Results: 1-25 | 26-27
Results: 1-25/27

Authors: Gomez-Zaera, M Strom, TM Rodriguez, B Estivill, X Meitinger, T Nunes, V
Citation: M. Gomez-zaera et al., Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees, MOL GEN MET, 72(1), 2001, pp. 72-81

Authors: Zimprich, A Grabowski, M Asmus, F Naumann, M Berg, D Bertram, M Scheidtmann, K Kern, P Winkelmann, F Muller-Myhsok, B Riedel, L Bauer, M Muller, T Castro, M Meitinger, T Strom, TM Gasser, T
Citation: A. Zimprich et al., Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome, NAT GENET, 29(1), 2001, pp. 66-69

Authors: Rudolph, G Haritoglou, C Kalpadakis, P Boergen, KF Meitinger, T
Citation: G. Rudolph et al., LEOPARD syndrome with iris-retina-choroid coloboma, OPHTHALMOLO, 98(11), 2001, pp. 1101-1103

Authors: Rudolph, G Meindl, A Bechmann, M Schworm, HD Achatz, H Boergen, KP Kampik, A Berninger, T Meitinger, T
Citation: G. Rudolph et al., X-linked ocular albinism (Nettleship-falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis, GR ARCH CL, 239(3), 2001, pp. 167-172

Authors: Bassi, MT Bergen, AAB Bitoun, P Charles, SJ Clementi, M Gosselin, R Hurst, J Lewis, RA Lorenz, B Meitinger, T Messiaen, L Ramesar, RS Ballabio, A Schiaffino, MV
Citation: Mt. Bassi et al., Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America, HUM GENET, 108(1), 2001, pp. 51-54

Authors: Holinski-Feder, E Muller-Koch, Y Friedl, W Moselein, G Keller, G Plaschke, J Ballhausen, W Gross, M Baldwin-Jedele, K Jungck, M Mangold, E Vogelsang, H Schackert, HK Lohse, P Murken, J Meitinger, T
Citation: E. Holinski-feder et al., DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2, J BIOCH BIO, 47(1-2), 2001, pp. 21-32

Authors: White, KE Jonsson, KB Carn, G Hampson, G Spector, TD Mannstadt, M Lorenz-Depiereux, B Miyauchi, A Yang, IM Ljunggren, O Meitinger, T Strom, TM Juppner, H Econs, MJ
Citation: Ke. White et al., The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting, J CLIN END, 86(2), 2001, pp. 497-500

Authors: Schmidt, H Rudolph, G Hergersberg, M Schneider, K Moradi, S Meitinger, T
Citation: H. Schmidt et al., Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome, CLIN GENET, 59(2), 2001, pp. 99-105

Authors: White, KE Evans, WE O'Riordan, JLH Speer, MC Econs, MJ Lorenz-Depiereux, B Grabowski, M Meitinger, T Strom, TM
Citation: Ke. White et al., Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23, NAT GENET, 26(3), 2000, pp. 345-348

Authors: de Angelis, MH 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
Citation: Mh. De Angelis et al., Genome-wide, large-scale production of mutant mice by ENU mutagenesis, NAT GENET, 25(4), 2000, pp. 444-447

Authors: Vervoort, R Lennon, A Bird, AC Tulloch, B Axton, R Miano, MG Meindl, A Meitinger, T Ciccodicola, A Wright, AF
Citation: R. Vervoort et al., Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa, NAT GENET, 25(4), 2000, pp. 462-466

Authors: Ruiz-Perez, VL Ide, SE Strom, TM Lorenz, B Wilson, D Woods, K King, L Francomano, C Freisinger, P Spranger, S Marino, B Dallapiccola, B Wright, M Meitinger, T Polymeropoulos, MH Goodship, J
Citation: Vl. Ruiz-perez et al., Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis, NAT GENET, 24(3), 2000, pp. 283-286

