Zobrazeno 1 - 10
of 318
pro vyhledávání: '"David L, Rimoin"'
Autor:
Florence Lorget, Sean M. Bell, Mika Aoyagi-Scharber, Sianna Castillo, William R. Wilcox, Pavel Krejci, Melita Dvorak-Ewell, David L. Rimoin, Jeff Peng, Charles A. O’Neill, Stuart Bunting, Daniel J. Wendt, Sherry Bullens
Publikováno v:
Journal of Pharmacology and Experimental Therapeutics. 353:132-149
Achondroplasia (ACH), the most common form of human dwarfism, is caused by an activating autosomal dominant mutation in the fibroblast growth factor receptor-3 gene. Genetic overexpression of C-type natriuretic peptide (CNP), a positive regulator of
Publikováno v:
Journal of Neurosurgery: Pediatrics. 14:238-244
Object Achondroplasia may be associated with compression at the cervicomedullary junction. Determining which patients are at greatest risk for neurological complications of cervicomedullary compression can be difficult. In the current study the autho
Autor:
William R. Wilcox, Yuan Xue, Ralph S. Lachman, P Betty Mekikian, Jorge H. Martin, Angela Sun, David L. Rimoin
Publikováno v:
Molecular Genetics & Genomic Medicine
Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study
Publikováno v:
Journal of Neurology. 261:1957-1960
The presence of cardiovascular abnormalities in patients with spontaneous cerebrospinal fluid (CSF) leaks are not well-documented in the literature, as cardiovascular evaluation is not generally pursued if a patient does not exhibit additional clinic
Autor:
Ashley S. Kim, Kim-Hanh Le Quan Sang, Céline Huber, Sulin Wu, Sabine Sigaudy, Valérie Cormier-Daire, Arnold Munnich, Valérie Serre, Daniel H. Cohn, David L. Rimoin, Deborah Krakow, Geneviève Baujat, Anna Sarukhanov
Publikováno v:
The American Journal of Human Genetics. 93:926-931
Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and
Autor:
Michael Weber, David L. Rimoin, Gustavo Malinger, Ursula Nemec, Dieter Bettelheim, Ralph S. Lachman, Peter Brugger, Daniela Prayer, Stefan F. Nemec, Gregor Kasprian
Publikováno v:
Radiology. 267:570-580
To investigate human long bone development in vivo by analyzing distal femoral epimetaphyseal structures and bone morphometrics on magnetic resonance (MR) images of fetuses.An institutional review board approved this retrospective study, and informed
Publikováno v:
American Journal of Medical Genetics Part A. 161:1442-1446
Arterial complications are common in vascular type Ehlers-Danlos syndrome (EDS), accounting for 66% of first complications. Several cases in the literature have documented acute compartment syndrome (ACS) following vascular rupture in vascular type E
Autor:
Frank S Ong, Jerome I. Rotter, Kenneth E. Bernstein, Kandarp H. Shah, Rand B. Lee, Joshua L. Deignan, Wayne W. Grody, Terri Getzug, Hana Vakil, Kingshuk Das, Jane Z. Kuo, Yuan Xue, David L. Rimoin
Publikováno v:
Clinical Genetics. 84:55-59
Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of fever with peritonitis, pleuritis, synovitis and erysipeloid rash. The marenostrin-encoding
Autor:
Amy E. Merrill, Jonathan A. Bernstein, Alison M. Elliott, Moise Danielpour, David L. Rimoin, Grace J. Noh, Daniel H. Cohn, Anna Sarukhanov, Leslie J. Raffel, Ralph S. Lachman, Margarita H. Ivanova, Deborah Krakow, William R. Wilcox, Dorothy K. Grange
Publikováno v:
American journal of medical genetics. Part A, vol 170, iss 10
Bent Bone Dysplasia-FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics. Here we report on 11 individuals, including the original four patients plus seven new individ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::440431cc6b3f49dc1b6bd0fd914c2004
https://escholarship.org/uc/item/91w3v7fx
https://escholarship.org/uc/item/91w3v7fx
Autor:
David L. Rimoin, John M. Graham, Daniela Prayer, Ursula Nemec, Ernst Horcher, Peter Brugger, Stefan F. Nemec, Veronika Schöpf, Dieter Bettelheim, Michael Weber
Publikováno v:
European Journal of Radiology. 81:1937-1944
Objective Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagn