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Page 1
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Nevado J, et al. Among authors: galan e. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.
Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.
Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F. Palomares-Bralo M, et al. Among authors: galan e. Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. Genet Med. 2017. PMID: 28640240 Free article. No abstract available.
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR. Chabchoub E, et al. Among authors: galan e. J Med Genet. 2007 Apr;44(4):250-6. doi: 10.1136/jmg.2006.045476. Epub 2006 Dec 15. J Med Genet. 2007. PMID: 17172463 Free PMC article.
Craniofacial dyssynostosis: description of the first four Spanish cases and review.
Bermejo E, Félix V, Lapunzina P, Galán E, Soler V, Delicado A, Pantoja A, Márquez MD, García M, Mora E, Cuevas L, Ureta A, López-Pajares I, Martínez-Frías ML. Bermejo E, et al. Among authors: galan e. Am J Med Genet A. 2005 Jan 1;132A(1):41-8. doi: 10.1002/ajmg.a.30380. Am J Med Genet A. 2005. PMID: 15551327 Review.
New findings in craniofacial dyssynostosis.
Bermejo E, Lapunzina P, Galán E, Félix V, Soler V, Martínez-Frias ML. Bermejo E, et al. Among authors: galan e. Am J Med Genet A. 2005 Apr 30;134(3):344-5. doi: 10.1002/ajmg.a.30632. Am J Med Genet A. 2005. PMID: 15723305 No abstract available.
108 results