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IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

The journal of clinical endocrinology and metabolism, 2016-04, Vol.101 (4), p.1627-1636

2016

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Maturity onset diabetes of the young: Seek and you will find

Netherlands journal of medicine, 2016-06, Vol.74 (5), p.193-200

2016

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The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects

European journal of endocrinology, 2015-11, Vol.173 (5), p.611-621

2015

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Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

The journal of clinical endocrinology and metabolism, 2010-11, Vol.95 (11), p.E363-E367

2010

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Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit

European journal of endocrinology, 2008-08, Vol.159 (2), p.113-120

2008

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Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy

Journal of medical genetics, 2012-01, Vol.49 (1), p.37-40

2012

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Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

Hormone research in paediatrics, 2012-01, Vol.77 (5), p.320-333

2012

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A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation

European journal of endocrinology, 2012-04, Vol.166 (4), p.743-752

2012

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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

European journal of medical genetics, 2012-06, Vol.55 (6), p.404-413

2012

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Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

Journal of medical genetics, 2007-03, Vol.44 (3), p.e68-e68

2007

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Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.406-412

2013

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Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

Clinical genetics, 2014-01, Vol.85 (1), p.78-86

2014

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The association of urinary epidermal growth factors with ADPKD disease severity and progression

Nephrology, dialysis, transplantation, 2023-09, Vol.38 (10), p.2266-2275

2023

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Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.390-396

2013

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Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity‐onset diabetes of the young

Diabetic medicine, 2009-11, Vol.26 (11), p.1172-1174

2009

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Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

Diabetologia, 2008-04, Vol.51 (4), p.546-553

2008

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The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein

Growth hormone & IGF research, 2011-02, Vol.21 (1), p.44-50

2011

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Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency

European journal of neurology, 2007-04, Vol.14 (4), p.369-372

2007

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Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas

European journal of endocrinology, 2005-01, Vol.152 (1), p.87-94

2005

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Paradox of a better test for Huntington's disease

Journal of neurology, neurosurgery and psychiatry, 2000-11, Vol.69 (5), p.579-583

2000

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New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles

Journal of medical genetics, 2001-04, Vol.38 (4), p.e12-12

2001

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OR6,2 Short stature caused by a novel heterozygous mutation in the IGF-I gene

Growth hormone & IGF research, 2008, Vol.18, p.S12-S12

2008

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Family history and DNA analysis in patients with suspected Huntington's disease

Journal of neurology, neurosurgery and psychiatry, 2000-07, Vol.69 (1), p.54-59

2000

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Phenotypic features and response to growth hormone treatment of patients with a molecular defect of the IGF-1 receptor

Yearbook of Paediatric Endocrinology, 2019-09

2019

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Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities

Journal of medical genetics, 1999-03, Vol.36 (3), p.253-257

1999

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IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

Maturity onset diabetes of the young: Seek and you will find

The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects

Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

The association of urinary epidermal growth factors with ADPKD disease severity and progression

Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II

Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity‐onset diabetes of the young

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency

Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas

Paradox of a better test for Huntington's disease

New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles

OR6,2 Short stature caused by a novel heterozygous mutation in the IGF-I gene

Family history and DNA analysis in patients with suspected Huntington's disease

Phenotypic features and response to growth hormone treatment of patients with a molecular defect of the IGF-1 receptor

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities

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