Authors: Bauer, M Meyer, M Grimm, L Meitinger, T Zimmer, J Gasser, T Ueffing, M Widmer, HR
Citation: M. Bauer et al., Nonviral glial cell-derived neurotrophic factor gene transfer enhances survival of cultured dopaminergic neurons and improves their function after transplantation in a rat model of Parkinson's disease, HUM GENE TH, 11(11), 2000, pp. 1529-1541

Authors: White, KE Lorenz, B Evans, WE Meitinger, T Strom, TM Econs, MJ
Citation: Ke. White et al., Molecular cloning of a novel human UDP-GalNAc : polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene, GENE, 246(1-2), 2000, pp. 347-356

Authors: Scharfe, C Zaccaria, P Hoertnagel, K Jaksch, M Klopstock, T Dembowski, M Lill, R Prokisch, H Gerbitz, KD Neupert, W Mewes, HW Meitinger, T
Citation: C. Scharfe et al., MITOP, the mitochondrial proteome database: 2000 update, NUCL ACID R, 28(1), 2000, pp. 155-158

Authors: Dohlemann, C Hebe, J Meitinger, T Vosberg, HP
Citation: C. Dohlemann et al., Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood - A case report and family study, Z KARDIOL, 89(7), 2000, pp. 612-619

Authors: Evans, KL Lawson, D Meitinger, T Blackwood, DHR Porteous, DJ
Citation: Kl. Evans et al., Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder, AM J MED G, 96(2), 2000, pp. 158-160

Authors: Scharfe, C Hauschild, M Klopstock, T Janssen, AJM Heidemann, PH Meitinger, T Jaksch, M
Citation: C. Scharfe et al., A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I, J MED GENET, 37(9), 2000, pp. 669-673

Authors: Lichtner, P Konig, R Hasegawa, T Van Esch, H Meitinger, T Schuffenhauer, S
Citation: P. Lichtner et al., An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus mapsdistal to the DiGeorge syndrome region on 10p13/14, J MED GENET, 37(1), 2000, pp. 33-37

Authors: Holinski-Feder, E Reyniers, E Uhrig, S Golla, A Wauters, J Kroisel, P Bossuyt, P Rost, I Jedele, K Zierler, H Schwab, S Wildenauer, D Speicher, MR Willems, PJ Meitinger, T Kooy, RF
Citation: E. Holinski-feder et al., Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3), AM J HU GEN, 66(1), 2000, pp. 16-25

Authors: Tiranti, V Jaksch, M Hofmann, S Galimberti, C Hoertnagel, K Lulli, L Freisinger, P Bindoff, L Gerbitz, KD Comi, GP Uziel, G Zeviani, M Meitinger, T
Citation: V. Tiranti et al., Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency, ANN NEUROL, 46(2), 1999, pp. 161-166

Authors: Scharfe, C Zaccaria, P Hoertnagel, K Jaksch, M Klopstock, T Lill, R Prokisch, H Gerbitz, KD Mewes, HW Meitinger, T
Citation: C. Scharfe et al., MITOP: database for mitochondria-related proteins, genes and diseases, NUCL ACID R, 27(1), 1999, pp. 153-155

Authors: Bauer, M Ueffing, M Meitinger, T Gasser, T
Citation: M. Bauer et al., Somatic gene therapy in animal models of Parkinson's disease, J NEUR TR-S, (55), 1999, pp. 131-147

Authors: Linari, M Ueffing, M Manson, F Wright, A Meitinger, T Becker, J
Citation: M. Linari et al., The retinitis pigmentosa GTPase regulator, RPGR, intellects with the deltasubunit of rod cyclic GMP phosphodiesterase, P NAS US, 96(4), 1999, pp. 1315-1320

Authors: Strom, TM Hortnagel, K Hofmann, S Gekeler, F Scharfe, C Rabl, W Gerbitz, KD Meitinger, T
Citation: Tm. Strom et al., Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein, HUM MOL GEN, 7(13), 1998, pp. 2021-2028
Risultati: 1-25 | 26-27