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Analisis-de-la-delecion-del-gen-GJB6-en-pacientes-heterocigotos-para-el-gen-GJB2-con-hipoacusia-neurosensorial-no-sindromica-en-una-muestra-depoblacion-mexicana

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R Thomas Taggart, Ignacio del Castillo. GJB2: 
The spectrum on Deafness- Causing Allele Variants and Their 
Phenotype. Human Mutation 2004;24:305-311. 
 
48. Ignacio del Castillo, Manuela Villamar, Miguel A. Moreno Pelayo, 
Francisco J. del Castillo, Araceli Álvarez, Dolores Telleria. A Deletion 
Involving the Connexin 30 Gene in Nonsyndromic Hearing impairment. 
N Engl J Med 2002; 346: 4. 
 
49. Ignacio del Castillo, Miguel A. Moreno Pelayo, Francisco J. del 
Castillo, Zippora Brownstein, Sandrine Marlin, Quint Adina. Prevalence 
and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the 
DFNB1 Locus in Hearing-impaired Subjects: a Multicenter Study. Am. 
J. Hum. Genet. 2003;73:1452-1458. 
 
50. Cynthia C. Morton Ph.D and Walter E. Nance M.D. Newborn 
Hearing Screening A Silent Revolution. N Engl J Med 2006;354:20. 
 
51. del Castillo IV, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, 
Telleria 
D, Menendez I, Moreno F (2002) A deletion involving the connexin 30 
gene in nonsyndromic hearing impairment. N Engl J Med 346:243–
249. 
 
52. F. J. del Castillo, M Rodríguez Ballesteros, A Álvarez Hutchin, E 
Leonardi, C A de Oliveira, H Azaiez, Z Brownstein. 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. J Med Genet 2005;42:588-594. 
 
53. René Utrera, Vanessa Ridaura, Yuryanni Rodríguez, Maria J. 
Rojas, Leomig Mago, Simón Angeli And Oswaldo Henríquez. Detection 
of the 35delG/GJB2 and del(GJB6-D13S1830 )Mutations in 
Venezuelan Patients with Autosomal Recessive Nonsyndromic 
Hearing Loss GENETIC TESTING Volume 11, Number 4, 2007 
58 
 
 
54. Juan Rodriguez-Paris, Iris Schrijver. The digenic hypothesis 
unraveled: The GJB6 del(GJB6-D13S1830) mutation causes allele-
specific loss of GJB2 expression in cis. Biochemical and Biophysical 
Research Communications 389 (2009) 354–359 
 
 
 55. Padma G., Ramchander P. V., Nandur U. V. and Padma T. 2009 
GJB2 and GJB6 gene mutations found in Indian probands with 
congenital hearing impairment. J. Genet. 88, 267–272. 
 
 
56. Melissa de Freitas Cordeiro-Silva 1, Andressa Barbosa 2, Marília 
Santiago 3, Mariana Provetti 4, Eliete Rabbi- Bortolini Prevalence of 
35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with 
non-syndromic deafness from a population of Espírito Santo - Brazil 
Braz J Otorhinolaryngol. 2010; 76(4):428-32. 
 
	Portada 
	Índice
	I. Siglas y Abreviaturas
	II. Resumen
	III. Antecedentes
	IV. Planteamiento del Problema y Justificación
	V. Objetivo VI. Hipótesis VII. Diseño del Estudio
	VIII. Materiales y Métodos
	IX. Aspectos Éticos y de Bioseguridad
	X. Análisis Estadístico XI. Resultados
	XII. Discusión
	XIII. Conclusiones
	XIV. Referencias
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