W R Wilcox

Summary

Affiliation: Cedars-Sinai Medical Center
Country: USA

Publications

  1. ncbi request reprint Pacman dysplasia: report of two affected sibs
    W 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
  2. ncbi request reprint Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia
    W 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
  3. ncbi request reprint Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
    E 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
  4. ncbi request reprint Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations
    S 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
  5. ncbi request reprint "Baby rattle" pelvis dysplasia
    V 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
  6. pmc Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum
    M 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
  7. ncbi request reprint Thanatophoric dysplasia type I with syndactyly
    S 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
  8. ncbi request reprint Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes
    D Krakow
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA, USA
    Eur J Hum Genet 8:645-8. 2000
  9. ncbi request reprint Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3
    D 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
  10. ncbi request reprint 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 trimer
    G R Mortier
    Ahmanson Pediatric Center, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Hum Mol Genet 4:285-8. 1995

Collaborators

Detail Information

Publications18

  1. ncbi request reprint Pacman dysplasia: report of two affected sibs
    W 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...
  2. ncbi request reprint Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia
    W 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...
  3. ncbi request reprint Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
    E 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...
  4. ncbi request reprint Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations
    S 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...
  5. ncbi request reprint "Baby rattle" pelvis dysplasia
    V 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
    ....
  6. pmc Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum
    M 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...
  7. ncbi request reprint Thanatophoric dysplasia type I with syndactyly
    S 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...
  8. ncbi request reprint Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes
    D 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...
  9. ncbi request reprint Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3
    D 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
    ....
  10. ncbi request reprint 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 trimer
    G 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...
  11. pmc A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
    P L Tavormina
    Department of Biological Chemistry, University of California, Irvine, CA, USA
    Am J Hum Genet 64:722-31. 1999
    ....
  12. ncbi request reprint Clinical spectrum of fibroblast growth factor receptor mutations
    M 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...
  13. ncbi request reprint Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online
    H 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...
  14. ncbi request reprint Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
    P 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...
  15. ncbi request reprint 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 production
    A Rossi
    Department of Biochemistry Alessandro Castellani, University of Pavia, Italy
    Matrix Biol 17:361-9. 1998
    ....
  16. pmc Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias
    J 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...
  17. ncbi request reprint Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
    A Superti-Furga
    Department of Pediatrics, University of Zurich, University Children s Hospital, Switzerland
    Nat Genet 12:100-2. 1996
  18. ncbi request reprint Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
    C 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
    ....