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Anales de Otorrinolaringología Mexicana

2002, Number 4

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Otorrinolaringología 2002; 47 (4)

Genes, proteins and mutations involved in the fisiopatología of hearing

Huesca HF, Domínguez-Aburto LJE

Language: Spanish
References: 17
Page: 17-21
PDF size: 51.07 Kb.


ABSTRACT

No abstract


REFERENCES

  1. Kimberling WJ, (1999) Hereditary deafness. Am J of med genetics (semin med. Genet) 89:121-122

  2. Resendes BL, Williamson RE, and C. Morton (2001) At the Speed of sound: Gene Discovery in the Auditory system. Am. J. Hum. Gent. 69:923_935, 2001

  3. Rabionet R, Gasparini P, Estivill X. (2002) Connexins and deafness Homepage. World wide web URL: http//www.iro.es/cx26deaf.html

  4. del Castillo I, Villamar M, 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 2002 Jan 24;346(4):243-9

  5. Van Camp G and R. Smith,(2002) The Hereditary Hearing loss Homepage.

  6. Menéndes I, I del Castillo I, B. Carrillo, M Villamar, D M Ponce de León, D Uriarte y F Moreno (2001) Mutaciones del gen de la conexina 26 (GJB2) en familias cubanas con sorderas no sindrómicas autosómicas recesivas Rev Cubana Invest Biomed 2001;20(3):167-72

  7. Cohn ES and PM Kelley (1999) Clinical Phenotipe and Mutations in connexin 26 (DFNB!/GJB) the most common causa of childhood hearing Loss. Am J of med Genetics (Sem Med genet 89:130-136 1999)

  8. Ramírez Dueñas ML (2001) Sordera de causa Genetica. In Genética clínica. Ed. Guizar- Vazquez J. Manual Moderno, México:545-562.

  9. Moreno F. (2002) Segunda Mutación más frecuente de sordera congénita profunda. http://www.sordosaxenfeld.com/notici61.htm

  10. Lattig M C y. Marta Lucía Tamayo F.,(2001) Avancesenla genetica de las Sorderas. http://www.encolombia.com/pediatria_avances_genetica.htm

  11. Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD (1997).Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997 Jun;16(2):188-90

  12. Leon PE, Raventos H, Lynch E, Morrow J, King MC. 1992 The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci U S A 1992 Jun 1;89(11):5181-4

  13. Salamanca GF (1998). Tras las huellas del silencio: los genes que originan la sordera. Gacc Méd Vol 134 No. 4 Jul-agost-1998

  14. OMIM (2003) Online Mendelian Inheritance in Man, Mckusick http://www.ncbi.nlm.nih.gov/OMIM

  15. Willems PJ (2000) Genetic causes of hearing loss. The New England J of Med vol 342(15):1101-1109. April 2000

  16. Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, et al (2002) Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.Nat Genet 2002 Mar;30(3):277-84

  17. Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Et al (2001) Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 2001 Feb 1;10(3):195-200




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