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Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N. Gayden T, et al. Among authors: valera et. Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. Nat Genet. 2018. PMID: 30374066
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas.
Valera ET, McConechy MK, Gayden T, Rivera B, Jones DTW, Wittmann A, Han H, Bareke E, Nikbakht H, Mikael L, Queiroz RG, Suazo VK, Phi JH, Kim SK, Park SH, Fukaya R, Yum MS, Ko TS, de Oliveira RS, Machado HR, Brassesco MS, do Santos AC, Simão GN, Ramalho LNZ, Neder L, Scrideli CA, Tone LG, Majewski J, Jabado N. Valera ET, et al. Acta Neuropathol. 2018 Oct;136(4):657-660. doi: 10.1007/s00401-018-1898-8. Epub 2018 Aug 24. Acta Neuropathol. 2018. PMID: 30143858 Free PMC article. No abstract available.
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC, Gayden T, Bajic A, Harraz OF, Pratt J, Nikbakht H, Bareke E, Diniz MG, Castro WH, St-Onge P, Sinnett D, Han H, Rivera B, Mikael LG, De Jay N, Kleinman CL, Valera ET, Bassenden AV, Berghuis AM, Majewski J, Nelson MT, Gomez RS, Jabado N. Gomes CC, et al. Among authors: valera et. Nat Commun. 2018 Nov 1;9(1):4572. doi: 10.1038/s41467-018-06690-4. Nat Commun. 2018. PMID: 30385747 Free PMC article.
Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N. Gayden T, et al. Among authors: valera et. Nat Genet. 2019 Jan;51(1):196. doi: 10.1038/s41588-018-0304-8. Nat Genet. 2019. PMID: 30429576
Comment on: Consensus recommendations from the EXPeRT/PARTNER groups for the diagnosis and therapy of sex cord stromal tumors in children and adolescents.
de Faria FW, Valera ET, Macedo CRPD, Azevedo EF, Vieira AGS, Martins GE, da Cunha Júnior AG, Francisco Dos Reis MB, Foulkes WD, Lopes LF. de Faria FW, et al. Among authors: valera et. Pediatr Blood Cancer. 2022 Sep;69(9):e29650. doi: 10.1002/pbc.29650. Epub 2022 Mar 26. Pediatr Blood Cancer. 2022. PMID: 35338687 No abstract available.
Chromosomal heterogeneity and instability characterize pediatric medulloblastoma cell lines and affect neoplastic phenotype.
Castro-Gamero AM, Borges KS, Lira RC, Andrade AF, Fedatto PF, Cruzeiro GA, Silva RB, Fontes AM, Valera ET, Bobola M, Scrideli CA, Tone LG. Castro-Gamero AM, et al. Among authors: valera et. Cytotechnology. 2013 Oct;65(5):871-85. doi: 10.1007/s10616-012-9529-z. Epub 2013 Jan 17. Cytotechnology. 2013. PMID: 23325114 Free PMC article.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L. Ivanovski I, et al. Among authors: valera et. Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300384 Free article.
122 results