Human Molecular Genetics

ARTICLES:

M Niksic, M Romano, E Buratti, F Pagani, and FE Baralle

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
Hum. Mol. Genet. 1999 8: 2339-2349; doi:10.1093/hmg/8.13.2339 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D B#hler, V Raker, R L#hrmann, and U Fischer

Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy
Hum. Mol. Genet. 1999 8: 2351-2357; doi:10.1093/hmg/8.13.2351 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N S#venet, A Lellouch-Tubiana, D Schofield, K Hoang-Xuan, M Gessler, D Birnbaum, C Jeanpierre, A Jouvet, and O Delattre

Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype- phenotype correlations
Hum. Mol. Genet. 1999 8: 2359-2368; doi:10.1093/hmg/8.13.2359 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PE Martin, S L Coleman, SO Casalotti, A Forge, and WH Evans

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness
Hum. Mol. Genet. 1999 8: 2369-2376; doi:10.1093/hmg/8.13.2369 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MK Perez, HL Paulson, and RN Pittman

Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix
Hum. Mol. Genet. 1999 8: 2377-2385; doi:10.1093/hmg/8.13.2377 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Blagitko, U Schulz, AA Schinzel, HH Ropers, and VM Kalscheuer

gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome
Hum. Mol. Genet. 1999 8: 2387-2396; doi:10.1093/hmg/8.13.2387 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Mariani, D Baldessari, S Francisconi, L Viggiano, M Rocchi, V Zappavigna, N Malgaretti, and GG Consalez

Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development
Hum. Mol. Genet. 1999 8: 2397-2406; doi:10.1093/hmg/8.13.2397 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

O Brandau, V Schuster, M Weiss, H Hellebrand, FM Fink, A Kreczy, W Friedrich, B Strahm, C Niemeyer, BH Belohradsky, and A Meindl

Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)
Hum. Mol. Genet. 1999 8: 2407-2413; doi:10.1093/hmg/8.13.2407 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Suter, R Tomasini, U Reber, L Gorman, R Kole, and D Sch#mperli

Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human beta-thalassemic mutations
Hum. Mol. Genet. 1999 8: 2415-2423; doi:10.1093/hmg/8.13.2415 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SI Bidichandani, SM Purandare, EE Taylor, G Gumin, H Machkhas, Y Harati, RA Gibbs, T Ashizawa, and PI Patel

Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence
Hum. Mol. Genet. 1999 8: 2425-2436; doi:10.1093/hmg/8.13.2425 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SL Neuhausen, JM Farnham, E Kort, SV Tavtigian, MH Skolnick, and LA Cannon-Albright

Prostate cancer susceptibility locus HPC1 in Utah high-risk pedigrees
Hum. Mol. Genet. 1999 8: 2437-2442; doi:10.1093/hmg/8.13.2437 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KM Loomes, LA Underkoffler, J Morabito, S Gottlieb, DA Piccoli, NB Spinner, HS Baldwin, and RJ Oakey

The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome
Hum. Mol. Genet. 1999 8: 2443-2449; doi:10.1093/hmg/8.13.2443 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Rich, E Assier, J Skepper, HB Segard, RL Allen, D Charron, and J Trowsdale

Disassembly of nuclear inclusions in the dividing cell-a novel insight into neurodegeneration
Hum. Mol. Genet. 1999 8: 2451-2459; doi:10.1093/hmg/8.13.2451 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Fuchs, M Z#rer, GA Rezniczek, D Spazierer, S Oehler, MJ Casta##n, R Hauptmann, and G Wiche

Unusual 5' transcript complexity of plectin isoforms: novel tissue- specific exons modulate actin binding activity
Hum. Mol. Genet. 1999 8: 2461-2472; doi:10.1093/hmg/8.13.2461 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DG Monckton, ML Cayuela, FK Gould, GJ Brock, R Silva, and T Ashizawa

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males
Hum. Mol. Genet. 1999 8: 2473-2478; doi:10.1093/hmg/8.13.2473 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Nanni, JE Ming, M Bocian, K Steinhaus, DW Bianchi, C Die-Smulders, A Giannotti, K Imaizumi, KL Jones, MD Campo, RA Martin, P Meinecke, ME Pierpont, NH Robin, ID Young, E Roessler, and M Muenke

The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
Hum. Mol. Genet. 1999 8: 2479-2488; doi:10.1093/hmg/8.13.2479 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Couldrey, MB Carlton, PM Nolan, WH Colledge, and MJ Evans

A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice
Hum. Mol. Genet. 1999 8: 2489-2495; doi:10.1093/hmg/8.13.2489 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Boccaccio, H Glatt-Deeley, F Watrin, N Ro#ckel, M Lalande, and F Muscatelli

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region
Hum. Mol. Genet. 1999 8: 2497-2505; doi:10.1093/hmg/8.13.2497 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Attard, G Jean, L Forestier, S Cherqui, W van't Hoff, M Broyer, C Antignac, and M Town

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin
Hum. Mol. Genet. 1999 8: 2507-2514; doi:10.1093/hmg/8.13.2507 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NS Heiss, A Girod, R Salowsky, S Wiemann, R Pepperkok, and A Poustka

Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita
Hum. Mol. Genet. 1999 8: 2515-2524; doi:10.1093/hmg/8.13.2515 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Vitali, V Sossi, F Tiziano, S Zappata, A Giuli, M Paravatou-Petsotas, G Neri, and C Brahe

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients
Hum. Mol. Genet. 1999 8: 2525-2532; doi:10.1093/hmg/8.13.2525 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Tiranti, C Galimberti, L Nijtmans, S Bovolenta, MP Perini, and M Zeviani

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions
Hum. Mol. Genet. 1999 8: 2533-2540; doi:10.1093/hmg/8.13.2533 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Yao and EA Shoubridge

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
Hum. Mol. Genet. 1999 8: 2541-2549; doi:10.1093/hmg/8.13.2541 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

X Xu, J Yang, J Rogus, C Chen, and N Schork

Mapping of a blood pressure quantitative trait locus to chromosome 15q in a Chinese population
Hum. Mol. Genet. 1999 8: 2551-2555; doi:10.1093/hmg/8.13.2551 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Bardoni, A Schenck, and JL Mandel

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein
Hum. Mol. Genet. 1999 8: 2557-2566; doi:10.1093/hmg/8.13.2557 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JS Lee, MG Hanford, JL Genova, and RA Farber

Relative stabilities of dinucleotide and tetranucleotide repeats in cultured mammalian cells
Hum. Mol. Genet. 1999 8: 2567-2572; doi:10.1093/hmg/8.13.2567 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 1999 8: 2573; doi:10.1093/hmg/8.13.2573 [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.