Results 121 to 130 of about 1,537,452 (154)

Constitutional Mismatch Repair Deficiency, the Most Aggressive Cancer Predisposition Syndrome : Clinical Presentation, Surveillance, and Management. [PDF]

J Korean Neurosurg Soc
Kang E, Suh JK, Kim SD.
europepmc   +1 more source

Constitutional mismatch repair deficiency: Clues from the clinic, proof in the genes

Pediatric Hematology Oncology Journal
Jonathan David Livingstone, Gnanamani Senguttuvan, N.S. Hema, Leenu Lizbeth Joseph, Rikki R. John, Leni G. Mathew   +5 more
doaj   +1 more source

Colorectal cancer in a 13-year-old with constitutional mismatch repair deficiency and <i>MUTYH</i> heterozygosity. [PDF]

JPGN Rep
Cohan CJ, Putzeys CC, Pruniski B, Tran P.   +3 more
europepmc   +1 more source

Constitutional mismatch repair deficiency: a case on a commonly misinterpreted mutation in colon cancer. [PDF]

Clin J Gastroenterol
C K, H E, E T, M A, A C, A P, J S.
europepmc   +1 more source

Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome. [PDF]

AJNR Am J Neuroradiol, 2020
Kerpel A, Yalon M, Soudack M, Chiang J, Gajjar A, Nichols KE, Patay Z, Shrot S, Hoffmann C.   +8 more
europepmc   +1 more source

Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome. [PDF]

Neurooncol Adv
Guerrini-Rousseau L, Merlevede J, Denizeau P, Andreiuolo F, Varlet P, Puget S, Beccaria K, Blauwblomme T, Cabaret O, Hamzaoui N, Bourdeaut F, Faure-Conter C, Muleris M, Colas C, Adam de Beaumais T, Castel D, Rouleau E, Brugières L, Grill J, Debily MA.   +19 more
europepmc   +1 more source

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management. [PDF]

Eur J Hum Genet
Colas C, Guerrini-Rousseau L, Suerink M, Gallon R, Kratz CP, Ayuso É, ERN GENTURIS CMMRD Guideline Group, Brugières L, Wimmer K.   +8 more
europepmc   +1 more source

Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency. [PDF]

J Med Genet
Guerrini-Rousseau L, Pasmant E, Muleris M, Abbou S, Adam-De-Beaumais T, Brugieres L, Cabaret O, Colas C, Cotteret S, Decq P, Dufour C, Guillerm E, Rouleau E, Varlet P, Zili S, Vidaud D, Grill J.   +16 more
europepmc   +1 more source

Clinical Insights and Potential Benefits of Stem Cell Transplantation for Constitutional Mismatch Repair Deficiency: A Case Report of Two Siblings. [PDF]

Cureus
Mandryk M, Owoc-Lempach J, Cecot J, Zarzecki K, Piasta M, Wolska-Kolmus M, Marschollek P, Mielcarek-Siedziuk M, Dembowska-Bagińska B, Kałwak K.   +9 more
europepmc   +1 more source