Búsqueda | Biblioteca Virtual en Salud

1.

Modifying with mitochondria.

Avraham, K B.

Nat Genet ; 27(2): 136-7, 2001 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-11175774

2.

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells.

Avraham, K B; Hasson, T; Steel, K P; Kingsley, D M; Russell, L B; Mooseker, M S; Copeland, N G; Jenkins, N A.

Nat Genet ; 11(4): 369-75, 1995 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-7493015

3.

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

Hrabé de Angelis, M H; Flaswinkel, H; Fuchs, H; Rathkolb, B; Soewarto, D; Marschall, S; Heffner, S; Pargent, W; Wuensch, K; Jung, M; Reis, A; Richter, T; Alessandrini, F; Jakob, T; Fuchs, E; Kolb, H; Kremmer, E; Schaeble, K; Rollinski, B; Roscher, A; Peters, C; Meitinger, T; Strom, T; Steckler, T; Holsboer, F; Klopstock, T; Gekeler, F; Schindewolf, C; Jung, T; Avraham, K; Behrendt, H; Ring, J; Zimmer, A; Schughart, K; Pfeffer, K; Wolf, E; Balling, R.

Nat Genet ; 25(4): 444-7, 2000 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-10932192

4.

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Vahava, O; Morell, R; Lynch, E D; Weiss, S; Kagan, M E; Ahituv, N; Morrow, J E; Lee, M K; Skvorak, A B; Morton, C C; Blumenfeld, A; Frydman, M; Friedman, T B; King, M C; Avraham, K B.

Science ; 279(5358): 1950-4, 1998 Mar 20.

Artículo en Inglés | MEDLINE | ID: mdl-9506947

5.

Transgenic mice with expression of elevated levels of copper-zinc superoxide dismutase in the lungs are resistant to pulmonary oxygen toxicity.

White, C W; Avraham, K B; Shanley, P F; Groner, Y.

J Clin Invest ; 87(6): 2162-8, 1991 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-2040698

6.

Motors, channels and the sounds of silence.

Avraham, K B.

Nat Med ; 3(6): 608-9, 1997 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-9176483

7.

Hear come more genes!

Avraham, K B.

Nat Med ; 4(11): 1238-9, 1998 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-9809541

8.

Genomic structure of the human unconventional myosin VI gene.

Ahituv, N; Sobe, T; Robertson, N G; Morton, C C; Taggart, R T; Avraham, K B.

Gene ; 261(2): 269-75, 2000 Dec 31.

Artículo en Inglés | MEDLINE | ID: mdl-11167014

9.

Expression of manganese superoxide dismutase is not altered in transgenic mice with elevated level of copper-zinc superoxide dismutase.

White, C W; Nguyen, D H; Suzuki, K; Taniguchi, N; Rusakow, L S; Avraham, K B; Groner, Y.

Free Radic Biol Med ; 15(6): 629-36, 1993 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-8138189

10.

Inherited connexin mutations associated with hearing loss.

Avraham, K B.

Cell Commun Adhes ; 8(4-6): 419-24, 2001.

Artículo en Inglés | MEDLINE | ID: mdl-12064629

11.

Unconventional myosins and the genetics of hearing loss.

Friedman, T B; Sellers, J R; Avraham, K B.

Am J Med Genet ; 89(3): 147-57, 1999 Sep 24.

Artículo en Inglés | MEDLINE | ID: mdl-10704189

12.

Premature aging changes in neuromuscular junctions of transgenic mice with an extra human CuZnSOD gene: a model for tongue pathology in Down's syndrome.

Yarom, R; Sapoznikov, D; Havivi, Y; Avraham, K B; Schickler, M; Groner, Y.

J Neurol Sci ; 88(1-3): 41-53, 1988 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-2976083

13.

Cell damage by excess CuZnSOD and Down's syndrome.

Groner, Y; Elroy-Stein, O; Avraham, K B; Schickler, M; Knobler, H; Minc-Golomb, D; Bar-Peled, O; Yarom, R; Rotshenker, S.

Biomed Pharmacother ; 48(5-6): 231-40, 1994.

Artículo en Inglés | MEDLINE | ID: mdl-7999984

14.

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.

Frydman, M; Vreugde, S; Nageris, B I; Weiss, S; Vahava, O; Avraham, K B.

Arch Otolaryngol Head Neck Surg ; 126(5): 633-7, 2000 May.

Artículo en Inglés | MEDLINE | ID: mdl-10807331

15.

Auditory and vestibular mouse mutants: models for human deafness.

Ahituv, N; Avraham, K B.

J Basic Clin Physiol Pharmacol ; 11(3): 181-91, 2000.

Artículo en Inglés | MEDLINE | ID: mdl-11041382

16.

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, F J; Rodríguez-Ballesteros, M; Alvarez, A; Hutchin, T; Leonardi, E; de Oliveira, C A; Azaiez, H; Brownstein, Z; Avenarius, M R; Marlin, S; Pandya, A; Shahin, H; Siemering, K R; Weil, D; Wuyts, W; Aguirre, L A; Martín, Y; Moreno-Pelayo, M A; Villamar, M; Avraham, K B; Dahl, H-H M; Kanaan, M; Nance, W E; Petit, C; Smith, R J H; Van Camp, G; Sartorato, E L; Murgia, A; Moreno, F; del Castillo, I.

J Med Genet ; 42(7): 588-94, 2005 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-15994881

17.

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

RamShankar, M; Girirajan, S; Dagan, O; Ravi Shankar, H M; Jalvi, R; Rangasayee, R; Avraham, K B; Anand, A.

J Med Genet ; 40(5): e68, 2003 May.

Artículo en Inglés | MEDLINE | ID: mdl-12746422

18.

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

Ness, S L; Ben-Yosef, T; Bar-Lev, A; Madeo, A C; Brewer, C C; Avraham, K B; Kornreich, R; Desnick, R J; Willner, J P; Friedman, T B; Griffith, A J.

J Med Genet ; 40(10): 767-72, 2003 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-14569126

19.

Anti-apoptotic factor z-Val-Ala-Asp-fluoromethylketone promotes the survival of cochlear hair cells in a mouse model for human deafness.

Atar, O; Avraham, K B.

Neuroscience ; 168(3): 851-7, 2010 Jul 14.

Artículo en Inglés | MEDLINE | ID: mdl-20394804

20.

High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim.

Sobe, T; Erlich, P; Berry, A; Korostichevsky, M; Vreugde, S; Avraham, K B; Bonné-Tamir, B; Shohat, M.

Am J Med Genet ; 86(5): 499-500, 1999 Oct 29.

Artículo en Inglés | MEDLINE | ID: mdl-10508996

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Modifying with mitochondria.

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells.

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Transgenic mice with expression of elevated levels of copper-zinc superoxide dismutase in the lungs are resistant to pulmonary oxygen toxicity.

Motors, channels and the sounds of silence.

Hear come more genes!

Genomic structure of the human unconventional myosin VI gene.

Expression of manganese superoxide dismutase is not altered in transgenic mice with elevated level of copper-zinc superoxide dismutase.

Inherited connexin mutations associated with hearing loss.

Unconventional myosins and the genetics of hearing loss.

Premature aging changes in neuromuscular junctions of transgenic mice with an extra human CuZnSOD gene: a model for tongue pathology in Down's syndrome.

Cell damage by excess CuZnSOD and Down's syndrome.

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.

Auditory and vestibular mouse mutants: models for human deafness.

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.

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

Anti-apoptotic factor z-Val-Ala-Asp-fluoromethylketone promotes the survival of cochlear hair cells in a mouse model for human deafness.

High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim.