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Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification

Clinical genetics, 2007-08, Vol.72 (2), p.122-129

2007

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A clinical and genetic overview of 18years neurofibromatosis type 1 molecular diagnostics in the Netherlands

Clinical genetics, 2014-04, Vol.85 (4), p.318

2014

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Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin

The Journal of biological chemistry, 2002-09, Vol.277 (38), p.35364-35370

2002

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Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

Human reproduction (Oxford), 2002-01, Vol.17 (1), p.13-16

2002

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Novel no-stop FLNA mutation causes multi-organ involvement in males

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2376-2384

2013

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The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

Oncogene, 2000-12, Vol.19 (54), p.6306-6316

2000

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Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin

The Journal of biological chemistry, 1999-12, Vol.274 (50), p.35647-35652

1999

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Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex

European journal of human genetics : EJHG, 2005-01, Vol.13 (1), p.59-68

2005

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TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

Human molecular genetics, 2001-12, Vol.10 (25), p.2889-2898

2001

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

Cell, 1993-12, Vol.75 (7), p.1305-1315

The European Chromosome 16 Tuberous Sclerosis Consortium

1993

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Survival in Hereditary Breast Cancer Associated With Germline Mutations of BRCA2

Journal of clinical oncology, 1999-11, Vol.17 (11), p.3396-3402

1999

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Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

Neurogenetics, 2009-10, Vol.10 (4), p.333-336

2009

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High Rate of Mosaicism in Tuberous Sclerosis Complex

American journal of human genetics, 1999-06, Vol.64 (6), p.1632-1637

1999

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The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16

Cell, 1994-06, Vol.77 (6), p.881-894

1994

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Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey

American journal of human genetics, 1997-09, Vol.61 (3), p.660-667

1997

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Phosphorylation and binding partner analysis of the TSC1–TSC2 complex

Biochemical and biophysical research communications, 2005-08, Vol.333 (3), p.818-826

2005

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Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients

Arteriosclerosis, thrombosis, and vascular biology, 1997-11, Vol.17 (11), p.2837

1997

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Complete FXN deletion in a patient with Friedreich's ataxia

Genetic testing and molecular biomarkers, 2012-09, Vol.16 (9), p.1015

2012

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Residual chloride secretion in intestinal tissue of ΔF508 homozygous twins and siblings with cystic fibrosis

Gastroenterology (New York, N.Y. 1943), 2000-07, Vol.119 (1), p.32-40

2000

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The fragile X syndrome

Journal of medical genetics, 1998-07, Vol.35 (7), p.579-589

1998

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Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

American journal of human genetics, 1998-07, Vol.63 (1), p.170-180

1998

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Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

Human molecular genetics, 1996-10, Vol.5 (10), p.1547-1557

1996

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Mental status of females with an FMR1 gene full mutation

American journal of human genetics, 1996-05, Vol.58 (5), p.1025-1032

1996

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Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins

Biochemical Society transactions, 2003-06, Vol.31 (Pt 3), p.587

2003

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Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families

European journal of cancer (1990), 2001-11, Vol.37 (16), p.2082-2090

2001

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Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification

A clinical and genetic overview of 18years neurofibromatosis type 1 molecular diagnostics in the Netherlands

Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

Novel no-stop FLNA mutation causes multi-organ involvement in males

The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

Identification and characterization of the tuberous sclerosis gene on chromosome 16

Survival in Hereditary Breast Cancer Associated With Germline Mutations of BRCA2

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

High Rate of Mosaicism in Tuberous Sclerosis Complex

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16

Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey

Phosphorylation and binding partner analysis of the TSC1–TSC2 complex

Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients

Complete FXN deletion in a patient with Friedreich's ataxia

Residual chloride secretion in intestinal tissue of ΔF508 homozygous twins and siblings with cystic fibrosis

The fragile X syndrome

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

Mental status of females with an FMR1 gene full mutation

Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families

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