(Q52135591)

22 April 2018

editorial

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title

Jackson-Weiss syndrome. (English)

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22 April 2018

author name string

Cohen MM Jr

series ordinal

1

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22 April 2018

publication date

1 May 2001

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22 April 2018

American Journal of Medical Genetics Part A

published in

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22 April 2018

volume

100

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22 April 2018

page(s)

325-329

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22 April 2018

issue

4

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22 April 2018

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

cites work

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

21 January 2018

1 reference

Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred

21 January 2018

1 reference

Localization of craniosynostosis Adelaide type to 4p16.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The roles of FGFs in the early development of vertebrate limbs

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

21 January 2018

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

21 January 2018

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Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

21 January 2018

1 reference

Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud development

21 January 2018

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

21 January 2018

1 reference

Craniofacial syndromes: no such thing as a single gene disease

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1271

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22 April 2018

PubMed ID

11343324

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22 April 2018