H. Byers, MaryAnn Weis, Shawna M. Pyott, Helena E. Christiansen
Publikováno v:
Human Molecular Genetics. 20:1595-1609
Recessive mutations in the cartilage-associated protein (CRTAP), leucine proline-enriched proteoglycan 1 (LEPRE1) and peptidyl prolyl cis–trans isomerase B (PPIB) genes result in phenotypes that range from lethal in the perinatal period to severe d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ca98bb394bc57dd814162f1602561b
https://doi.org/10.1093/hmg/ddr037
https://doi.org/10.1093/hmg/ddr037
Autor:
William B. Dobyns, Susan Winter, Ryan N. Traylor, Rena J. Vanzo, Julie S. Cohen, Martin G. Bialer, Eric D. Marsh, Blake C. Ballif, Alex R. Paciorkowski, Ali Fatemi, Yves Lacassie, Roger A. Schultz, Brenda E. Porter, Jacqueline M. Hoover, Elizabeth Berry-Kravis, Anu Venkat, Jill A. Rosenfeld, Catharine J. Harris, Allen N. Lamb, Lisa G. Shaffer, Marni J. Falk
Publikováno v:
Neurogenetics. 14(2)
MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6ab64b0c2ca45cedfc885da35d06a4
https://pubmed.ncbi.nlm.nih.gov/23389741
https://pubmed.ncbi.nlm.nih.gov/23389741
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
Publikováno v:
The American Journal of Medicine. 67:897-900
A nine year old boy with previously undiagnosed diabetes mellitus presented with severe ketoacidosis. His hyperglycemia (plasma glucose=786 mg/dl), acidosis (arterial pH=6.86), dehydration and coma responded well to therapy with intravenous fluids, b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8382bdebe04200b609a5c9df663e9f4b
https://doi.org/10.1016/0002-9343(79)90751-4
https://doi.org/10.1016/0002-9343(79)90751-4
Publikováno v:
Pediatric Research. 15:562-562
Preliminary studies previously reported by our laboratory have suggested that quantitative and qualitative measurements of methylumbelliferylguanidinobenzoate (MUGB) reactive proteases in mid-trimester amniotic fluid may provide an approach to the an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f27f86c01fc95b933ecdda7d57afb36
https://doi.org/10.1203/00006450-198104001-00746
https://doi.org/10.1203/00006450-198104001-00746