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Page 1
De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer APM, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. Tomas-Roca L, et al. Among authors: perez aytes a. Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199. Nat Commun. 2015. PMID: 26068067 Free PMC article.
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. McGregor L, et al. Among authors: perez aytes a. Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Nat Genet. 2003. PMID: 12766769
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ. Jadeja S, et al. Among authors: perez aytes a. Nat Genet. 2005 May;37(5):520-5. doi: 10.1038/ng1549. Epub 2005 Apr 17. Nat Genet. 2005. PMID: 15838507
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Kaiser FJ, et al. Among authors: perez aytes a. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403048 Free PMC article.
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L. Ezquieta B, et al. Among authors: perez aytes a. Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31. Rev Esp Cardiol (Engl Ed). 2012. PMID: 22465605 English, Spanish.
46 results