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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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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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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 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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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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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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Human chromosome fragility

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

2008

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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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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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Psychotic disorders in Prader-Willi syndrome

American journal of medical genetics, 2004-06, Vol.127A (3), p.238-243

2004

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DISC1 duplication in two brothers with autism and mild mental retardation

Clinical genetics, 2010-04, Vol.77 (4), p.389-394

2010

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Novel PORCN mutations in focal dermal hypoplasia

Clinical genetics, 2009-12, Vol.76 (6), p.535-543

2009

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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Journal of medical genetics, 2005-04, Vol.42 (4), p.299-306

2005

Volltextzugriff (PDF)

Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Nature genetics, 2000-10, Vol.26 (2), p.247-250

2000

Volltextzugriff (PDF)

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

Human genetics, 2003-05, Vol.112 (5-6), p.573-580

2003

Volltextzugriff (PDF)

Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children

Journal of intellectual disability research, 2005-01, Vol.49 (1), p.33-46

2005

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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

Human mutation, 2005-01, Vol.25 (1), p.56-63

2005

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

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

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 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

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

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

Human chromosome fragility

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

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

Psychotic disorders in Prader-Willi syndrome

DISC1 duplication in two brothers with autism and mild mental retardation

Novel PORCN mutations in focal dermal hypoplasia

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

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