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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

The New England journal of medicine, 2008-10, Vol.359 (16), p.1685-1699

2008

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Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

Cytogenetic and genome research, 2011-12, Vol.135 (3-4), p.174-202

2011

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Estimates of live birth prevalence of children with Down syndrome in the period 1991–2015 in the Netherlands

Journal of intellectual disability research, 2017-05, Vol.61 (5), p.461-470

2017

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Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986-2007 in the Netherlands

Journal of intellectual disability research, 2011-05, Vol.55 (5), p.462-473

2011

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Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

Clinical genetics, 2009-10, Vol.76 (4), p.348-356

2009

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Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

Prenatal diagnosis, 2005-11, Vol.25 (11), p.1032-1039

2005

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Congenital diaphragmatic hernia associated with duplication of 11q23‐qter

American journal of medical genetics. Part A, 2006-07, Vol.140A (14), p.1580-1586

2006

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Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

Case reports in genetics, 2015-01, Vol.2015 (2015), p.1-7

2015

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Diploid/triploid mosaicism in dysmorphic patients

Clinical genetics, 2002-11, Vol.62 (5), p.376-382

2002

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Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes

Molecular syndromology, 2013, Vol.3 (6), p.274-283

2013

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Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins

American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1906-1911

2007

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Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

Prenatal diagnosis, 2008-05, Vol.28 (5), p.408-411

2008

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A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies

Genetics in medicine, 2010-08, Vol.12 (8), p.478-485

2010

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P.1.14 Submicroscopic duplications in the Prader-Willi/Angelman region on chromosome 15 detected with high resolution array comparative genomic hybridization

European neuropsychopharmacology, 2007, Vol.17, p.S13-S14

2007

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Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype

American journal of medical genetics, 2005-01, Vol.132A (1), p.93-100

2005

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Selective chromosome analysis in couples with two or more miscarriages: case-control study

BMJ, 2005-07, Vol.331 (7509), p.137-141

International edition, 2005

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The comparative genetics of human spermatogenesis: clues from flies and other model organisms

Results and problems in cell differentiation, 2000, Vol.28, p.271

2000

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Kinetics of meiosis in azoospermic males: a joint histological and cytological approach

Cytogenetic and genome research, 2004-01, Vol.105 (1), p.36-46

2004

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Estimates of live birth prevalence of children with D own syndrome in the period 1991–2015 in the N etherlands

Journal of intellectual disability research, 2017-05, Vol.61 (5), p.461-470

2017

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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

Molecular psychiatry, 2006-01, Vol.11 (1), p.18-28

2006

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De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Case reports in genetics, 2016-01, Vol.2016 (2016), p.1-5

2016

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Towards an understanding of the genetics of human male infertility: lessons from flies

Trends in genetics, 2000-12, Vol.16 (12), p.565-572

2000

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Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986-2007 in the Netherlands: Down syndrome birth prevalence in the Netherlands

Journal of intellectual disability research, 2011-05, Vol.55 (5), p.462-473

2011

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Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986a2007 in the Netherlands

Journal of intellectual disability research, 2011-05, Vol.55 (5), p.462-473

2011

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Transcription of gypsy elements in a Y-chromosome male fertility gene of Drosophila hydei

Genetics (Austin), 1996-02, Vol.142 (2), p.437-446

1996

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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

Estimates of live birth prevalence of children with Down syndrome in the period 1991–2015 in the Netherlands

Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986-2007 in the Netherlands

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

Congenital diaphragmatic hernia associated with duplication of 11q23‐qter

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

Diploid/triploid mosaicism in dysmorphic patients

Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins

Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies

P.1.14 Submicroscopic duplications in the Prader-Willi/Angelman region on chromosome 15 detected with high resolution array comparative genomic hybridization

Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype

Selective chromosome analysis in couples with two or more miscarriages: case-control study

The comparative genetics of human spermatogenesis: clues from flies and other model organisms

Kinetics of meiosis in azoospermic males: a joint histological and cytological approach

Estimates of live birth prevalence of children with D own syndrome in the period 1991–2015 in the N etherlands

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Towards an understanding of the genetics of human male infertility: lessons from flies

Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986-2007 in the Netherlands: Down syndrome birth prevalence in the Netherlands

Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986a2007 in the Netherlands

Transcription of gypsy elements in a Y-chromosome male fertility gene of Drosophila hydei

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