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A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

American journal of human genetics, 2007-08, Vol.81 (2), p.388-396

2007

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Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

Clinical genetics, 2016-09, Vol.90 (3), p.270-275

2016

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Cellular evidence for selfish spermatogonial selection in aged human testes

Andrology (Oxford), 2014-05, Vol.2 (3), p.304-314

2014

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Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

Journal of medical genetics, 2009-11, Vol.46 (11), p.730-735

2009

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Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault

Development (Cambridge), 1999-12, Vol.126 (24), p.5611-5620

1999

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Ethical review of research into rare genetic disorders

BMJ, 2004-07, Vol.329 (7460), p.288-289

International edition, 2004

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Craniosynostosis: Genes and Mechanisms

Human molecular genetics, 1997-01, Vol.6 (10), p.1647-1656

WILKIE, A. O. M

1997

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Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.995-1001

2014

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Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

American journal of human genetics, 1996-05, Vol.58 (5), p.923-932

1996

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A Review of the Molecular Genetics of the Human α-Globin Gene Cluster

Blood, 1989-04, Vol.73 (5), p.1081-1104

1989

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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Nature genetics, 2000-08, Vol.25 (4), p.419-422

2000

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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Nature genetics, 2000-04, Vol.24 (4), p.387-390

2000

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Cellular correlates of selfish spermatogonial selection

Andrology (Oxford), 2016-05, Vol.4 (3), p.550-553

2016

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Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

Nature genetics, 2000-03, Vol.24 (3), p.275-278

2000

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The molecular basis of genetic dominance

Journal of medical genetics, 1994-02, Vol.31 (2), p.89-98

Wilkie, A O

1994

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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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Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

American journal of human genetics, 2000-03, Vol.66 (3), p.768-777

2000

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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

Nature genetics, 1995-02, Vol.9 (2), p.132-140

1995

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De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.446-461

1999

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Fgfr2 and osteopontin domains in the developing skull vault are mutually exclusive and can be altered by locally applied FGF2

Development (Cambridge), 1997-09, Vol.124 (17), p.3375-3384

1997

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

American journal of human genetics, 1997-03, Vol.60 (3), p.555-564

1997

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Exclusive paternal origin of new mutations in Apert syndrome

Nature genetics, 1996-05, Vol.13 (1), p.48-53

1996

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A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

American journal of human genetics, 1998-11, Vol.63 (5), p.1282-1293

1998

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A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22

Human molecular genetics, 1997-10, Vol.6 (11), p.1937-1941

1997

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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

Clinical genetics, 2005-06, Vol.67 (6), p.503-510

2005

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A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

Cellular evidence for selfish spermatogonial selection in aged human testes

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault

Ethical review of research into rare genetic disorders

Craniosynostosis: Genes and Mechanisms

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

A Review of the Molecular Genetics of the Human α-Globin Gene Cluster

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Cellular correlates of selfish spermatogonial selection

Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

The molecular basis of genetic dominance

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

Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome

Fgfr2 and osteopontin domains in the developing skull vault are mutually exclusive and can be altered by locally applied FGF2

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

Exclusive paternal origin of new mutations in Apert syndrome

A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

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