Búsqueda | Biblioteca Virtual en Salud

1.

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

Krenn, M; Tomschik, M; Rath, J; Cetin, H; Grisold, A; Zulehner, G; Milenkovic, I; Stogmann, E; Zimprich, A; Strom, T M; Meitinger, T; Wagner, M; Zimprich, F.

Eur J Neurol ; 27(1): 51-61, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31407473

2.

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Umair, M; Eckstein, G; Rudolph, G; Strom, T; Graf, E; Hendig, D; Hoover, J; Alanay, J; Meitinger, T; Schmidt, H; Ahmad, W.

Clin Genet ; 93(4): 913-918, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29136277

3.

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Braunisch, M C; Gallwitz, H; Abicht, A; Diebold, I; Holinski-Feder, E; Van Maldergem, L; Lammens, M; Kovács-Nagy, R; Alhaddad, B; Strom, T M; Meitinger, T; Senderek, J; Rudnik-Schöneborn, S; Haack, T B.

Clin Genet ; 93(2): 255-265, 2018 02.

Artículo en Inglés | MEDLINE | ID: mdl-28653766

4.

A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.

Allebrandt, K V; Amin, N; Müller-Myhsok, B; Esko, T; Teder-Laving, M; Azevedo, R V D M; Hayward, C; van Mill, J; Vogelzangs, N; Green, E W; Melville, S A; Lichtner, P; Wichmann, H-E; Oostra, B A; Janssens, A C J W; Campbell, H; Wilson, J F; Hicks, A A; Pramstaller, P P; Dogas, Z; Rudan, I; Merrow, M; Penninx, B; Kyriacou, C P; Metspalu, A; van Duijn, C M; Meitinger, T; Roenneberg, T.

Mol Psychiatry ; 18(1): 122-32, 2013 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-22105623

5.

Adolescent growth: genes, hormones and the peer group. Proceedings of the 20th Aschauer Soiree, held at Glücksburg castle, Germany, 15th to 17th November 2013.

Hermanussen, M; Meitinger, T; Veldhuis, J D; Low, M J; Pfäffle, R; Staub, K; Panczak, R; Groth, D; Brabec, M; von Salisch, M; Loh, C P A; Tassenaar, V; Scheffler, C; Mumm, R; Godina, E; Lehmann, A; Tutkuviene, J; Gervickaite, S; Nierop, A F M; Holmgren, A; Assmann, C; van Buuren, S; Koziel, S; Zadzinska, E; Varela-Silva, I; Vignerová, J; Salama, E; El-Shabrawi, M; Huiji, A; Satake, T; Bogin, B.

Pediatr Endocrinol Rev ; 11(3): 341-53, 2014 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-24716402

6.

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.

Meitinger, T; Meindl, A; Bork, P; Rost, B; Sander, C; Haasemann, M; Murken, J.

Nat Genet ; 5(4): 376-80, 1993 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-8298646

7.

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Vervoort, R; Lennon, A; Bird, A C; Tulloch, B; Axton, R; Miano, M G; Meindl, A; Meitinger, T; Ciccodicola, A; Wright, A F.

Nat Genet ; 25(4): 462-6, 2000 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-10932196

8.

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

Meindl, A; Berger, W; Meitinger, T; van de Pol, D; Achatz, H; Dörner, C; Haasemann, M; Hellebrand, H; Gal, A; Cremers, F.

Nat Genet ; 2(2): 139-43, 1992 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-1303264

9.

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.

Daw, S C; Taylor, C; Kraman, M; Call, K; Mao, J; Schuffenhauer, S; Meitinger, T; Lipson, T; Goodship, J; Scambler, P.

Nat Genet ; 13(4): 458-60, 1996 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-8696341

10.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ruiz-Perez, V L; Ide, S E; Strom, T M; Lorenz, B; Wilson, D; Woods, K; King, L; Francomano, C; Freisinger, P; Spranger, S; Marino, B; Dallapiccola, B; Wright, M; Meitinger, T; Polymeropoulos, M H; Goodship, J.

Nat Genet ; 24(3): 283-6, 2000 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-10700184

11.

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Strom, T M; Nyakatura, G; Apfelstedt-Sylla, E; Hellebrand, H; Lorenz, B; Weber, B H; Wutz, K; Gutwillinger, N; Rüther, K; Drescher, B; Sauer, C; Zrenner, E; Meitinger, T; Rosenthal, A; Meindl, A.

Nat Genet ; 19(3): 260-3, 1998 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-9662399

12.

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.

Zimprich, A; Grabowski, M; Asmus, F; Naumann, M; Berg, D; Bertram, M; Scheidtmann, K; Kern, P; Winkelmann, J; Müller-Myhsok, B; Riedel, L; Bauer, M; Müller, T; Castro, M; Meitinger, T; Strom, T M; Gasser, T.

Nat Genet ; 29(1): 66-9, 2001 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-11528394

13.

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).

Nat Genet ; 13(1): 35-42, 1996 May.

Artículo en Inglés | MEDLINE | ID: mdl-8673101

14.

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

15.

Replication of restless legs syndrome loci in three European populations.

Kemlink, D; Polo, O; Frauscher, B; Gschliesser, V; Högl, B; Poewe, W; Vodicka, P; Vavrova, J; Sonka, K; Nevsimalova, S; Schormair, B; Lichtner, P; Silander, K; Peltonen, L; Gieger, C; Wichmann, H E; Zimprich, A; Roeske, D; Müller-Myhsok, B; Meitinger, T; Winkelmann, J.

J Med Genet ; 46(5): 315-8, 2009 May.

Artículo en Inglés | MEDLINE | ID: mdl-19279021

16.

INSIG2 promoter variant, obesity markers and lipid parameters - No association in a large Slavonic Caucasian population sample.

Hubácek, J A; Kuthanová, L; Bohuslavová, R; Adámková, V; Lánská, V; Meitinger, T; Pfeufer, A.

Folia Biol (Praha) ; 56(3): 131-4, 2010.

Artículo en Inglés | MEDLINE | ID: mdl-20653998

17.

MitoP2: the mitochondrial proteome database--now including mouse data.

Prokisch, H; Andreoli, C; Ahting, U; Heiss, K; Ruepp, A; Scharfe, C; Meitinger, T.

Nucleic Acids Res ; 34(Database issue): D705-11, 2006 Jan 01.

Artículo en Inglés | MEDLINE | ID: mdl-16381964

18.

Informatics and medicine--from molecules to populations.

Kuhn, K A; Knoll, A; Mewes, H-W; Schwaiger, M; Bode, A; Broy, M; Daniel, H; Feussner, H; Gradinger, R; Hauner, H; Höfler, H; Holzmann, B; Horsch, A; Kemper, A; Krcmar, H; Kochs, E F; Lange, R; Leidl, R; Mansmann, U; Mayr, E W; Meitinger, T; Molls, M; Navab, N; Nüsslin, F; Peschel, C; Reiser, M; Ring, J; Rummeny, E J; Schlichter, J; Schmid, R; Wichmann, H E; Ziegler, S.

Methods Inf Med ; 47(4): 283-95, 2008.

Artículo en Inglés | MEDLINE | ID: mdl-18690362

19.

Widening the view.

Meitinger, T.

Nat Genet ; 15(3): 224-5, 1997 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-9054926

20.

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

Will, K; Dörk, T; Stuhrmann, M; Meitinger, T; Bertele-Harms, R; Tümmler, B; Schmidtke, J.

J Clin Invest ; 93(4): 1852-9, 1994 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-7512993

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