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Table of contents of journal: *Human molecular genetics (Print)

Results: 1-25/347

Authors: Luthi-Carter, R Strand, A Peters, NL Solano, SM Hollingsworth, ZR Menon, AS Frey, AS Spektor, BS Penney, EB Schilling, G Ross, CA Borchelt, DR Tapscott, SJ Young, AB Cha, JHJ Olson, JM
Citation: R. Luthi-carter et al., Decreased expression of striatal signaling genes in a mouse model of Huntington's disease, HUM MOL GEN, 9(9), 2000, pp. 1259-1271

Authors: Shapira, M Tur-Kaspa, I Bosgraaf, L Livni, N Grant, AD Grisaru, D Korner, M Ebstein, RP Soreq, H
Citation: M. Shapira et al., A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases, HUM MOL GEN, 9(9), 2000, pp. 1273-1281

Authors: Sukegawa, K Nakamura, H Kato, Z Tomatsu, S Montano, AM Fukao, T Toietta, G Tortora, P Orii, T Kondo, N
Citation: K. Sukegawa et al., Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate-sulfatase causing mucopolysaccharidosis IVA phenotypes, HUM MOL GEN, 9(9), 2000, pp. 1283-1290

Authors: Herr, M Dudbridge, F Zavattari, P Cucca, F Guja, C March, R Campbell, RD Barnett, AH Bain, SC Todd, JA Koeleman, BPC
Citation: M. Herr et al., Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21, HUM MOL GEN, 9(9), 2000, pp. 1291-1301

Authors: Shibata, H Huynh, DP Pulst, SM
Citation: H. Shibata et al., A novel protein with RNA-binding motifs interacts with ataxin-2, HUM MOL GEN, 9(9), 2000, pp. 1303-1313

Authors: Shearman, AM Ordovas, JM Cupples, LA Schaefer, EJ Harmon, MD Shao, YJ Keen, JD DeStefano, AL Joost, O Wilson, PWF Housman, DE Myers, RH
Citation: Am. Shearman et al., Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham Study, HUM MOL GEN, 9(9), 2000, pp. 1315-1320

Authors: Veugelers, M De Cat, B Muyldermans, SY Reekmans, G Delande, N Frints, S Legius, E Fryns, JP Schrander-Stumpel, C Weidle, B Magdalena, N David, G
Citation: M. Veugelers et al., Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene, HUM MOL GEN, 9(9), 2000, pp. 1321-1328

Authors: Weeks, DE Conley, YP Mah, TS Paul, TO Morse, L Ngo-Chang, J Dailey, JP Ferrell, RE Gorin, MB
Citation: De. Weeks et al., A full genome scan for age-related maculopathy, HUM MOL GEN, 9(9), 2000, pp. 1329-1349

Authors: Eerola, I Plate, KH Spiegel, R Boon, LM Mulliken, JB Vikkula, M
Citation: I. Eerola et al., KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformationassociated with cerebral capillary malformation, HUM MOL GEN, 9(9), 2000, pp. 1351-1355

Authors: Rafael, JA Townsend, ER Squire, SE Potter, AC Chamberlain, JS Davies, KE
Citation: Ja. Rafael et al., Dystrophin and utrophin influence fiber type composition and post-synapticmembrane structure, HUM MOL GEN, 9(9), 2000, pp. 1357-1367

Authors: Huppke, P Laccone, F Kramer, N Engel, W Hanefeld, F
Citation: P. Huppke et al., Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients, HUM MOL GEN, 9(9), 2000, pp. 1369-1375

Authors: Bienvenu, T Carrie, A de Roux, N Vinet, MC Jonveaux, P Couvert, P Villard, L Arzimanoglou, A Beldjord, C Fontes, M Tardieu, M Chelly, J
Citation: T. Bienvenu et al., MECP2 mutations account for most cases of typical forms of Rett syndrome, HUM MOL GEN, 9(9), 2000, pp. 1377-1384

