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1.

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Verpy, E; Masmoudi, S; Zwaenepoel, I; Leibovici, M; Hutchin, T P; Del Castillo, I; Nouaille, S; Blanchard, S; Lainé, S; Popot, J L; Moreno, F; Mueller, R F; Petit, C.

Nat Genet ; 29(3): 345-9, 2001 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-11687802

2.

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

McGuirt, W T; Prasad, S D; Griffith, A J; Kunst, H P; Green, G E; Shpargel, K B; Runge, C; Huybrechts, C; Mueller, R F; Lynch, E; King, M C; Brunner, H G; Cremers, C W; Takanosu, M; Li, S W; Arita, M; Mayne, R; Prockop, D J; Van Camp, G; Smith, R J.

Nat Genet ; 23(4): 413-9, 1999 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-10581026

3.

Planetary probe: origin of atmosphere of venus.

Mueller, R F.

Science ; 163(3873): 1322-4, 1969 Mar 21.

Artículo en Inglés | MEDLINE | ID: mdl-17807811

4.

Traces of her workings.

Duyk, G; Gastier, J M; Mueller, R F.

Nat Genet ; 2(1): 5-8, 1992 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-1303249

5.

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment.

Hutchin, T P; Thompson, K R; Parker, M; Newton, V; Bitner-Glindzicz, M; Mueller, R F.

J Med Genet ; 38(4): 229-31, 2001 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-11283203

6.

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.

Hutchin, T P; Parker, M J; Young, I D; Davis, A C; Pulleyn, L J; Deeble, J; Lench, N J; Markham, A F; Mueller, R F.

J Med Genet ; 37(9): 692-4, 2000 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-10978361

7.

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

Houseman, M J; Ellis, L A; Pagnamenta, A; Di, W L; Rickard, S; Osborn, A H; Dahl, H H; Taylor, G R; Bitner-Glindzicz, M; Reardon, W; Mueller, R F; Kelsell, D P.

J Med Genet ; 38(1): 20-5, 2001 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-11134236

8.

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

Van Laer, L; Coucke, P; Mueller, R F; Caethoven, G; Flothmann, K; Prasad, S D; Chamberlin, G P; Houseman, M; Taylor, G R; Van de Heyning, C M; Fransen, E; Rowland, J; Cucci, R A; Smith, R J; Van Camp, G.

J Med Genet ; 38(8): 515-8, 2001 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-11483639

9.

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

Hutchin, T P; Lench, N J; Arbuzova, S; Markham, A F; Mueller, R F.

Eur J Hum Genet ; 9(1): 56-8, 2001 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-11175301

10.

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.

McHale, D P; Jackson, A P; Levene, M I; Corry, P; Woods, C G; Lench, N J; Mueller, R F; Markham, A F.

Eur J Hum Genet ; 8(4): 267-72, 2000 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-10854109

11.

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

Hutchin, T P; Navarro-Coy, N C; Van Camp, G; Tiranti, V; Zeviani, M; Schuelke, M; Jaksch, M; Newton, V; Mueller, R F.

Eur J Hum Genet ; 9(5): 385-7, 2001 May.

Artículo en Inglés | MEDLINE | ID: mdl-11378827

12.

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

Pulleyn, L J; Jackson, A P; Roberts, E; Carridice, A; Muxworthy, C; Houseman, M; Al-Gazali, L I; Lench, N J; Markham, A F; Mueller, R F.

Eur J Hum Genet ; 8(12): 991-3, 2000 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-11175289

13.

Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.

Kumar, D; Duggan, M B; Mueller, R F; Karbani, G.

Am J Med Genet ; 70(2): 107-13, 1997 May 16.

Artículo en Inglés | MEDLINE | ID: mdl-9128926

14.

X-linked dominant chondrodysplasia punctata: a case report and family studies.

Mueller, R F; Crowle, P M; Jones, R A; Davison, B C.

Am J Med Genet ; 20(1): 137-44, 1985 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-4038582

15.

Six cases of 7p deletion: clinical, cytogenetic, and molecular studies.

Chotai, K A; Brueton, L A; van Herwerden, L; Garrett, C; Hinkel, G K; Schinzel, A; Mueller, R F; Speleman, F; Winter, R M.

Am J Med Genet ; 51(3): 270-6, 1994 Jul 01.

Artículo en Inglés | MEDLINE | ID: mdl-7521123

16.

A rapid PCR-based method to distinguish between fetal and maternal cells in chorionic biopsies using microsatellite polymorphisms.

Noble, J S; Taylor, G R; Stewart, A D; Mueller, R F; Murday, V A.

Dis Markers ; 9(6): 301-6, 1991.

Artículo en Inglés | MEDLINE | ID: mdl-1823308

17.

Biological unsoundness of modern medical practice.

Mueller, R F.

Science ; 165(3900): 1313, 1969 Sep 26.

Artículo en Inglés | MEDLINE | ID: mdl-17817869

18.

Energy analysis.

Mueller, R F.

Science ; 192(4234): 11-2, 1976 Apr 02.

Artículo en Inglés | MEDLINE | ID: mdl-17734937

19.

Atmospheric trace gases: linear relation between concentration and time.

Mueller, R F; Kretz, R.

Science ; 218(4572): 591-2, 1982 Nov 05.

Artículo en Inglés | MEDLINE | ID: mdl-17842063

20.

Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.

Chen, A H; Mueller, R F; Prasad, S D; Greinwald, J H; Manaligod, J; Muilenburg, A C; Verhoeven, K; Van Camp, G; Smith, R J.

Arch Otolaryngol Head Neck Surg ; 124(1): 20-4, 1998 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-9440775

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Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

Planetary probe: origin of atmosphere of venus.

Traces of her workings.

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment.

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.

X-linked dominant chondrodysplasia punctata: a case report and family studies.

Six cases of 7p deletion: clinical, cytogenetic, and molecular studies.

A rapid PCR-based method to distinguish between fetal and maternal cells in chorionic biopsies using microsatellite polymorphisms.

Biological unsoundness of modern medical practice.

Energy analysis.

Atmospheric trace gases: linear relation between concentration and time.

Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.