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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Journal of Medical Genetics, 2011-05, Vol.48 (5), p.334-342

2011

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Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

Orphanet journal of rare diseases, 2019-12, Vol.14 (1), p.294-294, Article 294

2019

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Neuropsychological phenotype and psychopathology in seven adult patients with Phelan‐McDermid syndrome: implications for treatment strategy

Genes, brain and behavior, 2016-04, Vol.15 (4), p.395-404

2016

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CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

Clinical genetics, 2009-01, Vol.75 (1), p.65-71

2009

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3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1223-1230

2015

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Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes

Human reproduction (Oxford), 2012-09, Vol.27 (9), p.2850-2856

2012

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Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences

Human reproduction (Oxford), 2017-12, Vol.32 (12), p.2574-2580

2017

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Who should be screened for chromosomal abnormalities before ICSI treatment?

Human reproduction (Oxford), 2010-11, Vol.25 (11), p.2673-2677

2010

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The prevalence of chromosomal abnormalities in subgroups of infertile men

Human reproduction (Oxford), 2012-01, Vol.27 (1), p.36-43

2012

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Molecular and clinical studies in 8 patients with Temple syndrome

Clinical genetics, 2018-06, Vol.93 (6), p.1179-1188

2018

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Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

American journal of neuroradiology : AJNR, 2018-10, Vol.39 (10), p.1938-1942

2018

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Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Genes, brain and behavior, 2014-06, Vol.13 (5), p.459-467

2014

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Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD

Human reproduction (Oxford), 2015-02, Vol.30 (2), p.484-489

2015

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Death in CHARGE syndrome after the neonatal period

Clinical genetics, 2010-03, Vol.77 (3), p.232-240

2010

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De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

Clinical genetics, 2018-05, Vol.93 (5), p.1030-1038

2018

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CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery

European archives of oto-rhino-laryngology, 2016-12, Vol.273 (12), p.4225-4240

2016

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An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

European journal of medical genetics, 2009-09, Vol.52 (5), p.353-357

2009

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Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis

Human reproduction (Oxford), 2013-11, Vol.28 (11), p.3141-3145

2013

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Recurring HRAS mutation G12S in Dutch patients with Costello syndrome

Experimental dermatology, 2006-09, Vol.15 (9), p.731-734

2006

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Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2

Molecular syndromology, 2013-09, Vol.4 (6), p.302-305

2013

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More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

Molecular syndromology, 2013-06, Vol.4 (5), p.235-245

2013

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Update on Kleefstra Syndrome

Molecular syndromology, 2012-04, Vol.2 (3-5), p.202-212

2012

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Telomeres: a diagnosis at the end of the chromosomes

Journal of medical genetics, 2003-06, Vol.40 (6), p.385-398

2003

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Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces

European journal of paediatric neurology, 2017-11, Vol.21 (6), p.912-920

2017

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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

Neuropsychological phenotype and psychopathology in seven adult patients with Phelan‐McDermid syndrome: implications for treatment strategy

CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients

Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes

Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences

Who should be screened for chromosomal abnormalities before ICSI treatment?

The prevalence of chromosomal abnormalities in subgroups of infertile men

Molecular and clinical studies in 8 patients with Temple syndrome

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD

Death in CHARGE syndrome after the neonatal period

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome

Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

Update on Kleefstra Syndrome

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Telomeres: a diagnosis at the end of the chromosomes

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces

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