Human Molecular Genetics

ARTICLES:

Y Xue, X Gao, CE Lindsell, CR Norton, B Chang, C Hicks, M Gendron-Maguire, EB Rand, G Weinmaster, and T Gridley

Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1
Hum. Mol. Genet. 1999 8: 723-730; doi:10.1093/hmg/8.5.723 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DL Stenoien, CJ Cummings, HP Adams, MG Mancini, K Patel, GN DeMartino, M Marcelli, NL Weigel, and MA Mancini

Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone
Hum. Mol. Genet. 1999 8: 731-741; doi:10.1093/hmg/8.5.731 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Allikmets, WH Raskind, A Hutchinson, ND Schueck, M Dean, and DM Koeller

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X- linked sideroblastic anemia and ataxia (XLSA/A)
Hum. Mol. Genet. 1999 8: 743-749; doi:10.1093/hmg/8.5.743 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W Mills, R Critcher, C Lee, and CJ Farr

Generation of an approximately 2.4 Mb human X centromere-based minichromosome by targeted telomere-associated chromosome fragmentation in DT40
Hum. Mol. Genet. 1999 8: 751-761; doi:10.1093/hmg/8.5.751 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PF Shelbourne, N Killeen, RF Hevner, HM Johnston, L Tecott, M Lewandoski, M Ennis, L Ramirez, Z Li, C Iannicola, DR Littman, and RM Myers

A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice
Hum. Mol. Genet. 1999 8: 763-774; doi:10.1093/hmg/8.5.763 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Bertrandy, P Burlet, O Clermont, C Huber, C Fondrat, D Thierry-Mieg, A Munnich, and S Lefebvre

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution
Hum. Mol. Genet. 1999 8: 775-782; doi:10.1093/hmg/8.5.775 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MT Jong, TA Gray, Y Ji, CC Glenn, S Saitoh, DJ Driscoll, and RD Nicholls

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region
Hum. Mol. Genet. 1999 8: 783-793; doi:10.1093/hmg/8.5.783 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MT Jong, AH Carey, KA Caldwell, MH Lau, MA Handel, DJ Driscoll, CL Stewart, EM Rinchik, and RD Nicholls

Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region
Hum. Mol. Genet. 1999 8: 795-803; doi:10.1093/hmg/8.5.795 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Philippe, M Martinez, M Guilloud-Bataille, C Gillberg, M Rastam, E Sponheim, M Coleman, M Zappella, H Aschauer, L van Malldergerme, C Penet, J Feingold, A Brice, and M Leboyer

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study
Hum. Mol. Genet. 1999 8: 805-812; doi:10.1093/hmg/8.5.805 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Sathasivam, C Hobbs, M Turmaine, L Mangiarini, A Mahal, F Bertaux, EE Wanker, P Doherty, SW Davies, and GP Bates

Formation of polyglutamine inclusions in non-CNS tissue
Hum. Mol. Genet. 1999 8: 813-822; doi:10.1093/hmg/8.5.813 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AL Millar, T Pal, L Madlensky, C Sherman, L Temple, A Mitri, H Cheng, V Marcus, S Gallinger, M Redston, B Bapat, and S Narod

Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium
Hum. Mol. Genet. 1999 8: 823-829; doi:10.1093/hmg/8.5.823 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JE Guidotti, A Mignon, G Haase, C Caillaud, N McDonell, A Kahn, and L Poenaru

Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A- deficient knock-out mice
Hum. Mol. Genet. 1999 8: 831-838; doi:10.1093/hmg/8.5.831 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MT Usdin, PF Shelbourne, RM Myers, and DV Madison

Impaired synaptic plasticity in mice carrying the Huntington's disease mutation
Hum. Mol. Genet. 1999 8: 839-846; doi:10.1093/hmg/8.5.839 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Kim, X Lu, and L Stubbs

Zim1, a maternally expressed mouse Kruppel-type zinc-finger gene located in proximal chromosome 7
Hum. Mol. Genet. 1999 8: 847-854; doi:10.1093/hmg/8.5.847 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LV Anderson, K Davison, JA Moss, C Young, MJ Cullen, J Walsh, MA Johnson, R Bashir, S Britton, S Keers, Z Argov, I Mahjneh, F Fougerousse, JS Beckmann, and KM Bushby

Dysferlin is a plasma membrane protein and is expressed early in human development [published erratum appears in Hum Mol Genet 1999 Jun;8(6):1141]
Hum. Mol. Genet. 1999 8: 855-861; doi:10.1093/hmg/8.5.855 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Tamanini, C Bontekoe, CE Bakker, L van Unen, B Anar, R Willemsen, M Yoshida, H Galjaard, BA Oostra, and AT Hoogeveen

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations
Hum. Mol. Genet. 1999 8: 863-869; doi:10.1093/hmg/8.5.863 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Weiler, R Bashir, LV Anderson, K Davison, JA Moss, S Britton, E Nylen, S Keers, E Vafiadaki, CR Greenberg, CR Bushby, and K Wrogemann

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
Hum. Mol. Genet. 1999 8: 871-877; doi:10.1093/hmg/8.5.871 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Tamaki, CA May, YE Dubrova, and AJ Jeffreys

Extremely complex repeat shuffling during germline mutation at human minisatellite B6.7
Hum. Mol. Genet. 1999 8: 879-888; doi:10.1093/hmg/8.5.879 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SA Janezic, A Ziogas, LM Krumroy, M Krasner, SJ Plummer, P Cohen, M Gildea, D Barker, R Haile, G Casey, and H Anton-Culver

Germline BRCA1 alterations in a population-based series of ovarian cancer cases
Hum. Mol. Genet. 1999 8: 889-897; doi:10.1093/hmg/8.5.889 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JH Fingert, E Heon, JM Liebmann, T Yamamoto, JE Craig, J Rait, K Kawase, ST Hoh, YM Buys, J Dickinson, RR Hockey, D Williams-Lyn, G Trope, Y Kitazawa, R Ritch, DA Mackey, WL Alward, VC Sheffield, and EM Stone

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
Hum. Mol. Genet. 1999 8: 899-905; doi:10.1093/hmg/8.5.899 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Netik, S Forss-Petter, A Holzinger, B Molzer, G Unterrainer, and J Berger

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy
Hum. Mol. Genet. 1999 8: 907-913; doi:10.1093/hmg/8.5.907 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PJ Fisher, D Turic, NM Williams, P McGuffin, P Asherson, D Ball, I Craig, T Eley, L Hill, K Chorney, MJ Chorney, CP Benbow, D Lubinski, R Plomin, and MJ Owen

DNA pooling identifies QTLs on chromosome 4 for general cognitive ability in children
Hum. Mol. Genet. 1999 8: 915-922; doi:10.1093/hmg/8.5.915 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Hernandez, PJ Mee, JE Martin, VL Tybulewicz, and EM Fisher

Transchromosomal mouse embryonic stem cell lines and chimeric mice that contain freely segregating segments of human chromosome 21
Hum. Mol. Genet. 1999 8: 923-933; doi:10.1093/hmg/8.5.923 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Colella, T Nardo, D Mallery, C Borrone, R Ricci, G Ruffa, AR Lehmann, and M Stefanini

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity
Hum. Mol. Genet. 1999 8: 935-941; doi:10.1093/hmg/8.5.935 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 1999 8: 943; doi:10.1093/hmg/8.5.943 [PDF] [Request Permissions]  

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