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Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients

Hereditary cancer in clinical practice, 2005-09, Vol.3 (3), p.95-114, Article 95

2005

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Opinion on moderate/low cancer genetic risk markers in medical practice

Hereditary cancer in clinical practice, 2008-06, Vol.6 (2), p.61-63

2008

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MUTYH‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

International journal of cancer, 2006-08, Vol.119 (4), p.807-814

2006

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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)

Human mutation, 2007-10, Vol.28 (10), p.985-992

2007

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High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Human mutation, 2005-12, Vol.26 (6), p.513-519

2005

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Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

Pediatric blood & cancer, 2006-11, Vol.47 (6), p.811-818

2006

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MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.923-929

2014

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Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

European journal of human genetics : EJHG, 2004-01, Vol.12 (1), p.52-58

2004

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Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer

International journal of cancer, 2005-09, Vol.116 (5), p.692-702

2005

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Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining

The Journal of pathology, 2005-12, Vol.207 (4), p.385-395

2005

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Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: Establishment of immunohistochemical analysis as a screening test

The American journal of surgical pathology, 2002-03, Vol.26 (3), p.338-343

2002

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Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in MSH2 and MLH1 genes

International journal of cancer, 2003-02, Vol.103 (5), p.636-641

2003

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Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants

Human genetics, 2006-03, Vol.119 (1-2), p.9-22

2006

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Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene

Human mutation, 2004-11, Vol.24 (5), p.370-380

2004

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CLCN2 variants in idiopathic generalized epilepsy

Nature genetics, 2009-09, Vol.41 (9), p.954-955

2009

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Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis

Gastroenterology (New York, N.Y. 1943), 2001-08, Vol.121 (2), p.503-504

2001

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Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus

American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1314-1319

2008

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Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors

International journal of cancer, 2001-08, Vol.93 (3), p.445-449

2001

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Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

Human genetics, 2002-07, Vol.111 (1), p.108-111

2002

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Muir-Torre Phenotype Has a Frequency of DNA Mismatch-Repair-Gene Mutations Similar to That in Hereditary Nonpolyposis Colorectal Cancer Families Defined by the Amsterdam Criteria

American journal of human genetics, 1998-07, Vol.63 (1), p.63-70

1998

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Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

Human molecular genetics, 2002-04, Vol.11 (7), p.799-804

2002

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Analysis of Rare APC Variants at the mRNA Level: Six Pathogenic Mutations and Literature Review

The Journal of molecular diagnostics : JMD, 2009-03, Vol.11 (2), p.131-139

2009

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Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444

Human molecular genetics, 1995-03, Vol.4 (3), p.337-340

1995

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Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study

The lancet oncology, 2005-08, Vol.6 (8), p.566-572

2005

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Hereditary nonpolyposis colorectal cancer : pitfalls in deletion screening in MSH2 and MLH1 genes

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.983-986

2005

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Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients

Opinion on moderate/low cancer genetic risk markers in medical practice

MUTYH‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining

Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: Establishment of immunohistochemical analysis as a screening test

Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in MSH2 and MLH1 genes

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants

Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene

CLCN2 variants in idiopathic generalized epilepsy

Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus

Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

Muir-Torre Phenotype Has a Frequency of DNA Mismatch-Repair-Gene Mutations Similar to That in Hereditary Nonpolyposis Colorectal Cancer Families Defined by the Amsterdam Criteria

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

Analysis of Rare APC Variants at the mRNA Level: Six Pathogenic Mutations and Literature Review

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444

Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study

Hereditary nonpolyposis colorectal cancer : pitfalls in deletion screening in MSH2 and MLH1 genes

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