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Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

Clinical genetics, 2012-08, Vol.82 (2), p.121-130

2012

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Long-term sequelae of Helicobacter pylori gastritis

The Lancet (British edition), 1995-06, Vol.345 (8964), p.1525-1528

1995

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Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

British journal of cancer, 2002-10, Vol.87 (8), p.892-897

2002

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Genome-wide linkage in a large dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13

Stroke (1970), 2004-10, Vol.35 (10), p.2276-2281

2004

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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

Nature genetics, 2005-09, Vol.37 (9), p.934-935

2005

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Compound-heterozygous Marfan syndrome

European journal of medical genetics, 2009-01, Vol.52 (1), p.1-5

2009

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Biallelic Inactivation of BRCA2 in Fanconi Anemia

Science (American Association for the Advancement of Science), 2002-07, Vol.297 (5581), p.606-609

2002

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Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan’s syndrome

Heart (British Cardiac Society), 2006-07, Vol.92 (7), p.977-978

2006

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Seroconversion for Helicobacter pylori

The Lancet (British edition), 1993-08, Vol.342 (8867), p.328-331

1993

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Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Thorax, 2012-04, Vol.67 (4), p.289-295

2012

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Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition

Histopathology, 2003-07, Vol.43 (1), p.26-32

2003

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X-linked inheritance of Fanconi anemia complementation group B

Nature genetics, 2004-11, Vol.36 (11), p.1219-1224

2004

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Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21

Human molecular genetics, 1996-01, Vol.5 (1), p.151-154

1996

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Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer

The Journal of pathology, 2001-11, Vol.195 (4), p.451-456

2001

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Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

Clinical genetics, 2003-03, Vol.63 (3), p.224-227

2003

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The role of type III collagen in spontaneous cervical arterial dissections

Annals of neurology, 1998-04, Vol.43 (4), p.494-498

1998

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Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13

Circulation (New York, N.Y.), 2004-05, Vol.109 (17), p.2103-2108

2004

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A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing

Journal of clinical pathology, 2005-05, Vol.58 (5), p.493-499

2005

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Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

Cancer research (Chicago, Ill.), 2003-04, Vol.63 (7), p.1449-1453

2003

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Vascular type of Ehlers-Danlos syndrome in a patient with a ruptured aneurysm of the splenic artery

Netherlands journal of medicine, 2006-11, Vol.64 (10), p.374-376

2006

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Type III collagen deficiency in saccular intracranial aneurysms: Defect in gene regulation?

Stroke (1970), 1999-08, Vol.30 (8), p.1628-1631

1999

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Anticipation in familial intracranial aneurysms in consecutive generations

European journal of human genetics : EJHG, 2003-10, Vol.11 (10), p.737-743

2003

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Enhanced assessment of allogeneic bone marrow transplant engraftment using automated fluorescent-based typing

Bone marrow transplantation (Basingstoke), 1999-12, Vol.24 (11), p.1235-1241

1999

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Clinical and genetic evaluation of thirty ovarian cancer families

American journal of obstetrics and gynecology, 1998, Vol.178 (1), p.85-90

1998

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Searching for preeclampsia genes: the current position

European journal of obstetrics & gynecology and reproductive biology, 2002-11, Vol.105 (2), p.94-113

2002

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Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

Long-term sequelae of Helicobacter pylori gastritis

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

Genome-wide linkage in a large dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

Compound-heterozygous Marfan syndrome

Biallelic Inactivation of BRCA2 in Fanconi Anemia

Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan’s syndrome

Seroconversion for Helicobacter pylori

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition

X-linked inheritance of Fanconi anemia complementation group B

Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21

Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

The role of type III collagen in spontaneous cervical arterial dissections

Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13

A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

Vascular type of Ehlers-Danlos syndrome in a patient with a ruptured aneurysm of the splenic artery

Type III collagen deficiency in saccular intracranial aneurysms: Defect in gene regulation?

Anticipation in familial intracranial aneurysms in consecutive generations

Enhanced assessment of allogeneic bone marrow transplant engraftment using automated fluorescent-based typing

Clinical and genetic evaluation of thirty ovarian cancer families

Searching for preeclampsia genes: the current position

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