Terms: = Bone cancer AND MSH6, GTBP, P52701, 2956, ENSG00000116062, HSAP, HNPCC5 AND Diagnosis
8 results:
1. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB; Aronson M; Fernandez NR; Chang Y; Levine A; Liu ZA; Negm L; Edwards M; Bianchi V; Stengs L; Chung J; Al-Battashi A; Reschke A; Lion A; Ahmad A; Lassaletta A; Reddy AT; Al-Darraji AF; Shah AC; Van Damme A; Bendel A; Rashid A; Margol AS; Kelly BL; Pencheva B; Heald B; Lemieux-Anglin B; Crooks B; Koschmann C; Gilpin C; Porter CC; Gass D; Samuel D; Ziegler DS; Blumenthal DT; Kuo DJ; Hamideh D; Basel D; Khuong-Quang DA; Stearns D; Opocher E; Carceller F; Baris Feldman H; Toledano H; Winer I; Scheers I; Fedorakova I; Su JM; Vengoechea J; Sterba J; Knipstein J; Hansford JR; Gonzales-Santos JR; Bhatia K; Bielamowicz KJ; Minhas K; Nichols KE; Cole KA; Penney L; Hjort MA; Sabel M; Gil-da-Costa MJ; Murray MJ; Miller M; Blundell ML; Massimino M; Al-Hussaini M; Al-Jadiry MF; Comito MA; Osborn M; Link MP; Zapotocky M; Ghalibafian M; Shaheen N; Mushtaq N; Waespe N; Hijiya N; Fuentes-Bolanos N; Ahmad O; Chamdine O; Roy P; Pichurin PN; Nyman P; Pearlman R; Auer RC; Sukumaran RK; Kebudi R; Dvir R; Raphael R; Elhasid R; McGee RB; Chami R; Noss R; Tanaka R; Raskin S; Sen S; Lindhorst S; Perreault S; Caspi S; Riaz S; Constantini S; Albert S; Chaleff S; Bielack S; Chiaravalli S; Cramer SL; Roy S; Cahn S; Penna S; Hamid SA; Ghafoor T; Imam U; Larouche V; Magimairajan Issai V; Foulkes WD; Lee YY; Nathan PC; Maruvka YE; Greer MC; Durno C; Shlien A; Ertl-Wagner B; Villani A; Malkin D; Hawkins C; Bouffet E; Das A; Tabori U
Lancet Oncol; 2024 May; 25(5):668-682. PubMed ID: 38552658
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2. Constitutional Mismatch Repair Deficiency Syndrome as a Cause of Numerous Malignancies in a Teenage Patient-A Case Report.
Samborska M; Galli D; Achkar R; Thambyrajah S; Derwich K
J Pediatr Hematol Oncol; 2023 Oct; 45(7):e917-e920. PubMed ID: 37526375
[TBL] [Abstract] [Full Text] [Related]
3. Recurrent Undifferentiated Carcinoma of the Sella in a Patient with Lynch Syndrome.
Voisin MR; Almeida JP; Perez-Ordonez B; Zadeh G
World Neurosurg; 2019 Dec; 132():219-222. PubMed ID: 31491579
[TBL] [Abstract] [Full Text] [Related]
4. Analysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome.
Pollinger TH; Kieliszak CR; Logemann N; Gratrix ML
Skinmed; 2017; 15(4):259-264. PubMed ID: 28859734
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5. [Muir-Torre syndrome and Turcot syndrome].
Velter C; Caussade P; Fricker JP; Cribier B
Ann Dermatol Venereol; 2017; 144(8-9):525-529. PubMed ID: 28256262
[TBL] [Abstract] [Full Text] [Related]
6. MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation.
Nguyen A; Bougeard G; Koob M; Chenard MP; Schneider A; Maugard C; Entz-Werle N
Fam Cancer; 2016 Oct; 15(4):571-7. PubMed ID: 27017609
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7. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
Kansal R; Li X; Shen J; Samuel D; Laningham F; Lee H; Panigrahi GB; Shuen A; Kantarci S; Dorrani N; Reiss J; Shintaku P; Deignan JL; Strom SP; Pearson CE; Vilain E; Grody WW
Genes Chromosomes Cancer; 2016 Feb; 55(2):131-42. PubMed ID: 26542077
[TBL] [Abstract] [Full Text] [Related]
8. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic msh6 mutations.
Scott RH; Mansour S; Pritchard-Jones K; Kumar D; MacSweeney F; Rahman N
Nat Clin Pract Oncol; 2007 Feb; 4(2):130-4. PubMed ID: 17259933
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