B. Redeker

发表

Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments.

A. Feinberg, D. Schlessinger, P. Taillon-Miller, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Phenotype in SMC 1 A Phenotypes and Genotypes in Individuals with SMC 1 A Mutations

Chris, Valérie, R. Hennekam, 2018 .

Molecular, Cytogenetic and Linkage Analysis of Chromosome 11p Regions Involved in Wilms’ Tumour and Associated Congenital Diseases

C. Heyting, P. Little, P. Voûte, 1991 .

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

P. Møller, A. Lindblom, A. Wagner, 2015, Journal of Clinical Oncology.

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

P. Møller, O. Dekkers, A. Lindblom, 2015, Genetics in Medicine.

SNP association study in PMS2-associated Lynch syndrome

E. Steyerberg, A. Wagner, T. van Wezel, 2017, Familial Cancer.

Cytogenetic and molecular analysis of cellular atypical mesoblastic nephroma

F. Speleman, E. van den Berg, R. Tamminga, 1998, Genes, chromosomes & cancer.

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

Y. Fukushima, W. Bickmore, S. Boyle, 1995, Human molecular genetics.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Rodney J Scott, John-Paul Plazzer, Finlay Macrae, 2013, Nature Genetics.

A specific mutation in TBL1XR1 causes Pierpont syndrome

Francesca Forzano, G Bradley Schaefer, Aldo Jongejan, 2016, Journal of Medical Genetics.

Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors.

A. Feinberg, P. Little, M. Steenman, 1996, Medical and pediatric oncology.

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Julie O. Culver, M. Kloor, P. Hutter, 2011, Human mutation.

Detection of Chromosome Abnormalities by Quantitative Fluorescent PCR in Ectopic Pregnancies

M. Goddijn, S. Repping, F. van der Veen, 2005, Gynecologic and Obstetric Investigation.

UvA-DARE ( Digital Academic Repository ) Measuring the effects of genetic testing : studies on thrombophilia , sickle cell trait , recurrent miscarriage and male subfertility

P. Bossuyt, M. Goddijn, S. Snijder, 2011 .

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

P. Devilee, C. Asperen, S. Verhoef, 2016, Human mutation.

Mutations in ZBTB20 cause Primrose syndrome

F. Baas, R. Hennekam, Alison M. Male, 2014, Nature Genetics.

Cloning of candidate genes involved in the Beckwith-Wiedemann syndrome and childhood tumors.

A. Feinberg, P. Little, A. Westerveld, 1996, Medical and pediatric oncology.

Comparative genomic hybridization analysis of Wilms tumors.

P. Voûte, M. Steenman, A. Westerveld, 1996, Cytogenetics and cell genetics.

Characterization of a de novo duplication of 11p14----p13, using fluorescent in situ hybridization and southern hybridization.

F. Speleman, P. van Oostveldt, M. Mannens, 1991, Cytogenetics and cell genetics.

Comparative genomic hybridization analysis of Wilms tumors

M. Steenman, A. Westerveld, K. Wiesmeijer, 1997 .

The generation of ordered sets of cosmid DNA clones from human chromosome region 11p.

S. Gregory, A. Ivens, D. Porteous, 1992, Genomics.

A large family with MSH3-related polyposis

E. Dekker, C. V. van Noesel, F. Duijkers, 2022, Familial Cancer.

SNP association study in PMS2-associated Lynch syndrome

E. Steyerberg, A. Wagner, C. Tops, 2017, Familial Cancer.

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

P. Møller, A. Lindblom, I. Bernstein, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.