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X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.
Hardelin JP, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, et al. Hardelin JP, et al. Among authors: del castillo i. Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8190-4. doi: 10.1073/pnas.89.17.8190. Proc Natl Acad Sci U S A. 1992. PMID: 1518845 Free PMC article.
DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.
Moreno-Pelayo MA, Modamio-Høybjør S, Mencía A, del Castillo I, Chardenoux S, Fernández-Burriel M, Lathrop M, Petit C, Moreno F. Moreno-Pelayo MA, et al. Among authors: del castillo i. J Med Genet. 2003 Nov;40(11):832-6. doi: 10.1136/jmg.40.11.832. J Med Genet. 2003. PMID: 14627674 Free PMC article. No abstract available.
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci.
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Morais D, Lathrop M, Petit C, Moreno F. Modamio-Høybjør S, et al. Among authors: del castillo i. J Med Genet. 2004 Feb;41(2):e14. doi: 10.1136/jmg.2003.012500. J Med Genet. 2004. PMID: 14757864 Free PMC article. No abstract available.
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. del Castillo FJ, et al. Among authors: del castillo i. J Med Genet. 2005 Jul;42(7):588-94. doi: 10.1136/jmg.2004.028324. J Med Genet. 2005. PMID: 15994881 Free PMC article. No abstract available.
112 results