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Year Number of Results
1995 1
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13 results

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Page 1
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
[Multiple cavernomatosis: a review and presentation of a familial case].
Lafuente-Hidalgo M, García Besteiro M, Acedo Alonso Y, López Aríztegui MA, Navajas Gutierrez A. Lafuente-Hidalgo M, et al. Among authors: lopez ariztegui ma. An Pediatr (Barc). 2014 Dec;81(6):e52-4. doi: 10.1016/j.anpedi.2014.03.002. Epub 2014 May 27. An Pediatr (Barc). 2014. PMID: 24874524 Free article. Review. Spanish. No abstract available.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
Plaja A, Lloveras E, Martinez-Bouzas C, Barreña B, Del Campo M, Fernández A, Herrero M, Barranco L, Palau N, López-Aríztegui MA, Català V, Tejada MI. Plaja A, et al. Among authors: lopez ariztegui ma. Am J Med Genet A. 2013 Sep;161A(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25. Am J Med Genet A. 2013. PMID: 23894094
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI. Maortua H, et al. Among authors: lopez ariztegui ma. J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. Epub 2013 Jun 26. J Mol Diagn. 2013. PMID: 23810759 Free article.
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I. Aguirre LA, et al. Among authors: lopez ariztegui ma. Neuromuscul Disord. 2008 Dec;18(12):979-81. doi: 10.1016/j.nmd.2008.09.009. Epub 2008 Oct 25. Neuromuscul Disord. 2008. PMID: 18952432
Rat neonatal intestinal wall-free graft.
Losada J, Juarros B, Lopez Ariztegui MA, Fernandez Val JF, Sarria R. Losada J, et al. Among authors: lopez ariztegui ma. Anat Histol Embryol. 2002 Dec;31(6):378-82. doi: 10.1046/j.1439-0264.2002.00429.x. Anat Histol Embryol. 2002. PMID: 12693760
13 results