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Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

autor

Hanka Venselaar

Edwin P. Kirk

Michael T Gabbett

Julie McGaughran

Matthew Edwards

Tiong Y Tan

David J Amor

Susan White

publicat în: American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Data de publicare: 2013-10-11

Subiectul principal: Noua Zeelandă, craniosynostosis

Citează articole 31

Dată

Title

Autori

2013-01-27

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Aimée L Fenwick, Alexander Kanapin, Simon J McGowan, Andrew Oliver Mungo Wilkie, Peter J van der Spek, Irene M J Mathijssen, Jacqueline A C Goos, A Jeannette M Hoogeboom, Julie Phipps
2013-01-27

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Andrew Oliver Mungo Wilkie, Stephen Twigg, Aimée L Fenwick, Simon J McGowan, Paul T Sharpe, Andreas Zaragkoulias, Alain Verloes, Tracy Lester
2012-12-01

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Jinoh Kim, Ethylin Wang Jabs, Alexander F Wilson, Andrew Oliver Mungo Wilkie
2011-03-31

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel

Núria López-Bigas, Abel Gonzalez-Perez
2011-09-08

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

Lisenka Vissers, Murat Maga, Kieran M Short, Débora R Bertola, Daiji Kiyozumi, Hans Van Bokhoven, Joris A Veltman, Maria Rita Passos-Bueno, Fernanda S Jehee, Tony Roscioli, Carlo L Marcelis
2010-09-10

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Christian Gilissen, Peer Arts, Joris A Veltman, Alexander Hoischen, Han Brunner, Jeroen van Reeuwijk, Nine V. A. M. Knoers, Sarina G. Kant, Liesbeth Spruijt, Marloes Steehouwer
2010-07-19

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis

Andrew Oliver Mungo Wilkie, Samantha J.L. Knight, Stephen Twigg
2009-02-01

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

Prescott Deininger, Andrew Oliver Mungo Wilkie, Elena G. Bochukova
2009-12-01

The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome

Donna M McDonald-McGinn
2009-04-30

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

Andrew Oliver Mungo Wilkie, Gudrun Nürnberg, Peter J Scambler, Peter Nürnberg, Raoul Hennekam, Dianne Gerrelli
2008-01-01

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations

Erika Yeh, Maria Rita Passos-Bueno
2008-11-01

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

Graham Byrnes, Alun Thomas, David Goldgar
2007-04-01

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

Alex A. Kane, Richard Ellenbogen
2005-08-01

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

Shireen R Lamandé
2004-06-08

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Stephen Twigg, Elena G. Bochukova, Stephen Robertson, Andrew Oliver Mungo Wilkie
2002-02

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

Andrew Oliver Mungo Wilkie, Maximilian Muenke, Alain Verloes, Donna M McDonald-McGinn
2002-05-15

Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field

Gert Vriend, Günther Koraimann
2001-01-01

Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations
2000-07-01

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

Valentine Hyland
1998-05-01

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

Ralph S. Lachman
1997-04-01

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

Andrew Oliver Mungo Wilkie, Maximilian Muenke
1997-01-01

Craniosynostosis: genes and mechanisms

Andrew Oliver Mungo Wilkie
1996-10-01

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

Gary Bellus, Lorne Clarke
1995-12-01

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
1995-02

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

Baraitser M
1995-02-01

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

Andrew Oliver Mungo Wilkie
1994-11

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
1994-11

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
1994-09

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
1993-11-01

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

Ethylin Wang Jabs
1990-03

WHAT IF: a molecular modeling and drug design program

Gert Vriend

Articol - wd:Q38446069

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