Oriola J - Search Results

1

A novel germline variant in RET gene resulting in an additional cysteine in a family with familial medullary thyroid carcinoma.

Oriola J, Sanchez A, Paniello B, de la Bellacasa JP, Biarnés J. Oriola J, et al. Fam Cancer. 2021 Jul;20(3):253-256. doi: 10.1007/s10689-020-00214-0. Epub 2020 Oct 21. Fam Cancer. 2021. PMID: 33084974

2

Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.

Oriola J, Páramo C, Halperin I, García-Mayor RV, Rivera-Fillat F. Oriola J, et al. Am J Med Genet. 1998 Jul 7;78(3):271-3. doi: 10.1002/(sici)1096-8628(19980707)78:3<271::aid-ajmg13>3.0.co;2-c. Am J Med Genet. 1998. PMID: 9677065

3

The finding of a somaticdeletion in RET exon 15 clarified the sporadic nature of amedullary thyroid carcinoma suspected to be familial.

Oriola J, Halperin I, Rivera-Fillat F, Donis-Keller H. Oriola J, et al. J Endocrinol Invest. 2002 Jan;25(1):25-31. doi: 10.1007/BF03343957. J Endocrinol Invest. 2002. PMID: 11883863

4

V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers.

Lecube A, Hernandez C, Oriola J, Galard R, Gémar E, Mesa J, Simó R. Lecube A, et al. Among authors: oriola j. Surgery. 2002 May;131(5):509-14. doi: 10.1067/msy.2002.123006. Surgery. 2002. PMID: 12019403

5

Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene.

Recasens M, Oriola J, Fernández-Real JM, Roig J, Rodríguez-Hermosa JI, Font JA, Galofre P, López-Bermejo A, Ricart W. Recasens M, et al. Among authors: oriola j. Clin Endocrinol (Oxf). 2007 Jul;67(1):29-33. doi: 10.1111/j.1365-2265.2007.02830.x. Epub 2007 Apr 27. Clin Endocrinol (Oxf). 2007. PMID: 17466010

6

Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe.

Oriola J, Biarnes J, Hernandez C, Simó R. Oriola J, et al. Clin Genet. 2013 Apr;83(4):384-7. doi: 10.1111/j.1399-0004.2012.01921.x. Epub 2012 Jul 23. Clin Genet. 2013. PMID: 22734615

7

Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer.

Orois A, Badenas C, Reverter JL, López V, Potrony M, Mora M, Halperin I, Oriola J. Orois A, et al. Among authors: oriola j. Horm Cancer. 2020 Apr;11(2):111-116. doi: 10.1007/s12672-020-00383-5. Epub 2020 Mar 14. Horm Cancer. 2020. PMID: 32172474 Free PMC article.

8

Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer.

Oriola J, Díez O, Mora M, Halperin I, Martínez S, Masas M, Tenes A, Bernal A, Duran R, Orois A. Oriola J, et al. J Med Genet. 2024 Sep 24;61(10):939-942. doi: 10.1136/jmg-2024-110185. J Med Genet. 2024. PMID: 39103207

9

Genetic analysis of seven Mediterranean families with multiple endocrine neoplasia type 2A.

Oriola J, Hernandez C, Simo R, Barcelo A, Casamitjana R, Vilardell E, Rivera-Fillat F. Oriola J, et al. Clin Endocrinol (Oxf). 1996 Feb;44(2):207-12. doi: 10.1046/j.1365-2265.1996.652473.x. Clin Endocrinol (Oxf). 1996. PMID: 8849576

10

[Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder].

Olivares Muñoz M, Julià Masip MV, Oriola J, Martorell Sampol L, Parareda Sallés A, Ribó Cruz JM. Olivares Muñoz M, et al. Among authors: oriola j. Cir Pediatr. 2012 Apr;25(2):87-90. Cir Pediatr. 2012. PMID: 23113396 Spanish.

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