Búsqueda | Biblioteca Virtual en Salud

1.

Diagnostic per-lesion performance of a simulated gadoxetate disodium-enhanced abbreviated MRI protocol for hepatocellular carcinoma screening.

Tillman, B G; Gorman, J D; Hru, J M; Lee, M H; King, M C; Sirlin, C B; Marks, R M.

Clin Radiol ; 73(5): 485-493, 2018 05.

Artículo en Inglés | MEDLINE | ID: mdl-29246586

2.

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Basehore, M J; Michaelson-Cohen, R; Levy-Lahad, E; Sismani, C; Bird, L M; Friez, M J; Walsh, T; Abidi, F; Holloway, L; Skinner, C; McGee, S; Alexandrou, A; Syrrou, M; Patsalis, P C; Raymond, G; Wang, T; Schwartz, C E; King, M-C; Stevenson, R E.

Clin Genet ; 87(5): 461-6, 2015 May.

Artículo en Inglés | MEDLINE | ID: mdl-24805811

3.

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients.

Chasseuil, E; McGrath, J A; Seo, A; Balguerie, X; Bodak, N; Chasseuil, H; Denis-Musquer, M; Goldenberg, A; Goussot, R; Irvine, A D; Khumalo, N P; King, M C; Küry, S; Lipsker, D; Mallet, S; Mayosi, B M; Nanda, A; Puzenat, E; Salort-Campana, E; Sidbury, R; Shimamura, A; Bézieau, S; Mercier, S; Barbarot, S.

Br J Dermatol ; 181(4): 862-864, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-30972747

4.

Identifying individuals by sequencing mitochondrial DNA from teeth.

Ginther, C; Issel-Tarver, L; King, M C.

Nat Genet ; 2(2): 135-8, 1992 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-1303263

5.

Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q.

Stratton, M R; Ford, D; Neuhasen, S; Seal, S; Wooster, R; Friedman, L S; King, M C; Egilsson, V; Devilee, P; McManus, R.

Nat Genet ; 7(1): 103-7, 1994 May.

Artículo en Inglés | MEDLINE | ID: mdl-8075631

6.

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

Friedman, L S; Ostermeyer, E A; Szabo, C I; Dowd, P; Lynch, E D; Rowell, S E; King, M C.

Nat Genet ; 8(4): 399-404, 1994 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-7894493

7.

Growth retardation and tumour inhibition by BRCA1.

Holt, J T; Thompson, M E; Szabo, C; Robinson-Benion, C; Arteaga, C L; King, M C; Jensen, R A.

Nat Genet ; 12(3): 298-302, 1996 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-8589721

8.

BRCA1 is secreted and exhibits properties of a granin.

Jensen, R A; Thompson, M E; Jetton, T L; Szabo, C I; van der Meer, R; Helou, B; Tronick, S R; Page, D L; King, M C; Holt, J T.

Nat Genet ; 12(3): 303-8, 1996 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-8589722

9.

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

10.

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Yariz, K O; Walsh, T; Akay, H; Duman, D; Akkaynak, A C; King, M-C; Tekin, M.

Clin Genet ; 81(3): 289-93, 2012 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-21348867

11.

The effect of citalopram treatment on amyloid-ß precursor protein processing and oxidative stress in human hNSC-derived neurons.

Elsworthy, R J; Crowe, J A; King, M C; Dunleavy, C; Fisher, E; Ludlam, A; Parri, H R; Hill, E J; Aldred, S.

Transl Psychiatry ; 12(1): 285, 2022 07 18.

Artículo en Inglés | MEDLINE | ID: mdl-35851379

12.

A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.

Kedar, I; Walsh, L; Levi, G Reznick; Lieberman, S; Shtaya, A Abu; Nathan, S Naftaly; Lagovsky, I; Tomashov-Matar, R; Goldenberg, M; Basel-Salmon, L; Katz, L; Aleme, O; Peretz, T Yablonski; Hubert, A; Rothstein, D; Castellvi-Bel, S; Walsh, T; King, M C; Pritchard, C C; Levi, Z; Half, E; Laish, I; Goldberg, Y.

Fam Cancer ; 21(2): 181-188, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-33837488

13.

Genetics of schizophrenia in the South African Xhosa.

Gulsuner, S; Stein, D J; Susser, E S; Sibeko, G; Pretorius, A; Walsh, T; Majara, L; Mndini, M M; Mqulwana, S G; Ntola, O A; Casadei, S; Ngqengelele, L L; Korchina, V; van der Merwe, C; Malan, M; Fader, K M; Feng, M; Willoughby, E; Muzny, D; Baldinger, A; Andrews, H F; Gur, R C; Gibbs, R A; Zingela, Z; Nagdee, M; Ramesar, R S; King, M-C; McClellan, J M.

Science ; 367(6477): 569-573, 2020 01 31.

Artículo en Inglés | MEDLINE | ID: mdl-32001654

14.

Genomic views of human history.

Owens, K; King, M C.

Science ; 286(5439): 451-3, 1999 Oct 15.

Artículo en Inglés | MEDLINE | ID: mdl-10521333

15.

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.

Lynch, E D; Lee, M K; Morrow, J E; Welcsh, P L; León, P E; King, M C.

Science ; 278(5341): 1315-8, 1997 Nov 14.

Artículo en Inglés | MEDLINE | ID: mdl-9360932

16.

Allele increasing susceptibility to human breast cancer may be linked to the glutamate-pyruvate transaminase locus.

King, M C; Go, R C; Elston, R C; Lynch, H T; Petrakis, N L.

Science ; 208(4442): 406-8, 1980 Apr 25.

Artículo en Inglés | MEDLINE | ID: mdl-7367867

17.

Linkage of early-onset familial breast cancer to chromosome 17q21.

Hall, J M; Lee, M K; Newman, B; Morrow, J E; Anderson, L A; Huey, B; King, M C.

Science ; 250(4988): 1684-9, 1990 Dec 21.

Artículo en Inglés | MEDLINE | ID: mdl-2270482

18.

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

19.

Comparison of the Simplify D-dimer assay performed at the bedside with a laboratory-based quantitative D-dimer assay for the diagnosis of pulmonary embolism in a low prevalence emergency department population.

Runyon, M S; Beam, D M; King, M C; Lipford, E H; Kline, J A.

Emerg Med J ; 25(2): 70-5, 2008 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-18212136

20.

Breast cancer genes: how many, where and who are they?

King, M C.

Nat Genet ; 2(2): 89-90, 1992 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-1303268

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