Human Molecular Genetics

ARTICLES:

E Schollen, E Pardon, L Heykants, J Renard, NA Doggett, DF Callen, JJ Cassiman, and G Matthijs

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene
Hum. Mol. Genet. 1998 7: 157-164; doi:10.1093/hmg/7.2.157 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G David, A Durr, G Stevanin, G Cancel, N Abbas, A Benomar, S Belal, AS Lebre, M Abada-Bendib, D Grid, M Holmberg, M Yahyaoui, F Hentati, T Chkili, Y Agid, and A Brice

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
Hum. Mol. Genet. 1998 7: 165-170; doi:10.1093/hmg/7.2.165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Johansson, L Forsgren, O Sandgren, A Brice, G Holmgren, and M Holmberg

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation
Hum. Mol. Genet. 1998 7: 171-176; doi:10.1093/hmg/7.2.171 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Del-Favero, L Krols, A Michalik, J Theuns, A Lofgren, D Goossens, A Wehnert, D Van den Bossche, K Van Zand, H Backhovens, N van Regenmorter, JJ Martin, and C Van Broeckhoven

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion
Hum. Mol. Genet. 1998 7: 177-186; doi:10.1093/hmg/7.2.177 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Ivanova, N Henon, V Lepage, D Charron, E Vicaut, and F Schachter

HLA-DR alleles display sex-dependent effects on survival and discriminate between individual and familial longevity
Hum. Mol. Genet. 1998 7: 187-194; doi:10.1093/hmg/7.2.187 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TH Thai, F Du, JT Tsan, Y Jin, A Phung, MA Spillman, HF Massa, CY Muller, R Ashfaq, JM Mathis, DS Miller, BJ Trask, R Baer, and AM Bowcock

Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers
Hum. Mol. Genet. 1998 7: 195-202; doi:10.1093/hmg/7.2.195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Wada, S Toh, K Taniguchi, T Nakamura, T Uchiumi, K Kohno, I Yoshida, A Kimura, S Sakisaka, Y Adachi, and M Kuwano

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome
Hum. Mol. Genet. 1998 7: 203-207; doi:10.1093/hmg/7.2.203 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Soufir, MF Avril, A Chompret, F Demenais, J Bombled, A Spatz, D Stoppa- Lyonnet, J Benard, and B Bressac-de Paillerets

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group [published erratum appears in Hum Mol Genet 1998 May;7(5):941]
Hum. Mol. Genet. 1998 7: 209-216; doi:10.1093/hmg/7.2.209 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Deguen, P Merel, L Goutebroze, M Giovannini, H Reggio, M Arpin, and G Thomas

Impaired interaction of naturally occurring mutant NF2 protein with actin-based cytoskeleton and membrane
Hum. Mol. Genet. 1998 7: 217-226; doi:10.1093/hmg/7.2.217 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Yamakawa, YK Huot, MA Haendelt, R Hubert, XN Chen, GE Lyons, and JR Korenberg

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system
Hum. Mol. Genet. 1998 7: 227-237; doi:10.1093/hmg/7.2.227 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LT Braiterman, S Zheng, PA Watkins, MT Geraghty, G Johnson, MC McGuinness, AB Moser, and KD Smith

Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins
Hum. Mol. Genet. 1998 7: 239-247; doi:10.1093/hmg/7.2.239 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Michalickova, M Susic, MC Willing, RJ Wenstrup, and WG Cole

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I
Hum. Mol. Genet. 1998 7: 249-255; doi:10.1093/hmg/7.2.249 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HG Kraft, M Windegger, HJ Menzel, and G Utermann

Significant impact of the +93 C/T polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but not in Caucasians: confounding effect of linkage disequilibrium
Hum. Mol. Genet. 1998 7: 257-264; doi:10.1093/hmg/7.2.257 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Jalanko, K Tenhunen, CE McKinney, ME LaMarca, J Rapola, T Autti, R Joensuu, T Manninen, I Sipila, S Ikonen, P Riekkinen, Jr, EI Ginns, and L Peltonen

Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients
Hum. Mol. Genet. 1998 7: 265-272; doi:10.1093/hmg/7.2.265 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AM Payne, SM Downes, DA Bessant, R Taylor, GE Holder, MJ Warren, AC Bird, and SS Bhattacharya

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1
Hum. Mol. Genet. 1998 7: 273-277; doi:10.1093/hmg/7.2.273 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JA Yoder and TH Bestor

A candidate mammalian DNA methyltransferase related to pmt1p of fission yeast
Hum. Mol. Genet. 1998 7: 279-284; doi:10.1093/hmg/7.2.279 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MS Tomek, MR Brown, SR Mani, A Ramesh, CR Srisailapathy, P Coucke, RI Zbar, AM Bell, WT McGuirt, K Fukushima, PJ Willems, G Van Camp, and RJ Smith

Localization of a gene for otosclerosis to chromosome 15q25-q26
Hum. Mol. Genet. 1998 7: 285-290; doi:10.1093/hmg/7.2.285 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HM Mitchison, SL Hofmann, CH Becerra, PB Munroe, BD Lake, YJ Crow, JB Stephenson, RE Williams, IL Hofman, PEM Taschner, JJ Martin, M Philippart, E Andermann, F Andermann, SE Mole, RM Gardiner, and AM O'Rawe

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]
Hum. Mol. Genet. 1998 7: 291-297; doi:10.1093/hmg/7.2.291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Perry, S Feather, A Smith, S Palmer, and A Ashworth

The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome
Hum. Mol. Genet. 1998 7: 299-305; doi:10.1093/hmg/7.2.299 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Martorell, DG Monckton, J Gamez, KJ Johnson, I Gich, AL de Munain, and M Baiget

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients
Hum. Mol. Genet. 1998 7: 307-312; doi:10.1093/hmg/7.2.307 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RJ Rottier, E Bonten, and A d'Azzo

A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse
Hum. Mol. Genet. 1998 7: 313-321; doi:10.1093/hmg/7.2.313 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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