Human Molecular Genetics

ARTICLES:

J Schweizer, D Zynger, and U Francke

In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit
Hum. Mol. Genet. 1999 8: 555-566; doi:10.1093/hmg/8.4.555 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Abbas, CB Lucking, S Ricard, A Durr, V Bonifati, G De Michele, S Bouley, JR Vaughan, T Gasser, R Marconi, E Broussolle, C Brefel-Courbon, BS Harhangi, BA Oostra, E Fabrizio, GA Bohme, L Pradier, NW Wood, A Filla, G Meco, P Denefle, Y Agid, and A Brice

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
Hum. Mol. Genet. 1999 8: 567-574; doi:10.1093/hmg/8.4.567 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JT Chang, N Esumi, K Moore, Y Li, S Zhang, C Chew, B Goodman, A Rattner, S Moody, G Stetten, PA Campochiaro, and DJ Zack

Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium
Hum. Mol. Genet. 1999 8: 575-583; doi:10.1093/hmg/8.4.575 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Thaete, D Brett, P Monaghan, S Whitehouse, G Rennie, E Rayner, CS Cooper, and G Goodwin

Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus
Hum. Mol. Genet. 1999 8: 585-591; doi:10.1093/hmg/8.4.585 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CN Lumeng, SF Phelps, JA Rafael, GA Cox, TL Hutchinson, CR Begy, E Adkins, R Wiltshire, and JS Chamberlain

Characterization of dystrophin and utrophin diversity in the mouse
Hum. Mol. Genet. 1999 8: 593-599; doi:10.1093/hmg/8.4.593 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Zhang, J Lefort, V Kearsey, JR Lapa e Silva, WO Cookson, and BB Vargaftig

A genome-wide screen for asthma-associated quantitative trait loci in a mouse model of allergic asthma
Hum. Mol. Genet. 1999 8: 601-605; doi:10.1093/hmg/8.4.601 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

FM Richards, SA McKee, MH Rajpar, TR Cole, DG Evans, JA Jankowski, C McKeown, DS Sanders, and ER Maher

Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer
Hum. Mol. Genet. 1999 8: 607-610; doi:10.1093/hmg/8.4.607 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AL Brown and GF Kay

Bex1, a gene with increased expression in parthenogenetic embryos, is a member of a novel gene family on the mouse X chromosome [published erratum appears in Hum Mol Genet 1999 May;8(5):943]
Hum. Mol. Genet. 1999 8: 611-619; doi:10.1093/hmg/8.4.611 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Deckert, M Catalano, YV Syagailo, M Bosi, O Okladnova, D Di Bella, MM Nothen, P Maffei, P Franke, J Fritze, W Maier, P Propping, H Beckmann, L Bellodi, and KP Lesch

Excess of high activity monoamine oxidase A gene promoter alleles in female patients with panic disorder
Hum. Mol. Genet. 1999 8: 621-624; doi:10.1093/hmg/8.4.621 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HK Hong, JH Lass, and A Chakravarti

Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene
Hum. Mol. Genet. 1999 8: 625-637; doi:10.1093/hmg/8.4.625 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Shai, FP Quismorio, Jr, L Li, OJ Kwon, J Morrison, DJ Wallace, CM Neuwelt, C Brautbar, WJ Gauderman, and CO Jacob

Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families
Hum. Mol. Genet. 1999 8: 639-644; doi:10.1093/hmg/8.4.639 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KR Johnson, SA Cook, LC Erway, AN Matthews, LP Sanford, NE Paradies, and RA Friedman

Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome
Hum. Mol. Genet. 1999 8: 645-653; doi:10.1093/hmg/8.4.645 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NL Tang, V Ganapathy, X Wu, J Hui, P Seth, PM Yuen, RJ Wanders, TF Fok, and NM Hjelm

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency [published erratum appears in Hum Mol Genet 1999 May;8(5):943]
Hum. Mol. Genet. 1999 8: 655-660; doi:10.1093/hmg/8.4.655 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SB Simpkins, T Bocker, EM Swisher, DG Mutch, DJ Gersell, AJ Kovatich, JP Palazzo, R Fishel, and PJ Goodfellow

MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers
Hum. Mol. Genet. 1999 8: 661-666; doi:10.1093/hmg/8.4.661 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YB Moglabey, R Kircheisen, M Seoud, N El Mogharbel, I Van den Veyver, and R Slim

Genetic mapping of a maternal locus responsible for familial hydatidiform moles
Hum. Mol. Genet. 1999 8: 667-671; doi:10.1093/hmg/8.4.667 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Chai, SL Koppenhafer, SJ Shoesmith, MK Perez, and HL Paulson

Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro
Hum. Mol. Genet. 1999 8: 673-682; doi:10.1093/hmg/8.4.673 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MP Lee, S Brandenburg, GM Landes, M Adams, G Miller, and AP Feinberg

Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting
Hum. Mol. Genet. 1999 8: 683-690; doi:10.1093/hmg/8.4.683 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Kanai and P Koopman

Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia
Hum. Mol. Genet. 1999 8: 691-696; doi:10.1093/hmg/8.4.691 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Grimm, R Sporle, TE Schmid, ID Adler, J Adamski, K Schughart, and J Graw

Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome
Hum. Mol. Genet. 1999 8: 697-710; doi:10.1093/hmg/8.4.697 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Baker, I Litvan, H Houlden, J Adamson, D Dickson, J Perez-Tur, J Hardy, T Lynch, E Bigio, and M Hutton

Association of an extended haplotype in the tau gene with progressive supranuclear palsy
Hum. Mol. Genet. 1999 8: 711-715; doi:10.1093/hmg/8.4.711 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 1999 8: 717; doi:10.1093/hmg/8.4.717 [PDF] [Request Permissions]  

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