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Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

Clinical genetics, 2011-01, Vol.79 (1), p.49-59

2011

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

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The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

The journal of clinical endocrinology and metabolism, 2013-12, Vol.98 (12), p.4942-4952

2013

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Somatic APC mosaicism: an underestimated cause of polyposis coli

Gut, 2008-01, Vol.57 (1), p.71-76

2008

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Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

Clinical genetics, 2009-05, Vol.75 (5), p.465-472

2009

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Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

European journal of medical genetics, 2009-03, Vol.52 (2), p.77-87

2009

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A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor

The journal of clinical endocrinology and metabolism, 2006-08, Vol.91 (8), p.3062-3070

2006

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Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

Journal of medical genetics, 2005-09, Vol.42 (9), p.e54-e54

2005

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Cerebral microbleeds in CADASIL

Neurology, 2001-09, Vol.57 (6), p.1066-1070

2001

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An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Clinical genetics, 2013-04, Vol.83 (4), p.337-344

2013

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A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

Netherlands heart journal, 2017-12, Vol.25 (12), p.675-681

2017

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Conjunction dysfunction: CBP/p300 in human disease

Trends in genetics, 1998-05, Vol.14 (5), p.178-183

1998

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Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis

Clinical genetics, 2007-05, Vol.71 (5), p.427-433

2007

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Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Clinical genetics, 2011-03, Vol.79 (3), p.236-242

2011

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PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

Science (American Association for the Advancement of Science), 1996-05, Vol.272 (5266), p.1339-1342

1996

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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

Journal of medical genetics, 2001-05, Vol.38 (5), p.318-322

2001

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Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

Human molecular genetics, 2007-12, Vol.16 (24), p.3188-3196

2007

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Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways

Human molecular genetics, 2009-07, Vol.18 (14), p.2532-2542

2009

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Genetic counselling and the intention to undergo prophylactic mastectomy: effects of a breast cancer risk assessment

British journal of cancer, 2003-06, Vol.88 (11), p.1675-1681

2003

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What do women really want to know? Motives for attending familial breast cancer clinics

Journal of medical genetics, 2002-06, Vol.39 (6), p.410-414

2002

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Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

American journal of human genetics, 2005-04, Vol.76 (4), p.572-580

2005

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Tall stature and duplication of the insulin-like growth factor I receptor gene

European journal of medical genetics, 2007-01, Vol.50 (1), p.1-10

2007

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X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Clinical genetics, 2011-01, Vol.79 (1), p.71-78

2011

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Risk estimation for healthy women from breast cancer families: New insights and new strategies

Cancer epidemiology, biomarkers & prevention, 2004, Vol.13 (1), p.87-93

2004

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Genomic imbalances in mental retardation

Journal of medical genetics, 2004-04, Vol.41 (4), p.249-255

2004

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Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

Somatic APC mosaicism: an underestimated cause of polyposis coli

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

Cerebral microbleeds in CADASIL

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

Conjunction dysfunction: CBP/p300 in human disease

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways

Genetic counselling and the intention to undergo prophylactic mastectomy: effects of a breast cancer risk assessment

What do women really want to know? Motives for attending familial breast cancer clinics

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Tall stature and duplication of the insulin-like growth factor I receptor gene

X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Risk estimation for healthy women from breast cancer families: New insights and new strategies

Genomic imbalances in mental retardation

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