Genomes and Genes
W R Wilcox
Affiliation: Cedars-Sinai Medical Center
- Pacman dysplasia: report of two affected sibsW R Wilcox
Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Cedars Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA
Am J Med Genet 77:272-6. 1998..The occurrence of this dysplasia in sibs of differing sex suggests autosomal recessive inheritance...
- Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasiaW R Wilcox
Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA
Am J Med Genet 78:274-81. 1998..The variable presence of CS and severity of the radiologic and histologic findings in the other substitutions may be due to other genetic, environmental, or stochastic factors...
- Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) geneE Delot
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Burns and Allen Cedars Sinai Research Institute, and Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA 90048, USA
Hum Mol Genet 8:123-8. 1999..The inclusions are also present in tendon tissue and can be reproduced in cultured tendon cells, suggesting that the pathophysiology of disease is similar in both cartilage and tendon...
- Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutationsS G Brodie
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA
Am J Med Genet 84:476-80. 1999..The presence of rER inclusion bodies cannot reliably discriminate between closely related skeletal dysplasias...
- "Baby rattle" pelvis dysplasiaV Cormier-Daire
Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Cedars-Sinai Burns and Allen Research Institute, Los Angeles, California, USA
Am J Med Genet 100:37-42. 2001....
- Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrumM D Briggs
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Burns and Allen Cedars Sinai Research Institute, Los Angeles, CA, USA
Am J Hum Genet 62:311-9. 1998..These data also reveal a role for the carboxyl-terminal domain in the structure and/or function of COMP...
- Thanatophoric dysplasia type I with syndactylyS G Brodie
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, UCLA School of Medicine, Los Angeles, California, USA
Am J Med Genet 80:260-2. 1998..We conclude that mutations in FGFR3 may also be associated with developmental abnormalities due to interference with programmed cell death...
- Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromesD Krakow
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA, USA
Eur J Hum Genet 8:645-8. 2000..The exclusion of the EVC region in ATD and SRP III families suggests that locus heterogeneity exists within the short-rib dysplasia (with and without polydactyly) group of disorders...
- Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3D N Schweitzer
Department of Pediatrics, Burns and Allen Research Institute, Cedars Sinai Medical Center, Los Angeles, California, USA
Am J Med Genet 98:75-91. 2001....
- A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimerG R Mortier
Ahmanson Pediatric Center, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
Hum Mol Genet 4:285-8. 1995..We confirm previous observations in three cases of hypochondrogenesis that glycine substitutions in the alpha 1(II) chain can result in a phenotype at the most severe end of the type II collagenopathy spectrum...
- A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 geneP L Tavormina
Department of Biological Chemistry, University of California, Irvine, CA, USA
Am J Hum Genet 64:722-31. 1999..We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations...
- Clinical spectrum of fibroblast growth factor receptor mutationsM R Passos-Bueno
Departamento Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
Hum Mutat 14:115-25. 1999..In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions...
- Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. OnlineH Kitoh
Department of Genetics, Institute for Developmental Research, Aichi Prefectural Colony Aichi, Japan
Hum Mutat 12:362-3. 1998..Interestingly, all cases with the Lys650Met mutation have the same unusual curvature of the tibia and/or fibula...
- Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina
Department of Biological Chemistry and Human Genome Research Center, University of California, Irvine 92717, USA
Nat Genet 9:321-8. 1995..None of these mutations were found in 50 controls showing that mutations affecting different functional domains of FGFR3 cause different forms of this lethal disorder...
- Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate productionA Rossi
Department of Biochemistry Alessandro Castellani, University of Pavia, Italy
Matrix Biol 17:361-9. 1998....
- Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasiasJ Hästbacka
Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge, USA
Am J Hum Genet 58:255-62. 1996..The severity of the phenotype appears to be correlated with the predicted effect of the mutations on the residual activity of the DTDST protein...
- Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter geneA Superti-Furga
Department of Pediatrics, University of Zurich, University Children s Hospital, Switzerland
Nat Genet 12:100-2. 1996
- Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry RegistryC M Eng
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
J Inherit Metab Dis 30:184-92. 2007....