S. Vogt

发表

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Peter Nürnberg, Per Hoffmann, Richard P Lifton, 2015, International journal of cancer.

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

D. Evans, P. Wark, J. Sampson, 2009, Gastroenterology.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Hiromi Hirata, K. Zerres, S. Rudnik-Schöneborn, 2016, American journal of human genetics.

Evidence for accelerated colorectal adenoma–carcinoma progression in MUTYH-associated polyposis?

J. Sampson, H. Vasen, S. Aretz, 2011, Gut.

Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

J. Sampson, H. Vasen, S. Aretz, 2009, Gastroenterology.

Detection of hepatitis C virus RNA in formalin-fixed, paraffin-embedded thin-needle liver biopsy specimens.

S. Klauck, R. Schneider-Stock, A. Roessner, 2003, American journal of clinical pathology.

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

C. Engel, P. Propping, J. Sampson, 2009, Gastroenterology.

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

A. Buske, L. Graul-Neumann, C. Kubisch, 2013, BMJ Open.

Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

M. Nöthen, H. Fröhlich, S. Moebus, 2015, International journal of cancer.

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

H. Hameister, P. Propping, S. Aretz, 2009, The Journal of molecular diagnostics : JMD.

Deep intronic APC mutations explain a substantial proportion of patients with familial or early‐onset adenomatous polyposis

P. Hoffmann, S. Aretz, M. Ludwig, 2012, Human mutation.

High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

R. Siebert, M. Stolte, L. Sunde, 2007, Journal of Medical Genetics.

Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families

D. Arango, G. Capellá, S. Schwartz, 2008, International journal of cancer.

Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients

O. Dekkers, H. Morreau, M. Janssen-Heijnen, 2010, Journal of the National Cancer Institute.

Survival of Mutyh-associated Polyposis Patients with Colorectal Cancer and Matched Control Colorectal Cancer Patients

H. Morreau, S. Aretz, M. Nielsen, 2022 .

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

C. Engel, P. Propping, J. Sampson, 2009, Gastroenterology.

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

R. Lifton, P. Hoffmann, P. Nürnberg, 2015, International journal of cancer.

Deep intronic APC mutations explain a substantial proportion of patients with familial or early‐onset adenomatous polyposis

P. Hoffmann, S. Aretz, M. Ludwig, 2012, Human mutation.