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

Results: 1-25/300

Authors: Pao, MM Tsutsumi, M Liang, G Uzvolgyi, E Gonzales, FA Jones, PA
Citation: Mm. Pao et al., The endothelin receptor B (EDNRB) promoter displays heterogeneous, site specific methylation patterns in normal and tumor cells, HUM MOL GEN, 10(9), 2001, pp. 903-910

Authors: Singh, S Chao, LY Mishra, R Davies, J Saunders, GF
Citation: S. Singh et al., Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function, HUM MOL GEN, 10(9), 2001, pp. 911-918

Authors: Tanaka, Y Engelender, S Igarashi, S Rao, RK Wanner, T Tanzi, RE Sawa, A Dawson, VL Dawson, TM Ross, CA
Citation: Y. Tanaka et al., Inducible expression of mutant alpha-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis, HUM MOL GEN, 10(9), 2001, pp. 919-926

Authors: Hulkova, H Cervenkova, M Ledvinova, J Tochackova, M Hrebicek, M Poupetova, H Befekadu, A Berna, L Paton, BC Harzer, K Boor, A Smid, F Elleder, M
Citation: H. Hulkova et al., A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation, HUM MOL GEN, 10(9), 2001, pp. 927-940

Authors: Couvert, P Bienvenu, T Aquaviva, C Poirier, K Moraine, C Gendrot, C Verloes, A Andres, C Le Fevre, AC Souville, I Steffann, J des Portes, V Ropers, HH Yntema, HG Fryns, JP Briault, S Chelly, J Cherif, B
Citation: P. Couvert et al., MECP2 is highly mutated in X-linked mental retardation, HUM MOL GEN, 10(9), 2001, pp. 941-946

Authors: Lopez-Bigas, N Olive, M Rabionet, R Ben-David, O Martinez-Matos, JA Bravo, O Banchs, I Volpini, V Gasparini, P Avraham, KB Ferrer, I Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment, HUM MOL GEN, 10(9), 2001, pp. 947-952

Authors: Elomaa, O Pulkkinen, K Hannelius, U Mikkola, M Saarialho-Kere, U Kere, J
Citation: O. Elomaa et al., Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein, HUM MOL GEN, 10(9), 2001, pp. 953-962

Authors: Bean, CJ Hunt, PA Millie, EA Hassold, TJ
Citation: Cj. Bean et al., Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-prone, HUM MOL GEN, 10(9), 2001, pp. 963-972

Authors: Palferman, S Matthews, N Turner, H Moore, J Hervas, A Aubin, A Wallace, S Michelotti, J Wainhouse, C Paul, A Thompson, E Murin, M Gupta, R Garner, C Pickles, A Rutter, M Bailey, A Lamb, JA Marlow, A Scudder, P Barnby, G Monaco, AP Baird, G Cox, A Docherty, Z Warburton, P Green, EP Abbs, SJ Le Couteur, A McConachie, HR Berney, T Kelly, TP De Vries, PJ Bolton, P Green, J Gilchrist, A Whittacker, J Bolton, B Packer, R Maestrini, E Van Engeland, H De Jonge, MV Kemner, C Klauck, SM Beyer, KS Epp, S Poustka, A Benner, A Poustka, F Ruhl, D Schmotzer, G Bolte, S Feineis-Matthews, S Fombonne, E Roge, B Fremolle-Kruck, J Pienkowski, C Tauber, MT Pedersen, L Brondum-Nielsen, K Eriksen, G Haracopos, D Cotterill, RMJ Tsiantis, J Papanikolaou, K Lord, C Corsello, C Guter, S Leventhal, B Cook, E Smalley, S Bailey, J Liu, A Dedricks, M Chrzanowski, L Levitt, J Pauls, D Volkmar, F Weeks, DE
Citation: S. Palferman et al., Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q, HUM MOL GEN, 10(9), 2001, pp. 973-982

Authors: Saarela, J Laine, M Oinonen, C von Schantz, C Jalanko, A Rouvinen, J Peltonen, L
Citation: J. Saarela et al., Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations, HUM MOL GEN, 10(9), 2001, pp. 983-995

Authors: Lindsay, EA Baldini, A
Citation: Ea. Lindsay et A. Baldini, Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region, HUM MOL GEN, 10(9), 2001, pp. 997-1002

Authors: Engemann, S Strodicke, M Paulsen, M Franck, O Reinhardt, R Lane, N Reik, W Walter, J
Citation: S. Engemann et al., Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting (vol 9, pg 2691, 2000), HUM MOL GEN, 10(9), 2001, pp. 1003-1003

