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

Nature genetics, 1994-09, Vol.8 (1), p.98-103

1994

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

Nature genetics, 1994-11, Vol.8 (3), p.269-274

1994

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TGFβ1 allele association with asthma severity

Human genetics, 2001-12, Vol.109 (6), p.623-627

2001

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

Nature genetics, 1995-02, Vol.9 (2), p.173-176

1995

Volltextzugriff (PDF)

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

Nature genetics, 1995-02, Vol.9 (2), p.165-172

1995

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Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma

Nature genetics, 2003-06, Vol.34 (2), p.181-186

2003

Volltextzugriff (PDF)

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

Journal of medical genetics, 1997-08, Vol.34 (8), p.632-636

1997

Volltextzugriff (PDF)

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

European journal of human genetics : EJHG, 1996, Vol.4 (5), p.283-291

1996

Volltextzugriff (PDF)

A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment

Journal of medical genetics, 2000-09, Vol.37 (9), p.692-694

2000

Volltextzugriff (PDF)

The genetics of craniosynostosis

Pulleyn, Louise Joan

1998

Volltextzugriff (PDF)

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

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

TGFβ1 allele association with asthma severity

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

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

Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

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

A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment

The genetics of craniosynostosis

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