Results 121 to 130 of about 1,020 (131)

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Journal of Medical Genetics, 2022
Rose B McGee, William Foulkes, Heather Hampel   +2 more
exaly  

Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development—a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis

Child's Nervous System, 2020
Felice D'Arco, Sahil Chhabda, Fernando Carceller   +2 more
exaly  

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

Cancers, 2019
Ceres Fernández-Rozadilla, Anaël Lopez-Novo, Katharina Wimmer   +2 more
exaly  

Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

Familial Cancer, 2020
Zeinab Ghorbanoghli, Manon Suerink, Katharina Wimmer   +2 more
exaly  

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer

Familial Cancer, 2018
Lisa Bush, Uri Tábori, Melyssa Aronson   +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  

Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium

Neuro-Oncology Advances, 2019
Christine Devalck, Franck Bourdeaut, Katharina Wimmer   +2 more
exaly  

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome

Familial Cancer, 2018
Hai Yan, Muhammad Tariq, Zafar Ali
exaly  

EPID-09. CMMRD (CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY) ASSOCIATED-BRAIN TUMORS: REPORT FROM THE EUROPEAN C4CMMRD CONSORTIUM

Neuro-Oncology, 2018
Christine Devalck, Irène Slavc, Yael Goldberg   +2 more
exaly  

Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome

Neuro-Oncology Advances
Franck Bourdeaut, Laurence Brugieres, Etienne Rouleau   +2 more
exaly