220 related articles for article (PubMed ID: 28503822)
1. Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
Suerink M; Potjer TP; Versluijs AB; Ten Broeke SW; Tops CM; Wimmer K; Nielsen M
Clin Genet; 2018 Jan; 93(1):134-137. PubMed ID: 28503822
[TBL] [Abstract][Full Text] [Related]
2. Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Baris HN; Barnes-Kedar I; Toledano H; Halpern M; Hershkovitz D; Lossos A; Lerer I; Peretz T; Kariv R; Cohen S; Half EE; Magal N; Drasinover V; Wimmer K; Goldberg Y; Bercovich D; Levi Z
Pediatr Blood Cancer; 2016 Mar; 63(3):418-27. PubMed ID: 26544533
[TBL] [Abstract][Full Text] [Related]
3. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Suerink M; Ripperger T; Messiaen L; Menko FH; Bourdeaut F; Colas C; Jongmans M; Goldberg Y; Nielsen M; Muleris M; van Kouwen M; Slavc I; Kratz C; Vasen HF; Brugiѐres L; Legius E; Wimmer K
J Med Genet; 2019 Feb; 56(2):53-62. PubMed ID: 30415209
[TBL] [Abstract][Full Text] [Related]
4. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
Wimmer K; Rosenbaum T; Messiaen L
Clin Genet; 2017 Apr; 91(4):507-519. PubMed ID: 27779754
[TBL] [Abstract][Full Text] [Related]
5. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
Bakry D; Aronson M; Durno C; Rimawi H; Farah R; Alharbi QK; Alharbi M; Shamvil A; Ben-Shachar S; Mistry M; Constantini S; Dvir R; Qaddoumi I; Gallinger S; Lerner-Ellis J; Pollett A; Stephens D; Kelies S; Chao E; Malkin D; Bouffet E; Hawkins C; Tabori U
Eur J Cancer; 2014 Mar; 50(5):987-96. PubMed ID: 24440087
[TBL] [Abstract][Full Text] [Related]
6. Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia JA; Gallon R; Chen Y; Koch J; Keller M; Oberhuber K; Gomes A; Zschocke J; Burn J; Jackson MS; Santibanez-Koref M; Messiaen L; Wimmer K
Genet Med; 2020 Dec; 22(12):2081-2088. PubMed ID: 32773772
[TBL] [Abstract][Full Text] [Related]
7. Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
Shuen AY; Lanni S; Panigrahi GB; Edwards M; Yu L; Campbell BB; Mandel A; Zhang C; Zhukova N; Alharbi M; Bernstein M; Bowers DC; Carroll S; Cole KA; Constantini S; Crooks B; Dvir R; Farah R; Hijiya N; George B; Laetsch TW; Larouche V; Lindhorst S; Luiten RC; Magimairajan V; Mason G; Mason W; Mordechai O; Mushtaq N; Nicholas G; Oren M; Palma L; Pedroza LA; Ramdas J; Samuel D; Wolfe Schneider K; Seeley A; Semotiuk K; Shamvil A; Sumerauer D; Toledano H; Tomboc P; Wierman M; Van Damme A; Lee YY; Zapotocky M; Bouffet E; Durno C; Aronson M; Gallinger S; Foulkes WD; Malkin D; Tabori U; Pearson CE
J Clin Oncol; 2019 Feb; 37(6):461-470. PubMed ID: 30608896
[TBL] [Abstract][Full Text] [Related]
8. Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature.
Özyörük D; Cabı EÜ; Taçyıldız N; Pınarlı F; Erdoğan AO; Hanalioğlu Ş; Erdem AY; Demir AM
Turk J Pediatr; 2021; 63(5):893-902. PubMed ID: 34738371
[TBL] [Abstract][Full Text] [Related]
9. Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.
Mir A; AlMudhry M; AlOtaibi W; AlHazmi R; AlBaradie R; AlHarbi Q; Bashir S; Chamdine O; Housawi Y
J Pediatr Hematol Oncol; 2023 Jul; 45(5):e613-e620. PubMed ID: 36897649
[TBL] [Abstract][Full Text] [Related]
10. Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD).
Ramchander NC; Ryan NA; Crosbie EJ; Evans DG
BMC Med Genet; 2017 Apr; 18(1):40. PubMed ID: 28381238
[TBL] [Abstract][Full Text] [Related]
11. Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.
AlHarbi M; Ali Mobark N; AlMubarak L; Aljelaify R; AlSaeed M; Almutairi A; Alqubaishi F; Hussain ME; Balbaid AAO; Said Marie A; AlSubaie L; AlShieban S; alTassan N; Ramkissoon SH; Abedalthagafi M
Oncologist; 2018 Dec; 23(12):1401-1406. PubMed ID: 30104292
[TBL] [Abstract][Full Text] [Related]
12. Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.
Onishi S; Yamasaki F; Kuraoka K; Taguchi A; Takayasu T; Akagi K; Hinoi T
BMC Med Genomics; 2023 Jan; 16(1):6. PubMed ID: 36647049
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
Leenen CH; Geurts-Giele WR; Dubbink HJ; Reddingius R; van den Ouweland AM; Tops CM; van de Klift HM; Kuipers EJ; van Leerdam ME; Dinjens WN; Wagner A
Clin Genet; 2011 Dec; 80(6):558-65. PubMed ID: 21204794
[TBL] [Abstract][Full Text] [Related]
15. Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.
Westdorp H; Kolders S; Hoogerbrugge N; de Vries IJM; Jongmans MCJ; Schreibelt G
Cancer Lett; 2017 Sep; 403():159-164. PubMed ID: 28645564
[TBL] [Abstract][Full Text] [Related]
16. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.
Kratz CP; Holter S; Etzler J; Lauten M; Pollett A; Niemeyer CM; Gallinger S; Wimmer K
J Med Genet; 2009 Jun; 46(6):418-20. PubMed ID: 19293170
[TBL] [Abstract][Full Text] [Related]
17. Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.
Urganci N; Genc DB; Kose G; Onal Z; Vidin OO
Pediatrics; 2015 Oct; 136(4):e1047-50. PubMed ID: 26391938
[TBL] [Abstract][Full Text] [Related]
18. [Constitutional MMR deficiency: Genetic bases and clinical implications].
Buecher B; Le Mentec M; Doz F; Bourdeaut F; Gauthier-Villars M; Stoppa-Lyonnet D; Colas C
Bull Cancer; 2019 Feb; 106(2):162-172. PubMed ID: 30551794
[TBL] [Abstract][Full Text] [Related]
19. Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report.
Tan S; Wu X; Wang A; Ying L
BMC Med Genomics; 2021 Jul; 14(1):184. PubMed ID: 34247610
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
