AELIP

Asociación AELIP

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Publicaciones

Encarnacion Guillen-Navarro, Sofia Sanchez-Iglesias, Rosario Domingo-Jimenez, Berta Victoria, Alejandro Ruiz-Riquelme, Alberto Rabano, Lourdes Loidi, Andres Beiras, Blanca Gonzalez-Mendez, Adriana Ramos, Vanesa Lopez-Gonzalez, Maria Juliana Ballesta-Martinez, Miguel Garrido-Pumar, Pablo Aguiar, Alvaro Ruibal , Jesus R. Requena, David Araujo-Vilar. A new seipin-associated neurodegenerative syndrome. Journal of Medical Genetics 2013


Plaisancié Julie, Bailleul-Forestier Isabelle, Gaston Véronique, Vaysse Fréderic, Lacombe Didier,  Holder Muriel, Abramowicz Marc, Coubes Christine, Plessis Ghislaine, Olivier-Faivre Laurence, Demeer Bénédicte, Vincent-Delorme Catherine, Dollfus Hélène, Sigaudy Sabine, Guillén-Navarro Encarna, Verloes Alain, Jonveaux Philippe, Martin-Coignard Dominique, Bonneau Dominique, Bieth Eric, Calvas Patrick, Chassaing Nicolas1,19*. Mutations in WNT10A are frequently involved in Oligodontia associated with minor signs of Ectodermal Dysplasia. Am J Med Genet  2013 Feb 7. doi: 10.1002/ajmg.a.35747. [Epub ahead of print]

Pfarr N, Fischer C, Ehlken N, Becker-Grünig T, López-González V, Gorenflo M, Hager A, Hinderhofer K, Miera O, Nagel C, Schranz D, Grünig E. Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. Respir Res. 2013 Jan 9;14:3. doi: 10.1186/1465-9921-14-3.

Carcavilla A, Santomé JL, Pinto I, Sánchez-Pozo J, Guillén-Navarro E, Martín-Frías M, Lapunzina P, Ezquieta B. LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. Rev Esp Cardiol. 2013 Jan 10. doi:pii: S0300-8932(12)00601-X. 10.1016/j.recesp.2012.09.017. [Epub ahead of print]

Pajares S, Alcalde C, Couce ML, Del Toro M, González-Meneses A, Guillén E, Pineda M, Pintos G, Gort L, Coll MJ. Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain. Mol Genet Metab. 2012 Jun;106 (2):196-201. Epub 2012 Mar 24.

Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanovi 263 R, Bokenkamp A, Bonneau D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkçi MS, Frange P, Fründ S, Fryssira H, Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Saraiva JM, Semerci CN, Shoemaker L, Staji 263 NA, Stein A, Taha D, Wand D, Zonana J, Lücke T, Boerkoel CF 3rd.  Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous displasia?. Orphanet J Rare Dis. 2012 Sep 22;7(1):70. [Epub ahead of print]

Pérez Poyato MS, Milá Recansens M, Ferrer Abizanda I, Domingo Jiménez R, López Lafuente A, Cusí Sánchez V, Rodriguez-Revenga L, Coll Rosell MJ, Gort L, Póo Argüelles P, Pineda Marfa M. Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series. Gene. 2012 May 15;499(2):297-302. 

Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL. Mutations in PLOD2 cause autosomal recessive connective tissue disorders within the bruck syndrome-osteogenesis imperfecta phenotypic spectrum. Hum Mutat. 2012 Jun 11. doi: 10.1002/humu.22133. [Epub ahead of print]

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. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. Rev Esp Cardiol. 2012 May;65 (5):447-55. Epub 2012 Mar 31.

Vera-Carbonell A, Moya-Quiles MR, Ballesta-Martínez M, López-González V, Bafallíu JA, Guillén-Navarro E, López-Expósito I. Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. Gene. 2012 Apr 15;497(2):292-7. Epub 2012 Feb 9.

Scarpa, M., Almássy, Z., Beck, M., Bodamer, O., Bruce, I.A., De Meirleir, L., Guffon, N., Guillén-Navarro, E., Hensman, P.,Jones, S., Kamin, W., Kampmann, C., Lampe, C., Lavery, C.A., Leão Teles, E., Link, B., Lund, A.M., Malm, G., Pitz, S.,Rothera, M., Stewart, C., Tylki-Szymaska, A., Van Der Ploeg, A., Walker, R., Zeman, J., Wraith, J.E. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. (2011) Orphanet Journal of Rare Diseases, 6 (1), art. no. 72 

Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R, Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R, Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M. Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.  J Inherit Metab Dis. 2011 Oct;34(5):1083-93.

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