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589 results

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Page 1
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study; Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N. Ragge N, et al. Among authors: ayuso c. Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4. Hum Genet. 2019. PMID: 29974297 Free article.
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. Astuto LM, et al. Among authors: ayuso c. Am J Hum Genet. 2002 Aug;71(2):262-75. doi: 10.1086/341558. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075507 Free PMC article.
Gene symbol: RP2.
Villaverde-Montero C, García-Hoyos M, Giménez-Pardo A, Trujillo-Tiebas MJ, Baiget M, Ayuso C. Villaverde-Montero C, et al. Among authors: ayuso c. Hum Genet. 2007 Apr;121(2):289. Hum Genet. 2007. PMID: 17598203 No abstract available.
Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile.
Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ayuso c. Hum Genet. 2008 Oct;124(3):307-8. Hum Genet. 2008. PMID: 18846643 No abstract available.
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW. Nikopoulos K, et al. Among authors: ayuso c. Am J Hum Genet. 2010 Feb 12;86(2):240-7. doi: 10.1016/j.ajhg.2009.12.016. Am J Hum Genet. 2010. PMID: 20159111 Free PMC article.
Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.
Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez-Pardo A, Trujillo-Tiebas MJ, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ayuso c. Hum Genet. 2008 Jun;123(5):551. Hum Genet. 2008. PMID: 20960647 No abstract available.
589 results