Terms: = Colorectal cancer AND NF1, NFNS, 4763, ENSG00000196712, P21359 AND Diagnosis
16 results:
1. 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]
2. 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]
3. Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: A report of two cases with novel genetic findings.
Sukhanova M; Obeidin F; Streich L; Alexiev BA
Genes Chromosomes Cancer; 2022 Nov; 61(11):653-661. PubMed ID: 35655404
[TBL] [Abstract] [Full Text] [Related]
4. Challenges in the diagnosis of neurofibromatosis type 1 (nf1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic nf1 gene variants.
Kehrer-Sawatzki H; Cooper DN
Hum Genet; 2022 Feb; 141(2):177-191. PubMed ID: 34928431
[TBL] [Abstract] [Full Text] [Related]
5. Impact of Perioperative Thromboembolic Complications on Future Long-term Risk of Venous Thromboembolism among Medicare Beneficiaries Undergoing Complex Gastrointestinal Surgery.
Paro A; Dalmacy D; Hyer JM; Tsilimigras DI; Diaz A; Pawlik TM
J Gastrointest Surg; 2021 Dec; 25(12):3064-3073. PubMed ID: 34282525
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6. Accumulated genetic mutations leading to accelerated initiation and progression of colorectal cancer in a patient with Gardner syndrome: A case report.
Gu X; Li X; Xu J; Yang J; Li H; Wu Q; Qian J
Medicine (Baltimore); 2021 Apr; 100(13):e25247. PubMed ID: 33787608
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7. Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R; Castillejo MI; Dámaso E; Díez-Obrero V; Garrigos N; Molina T; Codoñer-Alejos A; Segura Á; Sánchez-Heras AB; Castillejo A; Soto JL
Cancer Commun (Lond); 2021 Mar; 41(3):218-228. PubMed ID: 33630411
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8.
Lou H; Zhai C; Gong L; Pan H; Pan H; Zhang Y; Yang M; Hu Z
J Int Med Res; 2020 Aug; 48(8):300060519896435. PubMed ID: 32814491
[TBL] [Abstract] [Full Text] [Related]
9. 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]
10. 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]
11. Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: A case report and review of the literature.
Xie R; Fu KI; Chen SM; Tuo BG; Wu HC
World J Gastroenterol; 2018 Sep; 24(33):3806-3812. PubMed ID: 30197486
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12. 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]
13. [Solitary Neurofibroma of the Sigmoid Colon Presenting as a Subepithelial Tumor Successfully Removed by Endoscopic Resection].
Lee WJ; Park SM; Kim BW; Kim JS; Ji JS; Choi H
Korean J Gastroenterol; 2016 Jul; 68(1):45-8. PubMed ID: 27443624
[TBL] [Abstract] [Full Text] [Related]
14. 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]
15. Solitary ganglioneuromatosis of the descending colon, presenting as giant retroperitoneal tumour.
Mateş I; Iosif C; Dinu D; Constantinoiu S
Chirurgia (Bucur); 2013; 108(4):584-8. PubMed ID: 23958108
[TBL] [Abstract] [Full Text] [Related]
16. Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.
Jasperson KW; Samowitz WS; Burt RW
Clin Genet; 2011 Oct; 80(4):394-7. PubMed ID: 21039432
[TBL] [Abstract] [Full Text] [Related]
