Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone Growth

1996 • 1,062 citations

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1994 • 903 citations

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3

1996 • 867 citations

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

1995 • 602 citations

Developmental Localization of the Splicing Alternatives of Fibroblast Growth Factor Receptor-2 (FGFR2)

1993 • 551 citations

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

1996 • 500 citations

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1995 • 464 citations

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

1995 • 389 citations

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

1997 • 372 citations

FGFR activation in skeletal disorders: Too much of a good thing

1997 • 319 citations

Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.

1996 • 302 citations

FGF signaling in skeletal development

1998 • 214 citations

Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome

1996 • 181 citations

Fibroblast growth factor receptors: lessons from the genes

1998 • 175 citations

A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene

1999 • 160 citations

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

1998 • 154 citations

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

1997 • 140 citations

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

1999 • 117 citations

Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3G380R transgenic mice

2000 • 111 citations

Acanthosis nigricans: A cutaneous marker of tissue resistance to insulin

1989 • 108 citations

Long-term survival in typical thanatophoric dysplasia type 1

1997 • 103 citations

Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.

1998 • 74 citations

CUTIS GYRATUM, ACANTHOSIS NIGRICANS AND OTHER CONGENITAL ANOMALIES A NEW SYNDROME

1969 • 65 citations

Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3

2001 • 25 citations

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome.

1998 • 24 citations

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

1998 • 23 citations

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

2001 • 22 citations