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Aetiology of hypospadias: a systematic review of genes and environment

Human reproduction update, 2012-05, Vol.18 (3), p.260-283

2012

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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Molecular psychiatry, 2008-03, Vol.13 (3), p.261-266

2008

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Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus

American journal of physiology. Renal physiology, 2007-01, Vol.292 (1), p.F253-F260

2007

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From Karyotyping to Array-CGH in Prenatal Diagnosis

Cytogenetic and genome research, 2011-12, Vol.135 (3-4), p.241-250

2011

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Congenital myopathy caused by a novel missense mutation in the CFL2 gene

Neuromuscular disorders : NMD, 2012-07, Vol.22 (7), p.632-639

2012

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Autosomal recessive cerebellar ataxias: the current state of affairs

Journal of Medical Genetics, 2011-10, Vol.48 (10), p.651-659

2011

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Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model

American journal of physiology. Renal physiology, 2005-08, Vol.289 (2), p.F265-F272

2005

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Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

Journal of neurology, neurosurgery and psychiatry, 2010-10, Vol.81 (10), p.1073-1078

2010

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Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

Journal of medical genetics, 2004-12, Vol.41 (12), p.892-899

2004

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Male patients affected by mosaic PCDH19 mutations: five new cases

Neurogenetics, 2017-07, Vol.18 (3), p.147-153

2017

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Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

Journal of neurology, 2007-10, Vol.254 (10), p.1356-1358

2007

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Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis

Neurology, 2002-03, Vol.58 (5), p.702

2002

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Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism

Molecular biology of the cell, 2006-01, Vol.17 (1), p.379-386

2006

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Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-Dependent Concentration of Urine

Science (American Association for the Advancement of Science), 1994-04, Vol.264 (5155), p.92-95

1994

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OP08.02: The value of genetic testing and morphological examination in children with gastroschisis

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.71-71

2017

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Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

Neurology, 2003-12, Vol.61 (12), p.1760

2003

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Journal of medical genetics, 2011-06, Vol.48 (6), p.390-395

2011

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Regulation of the vasopressin V2 receptor by vasopressin in polarized renal collecting duct cells

Molecular biology of the cell, 2004-12, Vol.15 (12), p.5693-5699

2004

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Molecular and cellular defects in nephrogenic diabetes insipidus

Pediatric nephrology (Berlin, West), 2001-12, Vol.16 (12), p.1146-1152

2001

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Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR

Human molecular genetics, 1998-03, Vol.7 (3), p.355-362

1998

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A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis

Journal of medical genetics, 2008-02, Vol.45 (2), p.122-124

2008

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Decreased bone density and treatment in patients with autosomal recessive cutis laxa

Acta Paediatrica, 2009-03, Vol.98 (3), p.490-494

2009

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Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus

Journal of the American Society of Nephrology, 1999-09, Vol.10 (9), p.1958-1964

1999

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Human syndromes with congenital patellar anomalies and the underlying gene defects

Clinical genetics, 2005-10, Vol.68 (4), p.302-319

2005

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Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Kidney international, 1998-09, Vol.54 (3), p.720-730

1998

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Aetiology of hypospadias: a systematic review of genes and environment

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus

From Karyotyping to Array-CGH in Prenatal Diagnosis

Congenital myopathy caused by a novel missense mutation in the CFL2 gene

Autosomal recessive cerebellar ataxias: the current state of affairs

Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

Male patients affected by mosaic PCDH19 mutations: five new cases

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis

Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism

Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-Dependent Concentration of Urine

OP08.02: The value of genetic testing and morphological examination in children with gastroschisis

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Regulation of the vasopressin V2 receptor by vasopressin in polarized renal collecting duct cells

Molecular and cellular defects in nephrogenic diabetes insipidus

Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis

Decreased bone density and treatment in patients with autosomal recessive cutis laxa

Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus

Human syndromes with congenital patellar anomalies and the underlying gene defects

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

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