Capo-Chichi JM - Search Results

1

Gastrointestinal Stromal Tumours (GISTs) with KRAS Mutation: A Rare but Important Subset of GISTs.

Mullen D, Vajpeyi R, Capo-Chichi JM, Nowak K, Wong N, Chetty R. Mullen D, et al. Among authors: capo chichi jm. Case Rep Gastrointest Med. 2023 Aug 24;2023:4248128. doi: 10.1155/2023/4248128. eCollection 2023. Case Rep Gastrointest Med. 2023. PMID: 37663588 Free PMC article.

2

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Mégarbané A. Mehawej C, et al. PLoS Genet. 2014 May 1;10(5):e1004311. doi: 10.1371/journal.pgen.1004311. eCollection 2014 May. PLoS Genet. 2014. PMID: 24786642 Free PMC article.

3

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium; Maranda B, Rouleau GA, Majewski J, Michaud JL. Srour M, et al. Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22425360 Free PMC article.

4

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

Capo-Chichi JM, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan FF, Michaud JL, Kibar Z, Mégarbané A. Capo-Chichi JM, et al. Eur J Med Genet. 2015 Dec;58(12):637-41. doi: 10.1016/j.ejmg.2015.11.005. Epub 2015 Nov 11. Eur J Med Genet. 2015. PMID: 26578240 Review.

5

Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation.

McCarthy AJ, Capo-Chichi JM, Spence T, Grenier S, Stockley T, Kamel-Reid S, Serra S, Sabatini P, Chetty R. McCarthy AJ, et al. J Pathol Clin Res. 2019 Apr;5(2):115-129. doi: 10.1002/cjp2.120. Epub 2018 Dec 19. J Pathol Clin Res. 2019. PMID: 30387329 Free PMC article.

6

Colorectal large-cell neuroendocrine carcinoma with lymphoid stroma: further evidence confirming a unique subtype associated with MLH1/PMS2 loss, BRAF mutation, Epstein-Barr virus negativity, and the possibility of a better prognosis.

Chetty R, Capo-Chichi JM, Serra S. Chetty R, et al. Histopathology. 2019 Aug;75(2):247-253. doi: 10.1111/his.13875. Epub 2019 Jul 2. Histopathology. 2019. PMID: 30990915

7

Unique MLH1 mutations in colonic adenomas in an obligate germline Lynch syndrome carrier.

Serra S, Capo-Chichi JM, McCarthy AJ, Sabatini P, Chetty R. Serra S, et al. J Clin Pathol. 2020 May;73(5):291-295. doi: 10.1136/jclinpath-2019-206234. Epub 2019 Oct 24. J Clin Pathol. 2020. PMID: 31649038

8

Mixed phenotype acute leukaemia with predominant myeloid blasts and a small subset of B/myeloid blasts shares the same mutation profile.

Capitano M, Capo-Chichi JM, Minden MD, Chang H. Capitano M, et al. Br J Haematol. 2020 Feb;188(4):e60-e63. doi: 10.1111/bjh.16325. Epub 2019 Dec 11. Br J Haematol. 2020. PMID: 31828776 Free article. No abstract available.

9

Prognostic impact of the adverse molecular-genetic profile on long-term outcomes following allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia.

Daher-Reyes G, Kim T, Novitzky-Basso I, Kim KH, Smith A, Stockley T, Capochichi JM, Al-Shaibani Z, Pasic I, Law A, Lam W, Michelis FV, Gerbitz A, Viswabandya A, Lipton J, Kumar R, Mattsson J, Schimmer A, McNamara C, Murphy T, Maze D, Gupta V, Sibai H, Chan S, Yee K, Minden M, Zhang Z, Schuh A, Kim DDH. Daher-Reyes G, et al. Bone Marrow Transplant. 2021 Aug;56(8):1908-1918. doi: 10.1038/s41409-021-01255-4. Epub 2021 Mar 25. Bone Marrow Transplant. 2021. PMID: 33767401

10

Molecular characterization of AML-MRC reveals TP53 mutation as an adverse prognostic factor irrespective of MRC-defining criteria, TP53 allelic state, or TP53 variant allele frequency.

Zhao D, Eladl E, Zarif M, Capo-Chichi JM, Schuh A, Atenafu E, Minden M, Chang H. Zhao D, et al. Cancer Med. 2023 Mar;12(6):6511-6522. doi: 10.1002/cam4.5421. Epub 2022 Nov 16. Cancer Med. 2023. PMID: 36394085 Free PMC article.

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