Authors: Yu, HW Lee, MH Starck, L Elias, ER Irons, M Salen, G Patel, SB Tint, GS
Citation: Hw. Yu et al., Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome, HUM MOL GEN, 9(9), 2000, pp. 1385-1391

Authors: Tagawa, K Taya, C Hayashi, Y Nakagawa, M Ono, Y Fukuda, R Karasuyama, H Toyama-Sorimachi, N Katsui, Y Hata, S Ishiura, S Nonaka, I Seyama, Y Arahata, K Yonekawa, H Sorimachi, H Suzuki, K
Citation: K. Tagawa et al., Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A, HUM MOL GEN, 9(9), 2000, pp. 1393-1402

Authors: Hewett, J Gonzalez-Agosti, C Slater, D Ziefer, P Li, S Bergeron, D Jacoby, DJ Ozelius, LJ Ramesh, V Breakefield, XO
Citation: J. Hewett et al., Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells, HUM MOL GEN, 9(9), 2000, pp. 1403-1413

Authors: Millar, JK Wilson-Annan, JC Anderson, S Christie, S Taylor, MS Semple, CAM Devon, RS St Clair, DM Muir, WJ Blackwood, DHR Porteous, DJ
Citation: Jk. Millar et al., Disruption of two novel genes by a translocation co-segregating with schizophrenia, HUM MOL GEN, 9(9), 2000, pp. 1415-1423

Authors: Cho, JH Nicolae, DL Ramos, R Fields, CT Rabenau, K Corradino, S Brant, SR Espinosa, R LeBeau, M Hanauer, SB Bodzin, J Bonen, DK
Citation: Jh. Cho et al., Linkage and linkage disequilibrium in chromosome band 1p36 in American Chaldeans with inflammatory bowel disease, HUM MOL GEN, 9(9), 2000, pp. 1425-1432

Authors: Yanagisawa, H Bundo, M Miyashita, T Okamura-Oho, Y Tadokoro, K Tokunaga, K Yamada, M
Citation: H. Yanagisawa et al., Protein binding of a DRPLA family through arginine-glutamic acid dipeptiderepeats is enhanced by extended polyglutamine, HUM MOL GEN, 9(9), 2000, pp. 1433-1442

Authors: Bulfone, A Menguzzato, E Broccoli, V Marchitiello, A Gattuso, C Mariani, M Consalez, GG Martinez, S Ballabio, A Banfi, S
Citation: A. Bulfone et al., Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS, HUM MOL GEN, 9(9), 2000, pp. 1443-1452

Authors: Muchir, A Bonne, G van der Kool, AJ van Meegen, M Baas, F Bolhuis, PA de Visser, M Schwartz, K
Citation: A. Muchir et al., Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B), HUM MOL GEN, 9(9), 2000, pp. 1453-1459

Authors: Lamb, JA Moore, J Bailey, A Monaco, A
Citation: Ja. Lamb et al., Autism: recent molecular genetic advances (vol 5, pg 861, 2000), HUM MOL GEN, 9(9), 2000, pp. 1461-1461

Authors: Sapir, T Horesh, D Caspi, M Atlas, R Burgess, HA Wolf, SG Francis, F Chelly, J Elbaum, M Pietrokovski, S Reiner, O
Citation: T. Sapir et al., Doublecortin mutations cluster in evolutionarily conserved functional domains (vol 9, pg 703, 2000), HUM MOL GEN, 9(9), 2000, pp. 1461-1461

Authors: Peier, AM McIlwain, KL Kenneson, A Warren, ST Paylor, R Nelson, DL
Citation: Am. Peier et al., (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features, HUM MOL GEN, 9(8), 2000, pp. 1145-1159

Authors: Foresta, C Ferlin, A Moro, E
Citation: C. Foresta et al., Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility, HUM MOL GEN, 9(8), 2000, pp. 1161-1169

Authors: Colella, S Nardo, T Botta, E Lehmann, AR Stefanini, M
Citation: S. Colella et al., Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum, HUM MOL GEN, 9(8), 2000, pp. 1171-1175
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