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195 results

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Page 1
The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.
García M, Barrio R, García-Lavandeira M, Garcia-Rendueles AR, Escudero A, Díaz-Rodríguez E, Gorbenko Del Blanco D, Fernández A, de Rijke YB, Vallespín E, Nevado J, Lapunzina P, Matre V, Hinkle PM, Hokken-Koelega AC, de Miguel MP, Cameselle-Teijeiro JM, Nistal M, Alvarez CV, Moreno JC. García M, et al. Among authors: nevado j. Sci Rep. 2017 Mar 6;7:42937. doi: 10.1038/srep42937. Sci Rep. 2017. PMID: 28262687 Free PMC article.
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P. Fernández L, et al. Among authors: nevado j. BMC Med Genet. 2009 Jun 2;10:48. doi: 10.1186/1471-2350-10-48. BMC Med Genet. 2009. PMID: 19490635 Free PMC article. Review.
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P. Romanelli V, et al. Among authors: nevado j. Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248736 Free PMC article.
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P. Palomares M, et al. Among authors: nevado j. Am J Hum Genet. 2011 Aug 12;89(2):295-301. doi: 10.1016/j.ajhg.2011.06.012. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802062 Free PMC article.
Uveal melanoma in a 19-month-old child.
Grabowska A, Abelarias J, Peralta J, Asencio M, García-Cabezas MÁ, Escabias-Del Pozo C, Nevado J, Vallespin E, Solera J, Pilar PM, Sastre-Urgellés A. Grabowska A, et al. Among authors: nevado j. J AAPOS. 2011 Dec;15(6):606-8. doi: 10.1016/j.jaapos.2011.07.018. J AAPOS. 2011. PMID: 22153412
Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.
Fernández L, Nevado J, De Torres ML, Mansilla E, Vallespín E, García-Miñaúr S, Palomo R, Deirós L, Cabrera M, Galo ED, Lapunzina P, Delicado A. Fernández L, et al. Among authors: nevado j. Am J Med Genet A. 2012 Nov;158A(11):2963-8. doi: 10.1002/ajmg.a.35595. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987734 No abstract available.
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D. Sarrión P, et al. Among authors: nevado j. Sci Rep. 2013;3:1346. doi: 10.1038/srep01346. Sci Rep. 2013. PMID: 23439489 Free PMC article.
Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.
Vallespín E, Palomares Bralo M, Mori MÁ, Martín R, García-Miñaúr S, Fernández L, de Torres ML, García-Santiago F, Mansilla E, Santos F, M-Montaño VE, Crespo MC, Martín S, Martínez-Glez V, Delicado A, Lapunzina P, Nevado J. Vallespín E, et al. Among authors: nevado j. Am J Med Genet A. 2013 Aug;161A(8):1950-60. doi: 10.1002/ajmg.a.35960. Epub 2013 Jun 24. Am J Med Genet A. 2013. PMID: 23798500
New microdeletion and microduplication syndromes: A comprehensive review.
Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, García-Santiago F, Mansilla E, Fernández L, de Torres ML, Riegel M, Lapunzina P. Nevado J, et al. Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9. doi: 10.1590/s1415-47572014000200007. Genet Mol Biol. 2014. PMID: 24764755 Free PMC article. Review.
195 results