(Q41491086)

1 October 2017

1 reference

title

Fibroblast growth factors, their receptors and receptor disorders (English)

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1 October 2017

Gorlin RJ

1

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1 October 2017

publication date

1 April 1997

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Journal of Cranio-Maxillofacial Surgery

1 October 2017

published in

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1 October 2017

volume

25

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1 October 2017

issue

2

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1 October 2017

page(s)

69-79

1 reference

Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter

1 October 2017

cites work

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7 January 2021

A severe case of Beare-Stevenson syndrome and associated congenital deformities

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7 January 2021

Effective indirect pulp capping (Cp-treatment)

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7 January 2021

Progressive bony dysplasia in Apert syndrome

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7 January 2021

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

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7 January 2021

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

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7 January 2021

Craniosynostoses: phenotypic/molecular correlations

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7 January 2021

Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods

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7 January 2021

Birth prevalence study of the Apert syndrome

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7 January 2021

Transforming growth factor beta s and fibroblast growth factors and their receptors: role in sutural biology and craniosynostosis

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7 January 2021

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

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7 January 2021

Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings

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7 January 2021

A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene

1 reference

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7 January 2021

Crouzon disease with acanthosis nigricans and melanocytic nevi

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7 January 2021

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome

1 reference

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7 January 2021

Hypochondroplasia: Clinical and Radiological Aspects in 39 cases

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7 January 2021

Beare-Stevenson cutis gyrata syndrome

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7 January 2021

Localization of craniosynostosis Adelaide type to 4p16.

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7 January 2021

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

1 reference

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7 January 2021

Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred

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7 January 2021

An association of acanthosis nigricans and Crouzon syndrome

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7 January 2021

Cloverleaf skull associated with Pfeiffer syndrome: pathology and management

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7 January 2021

FGFR2 mutations in Pfeiffer syndrome

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7 January 2021

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

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7 January 2021

Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia

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7 January 2021

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

1 reference

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7 January 2021

Growth and development in thanatophoric dysplasia.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Exclusive paternal origin of new mutations in Apert syndrome

1 reference

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7 January 2021

Spinal neurological complications of achondroplasia. Results of surgical treatment

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Fibroblast-growth-factor receptor mutations in human skeletal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

An unusual association of acanthosis nigricans and Crouzon's disease--a case report

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Clinical and genetic heterogeneity of hypochondroplasia

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Variable expression in Pfeiffer syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Achondroplasia-hypochondroplasia complex

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Cutis gyratum and acanthosis nigricans associated with other anomalies: a distinctive syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Pfeiffer's type of acrocephalosyndactyly in two families.

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

The gene for achondroplasia maps to the telomeric region of chromosome 4p

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

Thanatophoric Dwarfism and Cloverleaf Skull (“Kleeblattschädel”)

1 reference

https://api.crossref.org/works/10.1016%2FS1010-5182%2897%2980048-0

7 January 2021

10.1016/S1010-5182(97)80048-0

Identifiers

DOI

1 reference

1 October 2017

1 reference