184 related articles for article (PubMed ID: 27329736)
21. Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.
Ponti G; Manfredini M; Tomasi A; Pellacani G
Gene; 2016 Sep; 589(2):127-32. PubMed ID: 26143115
[TBL] [Abstract][Full Text] [Related]
22. Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome-A case report.
Gupta A; George R; Aboobacker FN; ThamaraiSelvi B; Priscilla AJ
Pediatr Dermatol; 2020 Nov; 37(6):1139-1141. PubMed ID: 32876971
[TBL] [Abstract][Full Text] [Related]
23. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.
De Rosa M; Fasano C; Panariello L; Scarano MI; Belli G; Iannelli A; Ciciliano F; Izzo P
Oncogene; 2000 Mar; 19(13):1719-23. PubMed ID: 10763829
[TBL] [Abstract][Full Text] [Related]
24. Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.
Chmara M; Wernstedt A; Wasag B; Peeters H; Renard M; Beert E; Brems H; Giner T; Bieber I; Hamm H; Sciot R; Wimmer K; Legius E
Genes Chromosomes Cancer; 2013 Jul; 52(7):656-64. PubMed ID: 23629955
[TBL] [Abstract][Full Text] [Related]
25. 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.
Chhabda S; Sudhakar S; Mankad K; Jorgensen M; Carceller F; Jacques TS; Merve A; Aizpurua M; Chalker J; Garimberti E; D'Arco F
Childs Nerv Syst; 2021 Jul; 37(7):2375-2379. PubMed ID: 33247381
[TBL] [Abstract][Full Text] [Related]
26. Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.
Ripperger T; Schlegelberger B
Eur J Med Genet; 2016 Mar; 59(3):133-42. PubMed ID: 26743104
[TBL] [Abstract][Full Text] [Related]
27. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II.
Jeske YW; So A; Kelemen L; Sukor N; Willys C; Bulmer B; Gordon RD; Duffy D; Stowasser M
Clin Exp Pharmacol Physiol; 2008 Apr; 35(4):380-5. PubMed ID: 18307725
[TBL] [Abstract][Full Text] [Related]
28. Mechanisms of structural chromosomal rearrangement formation.
Burssed B; Zamariolli M; Bellucco FT; Melaragno MI
Mol Cytogenet; 2022 Jun; 15(1):23. PubMed ID: 35701783
[TBL] [Abstract][Full Text] [Related]
29. Germline Biallelic Mismatch Repair Deficiency in Childhood Glioblastoma and Implications for Clinical Management.
Mishra AK; Achari RB; Zameer L; Achari G; Gehani A; Roy P; Sudhaman S; Bianchi V; Edwards M; Sen S; Sukumaran RK; Bhattacharyya A; Tabori U; Das A
Neurol India; 2022; 70(2):772-774. PubMed ID: 35532657
[TBL] [Abstract][Full Text] [Related]
30. Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.
Gallon R; Phelps R; Betts L; Hayes C; Masic D; Irving JAE; McAnulty C; Saha V; Vora A; Wimmer K; Motwani J; Macartney C; Burn J; Jackson MS; Moorman AV; Santibanez-Koref M
Leuk Lymphoma; 2023 Jan; 64(1):217-220. PubMed ID: 36272172
[No Abstract] [Full Text] [Related]
31. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
Wimmer K; Kratz CP; Vasen HF; Caron O; Colas C; Entz-Werle N; Gerdes AM; Goldberg Y; Ilencikova D; Muleris M; Duval A; Lavoine N; Ruiz-Ponte C; Slavc I; Burkhardt B; Brugieres L;
J Med Genet; 2014 Jun; 51(6):355-65. PubMed ID: 24737826
[TBL] [Abstract][Full Text] [Related]
32. Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
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
J Med Genet; 2024 Jan; 61(2):158-162. PubMed ID: 37775264
[TBL] [Abstract][Full Text] [Related]
33. Aberrant X chromosomal rearrangement through multi-step template switching during sister chromatid formation in a patient with severe hemophilia A.
Tokoro M; Tamura S; Suzuki N; Kakihara M; Hattori Y; Odaira K; Suzuki S; Takagi A; Katsumi A; Hayakawa F; Okamoto S; Suzuki A; Kanematsu T; Matsushita T; Kojima T
Mol Genet Genomic Med; 2020 Sep; 8(9):e1390. PubMed ID: 32627361
[TBL] [Abstract][Full Text] [Related]
34. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
Osborne LR; Herbrick JA; Greavette T; Heng HH; Tsui LC; Scherer SW
Genomics; 1997 Oct; 45(2):402-6. PubMed ID: 9344666
[TBL] [Abstract][Full Text] [Related]
35. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
Auclair J; Leroux D; Desseigne F; Lasset C; Saurin JC; Joly MO; Pinson S; Xu XL; Montmain G; Ruano E; Navarro C; Puisieux A; Wang Q
Hum Mutat; 2007 Nov; 28(11):1084-90. PubMed ID: 17557300
[TBL] [Abstract][Full Text] [Related]
36. Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.
Walter AW; Ennis S; Best H; Vaughn CP; Swensen JJ; Openshaw A; Gripp KW
Pediatr Blood Cancer; 2013 Nov; 60(11):E135-6. PubMed ID: 23729388
[TBL] [Abstract][Full Text] [Related]
37. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
Krüger S; Kinzel M; Walldorf C; Gottschling S; Bier A; Tinschert S; von Stackelberg A; Henn W; Görgens H; Boue S; Kölble K; Büttner R; Schackert HK
Eur J Hum Genet; 2008 Jan; 16(1):62-72. PubMed ID: 17851451
[TBL] [Abstract][Full Text] [Related]
38. Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T).
Citak EC; Sagcan F; Gundugan BD; Bozdogan ST; Yilmaz EB; Avci E; Balci Y; Karabulut YY
J Pediatr Hematol Oncol; 2021 Mar; 43(2):e198-e202. PubMed ID: 31815888
[TBL] [Abstract][Full Text] [Related]
39. 10-Year-Old Pakistani Boy With Multiple Malignancies: Loss Of Pms2-Constitutional Mismatch Repair Deficiency.
Rehman P; Wali RM
J Ayub Med Coll Abbottabad; 2022; 34(Suppl 1)(3):S727-S729. PubMed ID: 36414603
[TBL] [Abstract][Full Text] [Related]
40. Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
Durno CA; Sherman PM; Aronson M; Malkin D; Hawkins C; Bakry D; Bouffet E; Gallinger S; Pollett A; Campbell B; Tabori U;
Eur J Cancer; 2015 May; 51(8):977-83. PubMed ID: 25883011
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]