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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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Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients

Clinical endocrinology (Oxford), 2011-11, Vol.75 (5), p.650-655

2011

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Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review

Familial cancer, 2013-03, Vol.12 (1), p.43-50

2013

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High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas

The Journal of pathology, 2008-09, Vol.216 (1), p.25-31

2008

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The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP

Clinical genetics, 2007-12, Vol.72 (6), p.562-567

2007

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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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High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands

Clinical genetics, 2012-03, Vol.81 (3), p.284-288

2012

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Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations

Clinical genetics, 2011-12, Vol.80 (6), p.558-565

2011

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Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations

Clinical genetics, 2011-09, Vol.80 (3), p.243-255

2011

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A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

Ophthalmic genetics, 2010-12, Vol.31 (4), p.205-208

2010

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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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Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis

The Lancet (British edition), 1996-08, Vol.348 (9025), p.433-435

1996

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Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients: SDHD and Dutch patients with paraganglioma

Clinical endocrinology (Oxford), 2011-11, Vol.75 (5), p.650-655

2011

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Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-q22

Human genetics, 1988-06, Vol.79 (2), p.183-185

1988

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APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis

Human genetics, 1995-12, Vol.96 (6), p.705-710

1995

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A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli : implications for presymptomatic diagnosis

Human genetics, 1991-02, Vol.86 (4), p.365-368

1991

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

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

2007

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Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis

Human genetics, 1994-05, Vol.93 (5), p.494-501

1994

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Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers

The Lancet (British edition), 1989-12, Vol.2 (8676), p.1361-1363

1989

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Non-allelic heterogeneity of familial adenomatous polyposis

American journal of medical genetics, 1993-09, Vol.47 (4), p.563-567

1993

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PRESYMPTOMATIC DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS BY BRIDGING DNA MARKERS

The Lancet (British edition), 1989-12, Vol.334 (8676), p.1361-1363

1989

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Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis

American journal of medical genetics, 1992-07, Vol.43 (5), p.888-893

1992

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Germline mutations in the 3' part of APC exon 15 do not result in truncated protein and are associated with attenuated adenomatous polyposis coli

Human genetics, 1996, Vol.98 (6), p.727-734

1996

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Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus

Human molecular genetics, 1993-06, Vol.2 (6), p.829-829, Article 829

1993

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Four-base-pair deletion polymorphism at D5S71 (C11p11) linked to APC in the human chromosome 5q21-q22 region

Nucleic acids research, 1989-12, Vol.17 (24), p.10512-10512

1989

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Somatic APC mosaicism: an underestimated cause of polyposis coli

Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients

Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review

High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas

The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP

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

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands

Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

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

Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis

Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients: SDHD and Dutch patients with paraganglioma

Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-q22

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis

A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli : implications for presymptomatic diagnosis

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

Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis

Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers

Non-allelic heterogeneity of familial adenomatous polyposis

PRESYMPTOMATIC DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS BY BRIDGING DNA MARKERS

Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis

Germline mutations in the 3' part of APC exon 15 do not result in truncated protein and are associated with attenuated adenomatous polyposis coli

Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus

Four-base-pair deletion polymorphism at D5S71 (C11p11) linked to APC in the human chromosome 5q21-q22 region

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