Oriola J - Search Results

1

The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report.

Villabona C, Oriola J, Serrano T, Guerrero-Pérez F, Valdés N, Chiara M, Robledo M. Villabona C, et al. Among authors: oriola j. Am J Med Genet A. 2021 Dec;185(12):3872-3876. doi: 10.1002/ajmg.a.62444. Epub 2021 Jul 27. Am J Med Genet A. 2021. PMID: 34313384

2

Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET.

Kasprzak L, Nolet S, Gaboury L, Pavia C, Villabona C, Rivera-Fillat F, Oriola J, Foulkes WD. Kasprzak L, et al. Among authors: oriola j. J Med Genet. 2001 Nov;38(11):784-7. doi: 10.1136/jmg.38.11.784. J Med Genet. 2001. PMID: 11732489 Free PMC article. No abstract available.

3

Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1α expression in parasympathetic versus sympathetic paragangliomas.

Bernardo-Castiñeira C, Sáenz-de-Santa-María I, Valdés N, Astudillo A, Balbín M, Pitiot AS, Jiménez-Fonseca P, Scola B, Tena I, Molina-Garrido MJ, Sevilla MA, Beristein E, Forga L, Villabona C, Oriola J, Halperin I, Suarez C, Chiara MD. Bernardo-Castiñeira C, et al. Among authors: oriola j. Head Neck. 2019 Jan;41(1):79-91. doi: 10.1002/hed.25386. Epub 2018 Dec 14. Head Neck. 2019. PMID: 30549360

4

MEN1-associated primary hyperparathyroidism in the Spanish Registry: clinical characterictics and surgical outcomes.

Lamas C, Navarro E, Casterás A, Portillo P, Alcázar V, Calatayud M, Álvarez-Escolá C, Sastre J, Boix E, Forga L, Vicente A, Oriola J, Mesa J, Valdés N. Lamas C, et al. Among authors: oriola j. Endocr Connect. 2019 Oct;8(10):1416-1424. doi: 10.1530/EC-19-0321. Endocr Connect. 2019. PMID: 31557724 Free PMC article.

5

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

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

Medullary thyroid carcinoma as manifestation of the loss of heterozygosity in a patient with MEN1.

Aranda Velazquez GB, Porta MM, Martínez D, Oriola J, Halperin Rabinovich I. Aranda Velazquez GB, et al. Among authors: oriola j. Endocrinol Nutr. 2016 Aug-Sep;63(7):371-3. doi: 10.1016/j.endonu.2016.03.005. Epub 2016 May 27. Endocrinol Nutr. 2016. PMID: 27246634 English, Spanish. No abstract available.

8

NOP53 as A Candidate Modifier Locus for Familial Non-Medullary Thyroid Cancer.

Orois A, Gara SK, Mora M, Halperin I, Martínez S, Alfayate R, Kebebew E, Oriola J. Orois A, et al. Among authors: oriola j. Genes (Basel). 2019 Nov 7;10(11):899. doi: 10.3390/genes10110899. Genes (Basel). 2019. PMID: 31703244 Free PMC article.

9

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

10

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

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