Results 141 to 150 of about 1,537,452 (154)

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency

Human Mutation, 2022
Heterozygous POLE or POLD1 germline pathogenic variants (PVs) cause polymerase proofreading associated polyposis (PPAP), a constitutional polymerase proofreading deficiency that typically presents with colorectal adenomas and carcinomas in adulthood ...
Julia Meade, Katharina Wimmer, Matthias Schmuth   +2 more
exaly   +2 more sources

Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study [PDF]

Lancet Oncology, The
BACKGROUND Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe ...
Carol Durno, Rina Dvir, Per Nyman
exaly   +2 more sources

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Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Gastroenterology, 2023
Richard Gallon, Kristi Jones, Claudia Perne   +2 more
exaly  

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium

European Journal of Cancer, 2014
Aaron Pollett, David Malkin, Shay Ben-Shachar   +2 more
exaly  

Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome—A case report

Pediatric Dermatology, 2020
Ankan Gupta
exaly  

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome

Cancer Letters, 2017
Gerty Schreibelt, Harm Westdorp, I Jolanda M de Vries   +2 more
exaly  

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1

Clinical Genetics, 2017
Katharina Wimmer
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Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome

European Journal of Medical Genetics, 2016
Brigitte Schlegelberger, Tim Ripperger
exaly  

Predictive Genetic Testing in Children: Constitutional Mismatch Repair Deficiency Cancer Predisposing Syndrome

Journal of Genetic Counseling, 2014
Raj Ramesar, Karen Fieggen
exaly  

Constitutional Mismatch Repair Deficiency

2018
Chrystelle Colas, Katharina Wimmer, Laurence Brugieres   +2 more
exaly