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Page 1
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE. Barca-Tierno V, et al. Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712857 Free PMC article.
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.
Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE. Aza-Carmona M, et al. Among authors: barca tierno v. PLoS One. 2014 Jan 8;9(1):e83104. doi: 10.1371/journal.pone.0083104. eCollection 2014. PLoS One. 2014. PMID: 24421874 Free PMC article.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Møller P, Seppälä T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, Bernstein I, Engel C, Aretz S, Nielsen M, Capella G, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Valle AD, Heinimann K, Half E, Lopez-Koestner F, Alvarez-Valenzuela K, Scott RJ, Katz L, Laish I, Vainer E, Vaccaro CA, Carraro DM, Gluck N, Abu-Freha N, Stakelum A, Kennelly R, Winter D, Rossi BM, Greenblatt M, Bohorquez M, Sheth H, Tibiletti MG, Lino-Silva LS, Horisberger K, Portenkirchner C, Nascimento I, Rossi NT, da Silva LA, Thomas H, Zaránd A, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepisto A, Peltomäki P, Therkildsen C, Lindberg LJ, Thorlacius-Ussing O, von Knebel Doeberitz M, Loeffler M, Rahner N, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, de Vargas AF, Latchford A, Gerdes AM, Backman AS, Guillén-Ponce C, Snyder C, Lautrup CK, Amor D, Palmero E, Stoffel E, Duijkers F, Hall MJ, Hampel H, Williams H, Okkels H, Lubiński J, Reece J, Ngeow J, Guillem JG, Arnold J, Wadt K, Monahan K, Senter L, Rasmussen LJ, van Hest LP, Ricciardiello L, Kohonen-Corish MRJ, Ligtenberg MJL, Southey M, Aronson M, Zahary… See abstract for full author list ➔ Møller P, et al. Among authors: barca tierno v. Hered Cancer Clin Pract. 2022 Oct 1;20(1):36. doi: 10.1186/s13053-022-00241-1. Hered Cancer Clin Pract. 2022. PMID: 36182917 Free PMC article.
Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?
Vida-Navas E, Barca-Tierno V, López-Gómez V, Salazar MT, Moreno-Pelayo MA, Guillén-Ponce C. Vida-Navas E, et al. Among authors: barca tierno v. Genes (Basel). 2024 Sep 15;15(9):1209. doi: 10.3390/genes15091209. Genes (Basel). 2024. PMID: 39336800 Free PMC article.
Genetic testing for primary aldosteronism in SPAIN: Results from the SPAIN-ALDO Registry and review of the literature.
Araujo-Castro M, Ruiz-Sánchez JG, Gonzalvo C, Lamas C, Parra Ramírez P, Martín Marcos-Rojas P, Paja M, Robles Lázaro C, Michalapou T, Tous M, González M, Recio Córdova JM, Casteras A, Fernández-Álvarez P, Barca Tierno V, Mulatero P. Araujo-Castro M, et al. Among authors: barca tierno v. J Clin Endocrinol Metab. 2024 Jul 26:dgae523. doi: 10.1210/clinem/dgae523. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39058909
Local recurrence and metastatic disease in pheochromocytomas and sympathetic paragangliomas.
Araujo-Castro M, García Sanz I, Mínguez Ojeda C, Hanzu F, Mora M, Vicente A, Blanco Carrera C, de Miguel Novoa P, López García MDC, Lamas C, Manjón-Miguélez L, Del Castillo Tous M, Rodríguez de Vera P, Barahona San Millán R, Recasens M, Tomé Fernández-Ladreda M, Valdés N, Gracia Gimeno P, Robles Lazaro C, Michalopoulou T, Álvarez Escolá C, García Centeno R, Barca-Tierno V, Herrera-Martínez AD, Calatayud M. Araujo-Castro M, et al. Among authors: barca tierno v. Front Endocrinol (Lausanne). 2023 Dec 7;14:1279828. doi: 10.3389/fendo.2023.1279828. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38155946 Free PMC article.