Progress in Human Chondrodysplasias: Molecular Geneticsa

This publication has 35 references indexed in Scilit:

• Functions of fibroblast growth factors and their receptors
  Current Biology, 1995
• Stop codon FGFR3 mutations in thanatophoric dwarfism type 1
  Nature Genetics, 1995
• Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
  Nature Genetics, 1995
• Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen
  Human Mutation, 1995
• Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
  Nature, 1994
• Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia
  Human Molecular Genetics, 1994
• The type II collagenopathies: A spectrum of chondrodysplasias
  European Journal of Pediatrics, 1994
• Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus
  Human Molecular Genetics, 1994
• A Fourth Example Suggests That Premature Termination Codons in the COL2A1 Gene Are a Common Cause of the Stickler Syndrome: Analysis of the COL2A1 Gene by Denaturing Gradient Gel Electrophoresis
  Genomics, 1993
• Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1
  Nature Genetics, 1993