Authors: Eldadah, ZA Hamosh, A Biery, NJ Montgomery, RA Duke, M Elkins, R Dietz, HC
Citation: Za. Eldadah et al., Familial Tetralogy of Fallot caused bg mutation in the jagged1 gene (vol 10, pg 163, 2001), HUM MOL GEN, 10(9), 2001, pp. 1003-1003

Authors: Brown, LY Odent, S David, V Blayau, M Dubourg, C Apacik, C Delgado, MA Ha, BD Reynolds, JF Sommer, A Wieczorek, D Brown, SA Muenke, M
Citation: Ly. Brown et al., Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination, HUM MOL GEN, 10(8), 2001, pp. 791-796

Authors: Nothwang, HG Kim, HG Aoki, J Geisterfer, M Kubart, S Wegner, RD van Moers, A Ashworth, LK Haaf, T Bell, J Arai, H Tommerup, N Ropers, HH Wirth, J
Citation: Hg. Nothwang et al., Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain, HUM MOL GEN, 10(8), 2001, pp. 797-806

Authors: Jones, BK Levorse, J Tilghmann, SM
Citation: Bk. Jones et al., Deletion of a nuclease-sensitive region between the Igf2 and H19 genes leads to Igf2 misregulation and increased adiposity, HUM MOL GEN, 10(8), 2001, pp. 807-814

Authors: Ogorelkova, M Kraft, HG Ehnholm, C Utermann, G
Citation: M. Ogorelkova et al., Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians, HUM MOL GEN, 10(8), 2001, pp. 815-824

Authors: Gutmann, DH Haipek, CA Burke, SP Sun, CX Scoles, DR Pulst, SM
Citation: Dh. Gutmann et al., The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the 'open' conformation and suppresses cell growth and motility, HUM MOL GEN, 10(8), 2001, pp. 825-834

Authors: Chaudhry, SS Gazzard, J Baldock, C Dixon, J Rock, MJ Skinner, GC Steel, KP Kielty, CM Dixon, MJ
Citation: Ss. Chaudhry et al., Mutation of the gene encoding fibrillin-2 results in syndactyly in mice, HUM MOL GEN, 10(8), 2001, pp. 835-843

Authors: Gomes-Pereira, M Fortune, MT Monckton, DG
Citation: M. Gomes-pereira et al., Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, butno association with cell division rates, HUM MOL GEN, 10(8), 2001, pp. 845-854

Authors: Khajavi, M Tari, AM Patel, NB Tsuji, K Siwak, DR Meistrich, ML Terry, NHA Ashizawa, T
Citation: M. Khajavi et al., 'Mitotic drive' of expanded CTG repeats in myotonic dystrophy type 1 (DM1), HUM MOL GEN, 10(8), 2001, pp. 855-863

Authors: Nishimura, DY Searby, CC Carmi, R Elbedour, K Van Maldergem, L Fulton, AB Lam, BL Powell, BR Swiderski, RE Bugge, KE Haider, NB Kwitek-Black, AE Ying, LH Duhl, DM Gorman, SW Heon, E Iannaccone, A Bonneau, D Biesecker, LG Jacobson, SG Stone, EM Sheffield, VC
Citation: Dy. Nishimura et al., Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2), HUM MOL GEN, 10(8), 2001, pp. 865-874

Authors: Fischer, J Bouadjar, B Heilig, R Huber, M Lefevre, C Jobard, F Macari, F Bakija-Konsuo, A Ait-Belkacem, F Weissenbach, J Lathrop, M Hohl, D Prud'homme, JF
Citation: J. Fischer et al., Mutations in the gene encoding SLURP-1 in Mel de Meleda, HUM MOL GEN, 10(8), 2001, pp. 875-880

Authors: Zavattari, P Lampis, R Motzo, C Loddo, M Mulargia, A Whalen, M Maioli, M Angius, E Todd, JA Cucca, F
Citation: P. Zavattari et al., Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1,-DRB1 disease loci, HUM MOL GEN, 10(8), 2001, pp. 881-889

Authors: Palmer, LJ Barnes, KC Burton, PR Chen, H Cookson, WOCM Deichmann, KA Elston, RC Holloway, JW Jacobs, KB Laitinen, T Wjst, M
Citation: Lj. Palmer et al., Meta-analysis for linkage to asthma and atopy in the chromosome 5q31-33 candidate region, HUM MOL GEN, 10(8), 2001, pp. 891-899
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