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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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Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

European journal of medical genetics, 2012-11, Vol.55 (11), p.577-585

2012

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NRAS Mutations in Noonan Syndrome

Molecular syndromology, 2012-06, Vol.3 (1), p.34-38

2012

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Human chromosome fragility

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

2008

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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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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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Mathematical disabilities in children with velo-cardio-facial syndrome

Neuropsychologia, 2007-01, Vol.45 (5), p.885-895

2007

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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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Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions

Human reproduction (Oxford), 2009-06, Vol.24 (6), p.1522-1528

2009

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A Comparative Study on Culture Conditions and Routine Expansion of Amniotic Fluid-Derived Mesenchymal Progenitor Cells

Fetal diagnosis and therapy, 2013-01, Vol.34 (4), p.225-235

2013

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Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome

Human mutation, 2003-08, Vol.22 (2), p.116-120

2003

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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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Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.17-23

2006

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Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T's. Look at the hands

Facts, views & vision in ObGyn, 2011-01, Vol.3 (1), p.15-21

2011

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Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings

American journal of medical genetics, 2003-10, Vol.122A (3), p.227-233

2003

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Intelligence in individuals with a neurofibromatosis type 1 microdeletion

American journal of medical genetics, 2004-12, Vol.131A (3), p.325-326

2004

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Preimplantation genetic diagnosis for an insertional translocation carrier

Human reproduction (Oxford), 2004-12, Vol.19 (12), p.2777-2783

2004

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Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia

American journal of medical genetics, 2001-11, Vol.103 (4), p.278-282

2001

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Letter to the Editor. Syndromic forms of hydrometrocolpos

Prenatal diagnosis, 1997-01, Vol.17 (1), p.87-87

Fryns, J.P.

1997

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Multiple circumferential skin creases: Another sign of genetic mosaicism?

American journal of medical genetics. Part A, 2004-12, Vol.131A (2), p.219-220

2004

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Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation

American journal of medical genetics. Part A, 2004-01, Vol.124A (3), p.259-262

2004

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Gross rearrangements in theMECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome

Human mutation, 2003-08, Vol.22 (2), p.116-120

2003

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Nuchal edema as the first sign of fetal valproate syndrome

Prenatal diagnosis, 2002-09, Vol.22 (9), p.834-835

2002

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The lethal multiple pterygium syndrome: prenatal ultrasonographic and postmortem findings; a case report

European journal of obstetrics & gynecology and reproductive biology, 1990-05, Vol.35 (2), p.283-289

1990

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

Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

NRAS Mutations in Noonan Syndrome

Human chromosome fragility

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

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

Mathematical disabilities in children with velo-cardio-facial syndrome

Psychotic disorders in Prader-Willi syndrome

Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions

A Comparative Study on Culture Conditions and Routine Expansion of Amniotic Fluid-Derived Mesenchymal Progenitor Cells

Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome

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

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T's. Look at the hands

Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings

Intelligence in individuals with a neurofibromatosis type 1 microdeletion

Preimplantation genetic diagnosis for an insertional translocation carrier

Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia

Letter to the Editor. Syndromic forms of hydrometrocolpos

Multiple circumferential skin creases: Another sign of genetic mosaicism?

Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation

Gross rearrangements in theMECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome

Nuchal edema as the first sign of fetal valproate syndrome

The lethal multiple pterygium syndrome: prenatal ultrasonographic and postmortem findings; a case report

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