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Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update

Journal of intellectual disability research, 2007-09, Vol.51 (9), p.666-670

2007

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Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

Kidney international, 2006-09, Vol.70 (6), p.1155-1169

2006

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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Journal of medical genetics, 2005-10, Vol.42 (10), p.780-786

2005

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Molecular psychiatry, 2010-07, Vol.15 (7), p.767-776

2010

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

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GATA3 haplo-insufficiency causes human HDR syndrome

Nature (London), 2000-07, Vol.406 (6794), p.419-422

2000

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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80

2008

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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Nature (London), 1998-04, Vol.392 (6679), p.923-926

1998

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Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

Nature genetics, 1999-01, Vol.21 (1), p.142-144

1999

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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

Human mutation, 2009-09, Vol.30 (9), p.E845-E854

2009

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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

American journal of human genetics, 2005-08, Vol.77 (2), p.205-218

2005

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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Journal of medical genetics, 2004-09, Vol.41 (9), p.691-698

2004

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PTPN11 mutations in LEOPARD syndrome

Journal of medical genetics, 2002-08, Vol.39 (8), p.571-574

2002

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Congenital hydrocephalus : nosology and guidelines for clinical approach and genetic counselling

European journal of pediatrics, 1998-05, Vol.157 (5), p.355-362

1998

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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Journal of medical genetics, 2008-02, Vol.45 (2), p.93-99

2008

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Nature genetics, 2001-03, Vol.27 (3), p.313-317

2001

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17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Journal of medical genetics, 2009-08, Vol.46 (8), p.524-530

2009

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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

Journal of medical genetics, 2006-04, Vol.43 (4), p.362-370

2006

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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Journal of medical genetics, 2010-02, Vol.47 (2), p.103-111

2010

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Human chromosome fragility

Biochimica et biophysica acta, 2008, Vol.1779 (1), p.3-16

2008

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Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

Journal of medical genetics, 1997-06, Vol.34 (6), p.453-458

1997

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Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

Clinical genetics, 2012-06, Vol.81 (6), p.584-589

2012

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Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29

Dermatology (Basel), 2011-01, Vol.223 (4), p.306

2011

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The annual incidence of DiGeorge/velocardiofacial syndrome

Journal of medical genetics, 1998-09, Vol.35 (9), p.789-790

1998

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Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

GATA3 haplo-insufficiency causes human HDR syndrome

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

PTPN11 mutations in LEOPARD syndrome

Congenital hydrocephalus : nosology and guidelines for clinical approach and genetic counselling

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Human chromosome fragility

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29

The annual incidence of DiGeorge/velocardiofacial syndrome

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