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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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Male patients affected by mosaic PCDH19 mutations: five new cases

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

2017

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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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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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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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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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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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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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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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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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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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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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New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels

Journal of the American Society of Nephrology, 1997-02, Vol.8 (2), p.242-248

1997

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

Neurology, 2002-03, Vol.58 (5), p.702-708

2002

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Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype

Journal of neurology, 2001-10, Vol.248 (10), p.911-914

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

Neurology, 2003-12, Vol.61 (12), p.1760-1765

2003

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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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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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Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

The Journal of clinical investigation, 2007-08, Vol.117 (8), p.2260-2267

2007

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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

Male patients affected by mosaic PCDH19 mutations: five new cases

Aetiology of hypospadias: a systematic review of genes and environment

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

Autosomal recessive cerebellar ataxias: the current state of affairs

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

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

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

From Karyotyping to Array-CGH in Prenatal Diagnosis

Molecular and cellular defects in nephrogenic diabetes insipidus

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

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels

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

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

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

Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype

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

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

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

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

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

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