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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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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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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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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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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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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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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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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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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

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

European heart journal, 2007-11, Vol.28 (22), p.2778-2784

2007

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Rett syndrome in females with CTS hot spot deletions: A disorder profile

American journal of medical genetics, 2005-01, Vol.132A (2), p.117-120

2005

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Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

Cytogenetic and genome research, 2006-11, Vol.115 (3-4), p.225-230

2006

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Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

American journal of human genetics, 2000-07, Vol.67 (1), p.197-202

2000

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Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)

European journal of medical genetics, 2005-10, Vol.48 (4), p.377-387

2005

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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

Human molecular genetics, 2003-08, Vol.12 (16), p.1995-2001

2003

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Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

American journal of human genetics, 2003-06, Vol.72 (6), p.1470-1478

2003

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

American journal of human genetics, 2005-02, Vol.76 (2), p.227-236

2005

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Family Contexts, Parental Behaviour, and Personality Profiles of Children and Adolescents with Prader-Willi, Fragile-X, or Williams Syndrome

Journal of child psychology and psychiatry, 1998-07, Vol.39 (5), p.699-710, Article S002196309800256X

1998

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The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence

Genetic counseling, 1999, Vol.10 (1), p.79

1999

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Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1

American journal of human genetics, 1999-04, Vol.64 (4), p.1119-1126

1999

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Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay

Journal of medical genetics, 2001-09, Vol.38 (9), p.621-624

2001

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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Journal of medical genetics, 2011-06, Vol.48 (6), p.375-382

2011

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

American journal of human genetics, 2003-02, Vol.72 (2), p.478-487

2003

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Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Journal of medical genetics, 2010-08, Vol.47 (8), p.569-574

2010

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The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15

Journal of medical genetics, 2008-03, Vol.45 (3), p.189-192

2008

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

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

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

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

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

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

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

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

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

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

Rett syndrome in females with CTS hot spot deletions: A disorder profile

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Family Contexts, Parental Behaviour, and Personality Profiles of Children and Adolescents with Prader-Willi, Fragile-X, or Williams Syndrome

The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence

Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1

Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15

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