Human Molecular Genetics

ARTICLES:

A Schwartz, DC Chan, LG Brown, R Alagappan, D Pettay, C Disteche, B McGillivray, A de la Chapelle, and DC Page

Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination
Hum. Mol. Genet. 1998 7: 1-11; doi:10.1093/hmg/7.1.1 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

BJ Trask, C Friedman, A Martin-Gallardo, L Rowen, C Akinbami, J Blankenship, C Collins, D Giorgi, S Iadonato, F Johnson, WL Kuo, H Massa, T Morrish, S Naylor, OT Nguyen, S Rouquier, T Smith, DJ Wong, J Youngblom, and G van den Engh

Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes
Hum. Mol. Genet. 1998 7: 13-26; doi:10.1093/hmg/7.1.13 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Wiltshire, S Bhattacharyya, JA Faux, NI Leaves, SE Daniels, MF Moffatt, A James, AW Musk, and WO Cookson

A genome scan for loci influencing total serum immunoglobulin levels: possible linkage of IgA to the chromosome 13 atopy locus
Hum. Mol. Genet. 1998 7: 27-31; doi:10.1093/hmg/7.1.27 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Sternberg, C Danan, A Lombes, P Laforet, E Girodon, M Goossens, and S Amselem

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders
Hum. Mol. Genet. 1998 7: 33-42; doi:10.1093/hmg/7.1.33 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Cruts, CM van Duijn, H Backhovens, M Van den Broeck, A Wehnert, S Serneels, R Sherrington, M Hutton, J Hardy, PH St George-Hyslop, A Hofman, and C Van Broeckhoven

Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
Hum. Mol. Genet. 1998 7: 43-51; doi:10.1093/hmg/7.1.43 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AG Bijvoet, EH van de Kamp, MA Kroos, JH Ding, BZ Yang, P Visser, CE Bakker, MP Verbeet, BA Oostra, AJ Reuser, and AT van der Ploeg

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
Hum. Mol. Genet. 1998 7: 53-62; doi:10.1093/hmg/7.1.53 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EW Johnson, J Dubovsky, SS Rich, CA O'Donovan, HT Orr, VE Anderson, A Gil-Nagel, P Ahmann, CG Dokken, DT Schneider, and JL Weber

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
Hum. Mol. Genet. 1998 7: 63-67; doi:10.1093/hmg/7.1.63 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JK Schweitzer and DM Livingston

Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation
Hum. Mol. Genet. 1998 7: 69-74; doi:10.1093/hmg/7.1.69 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AH Alkhayat, SA Kraemer, JR Leipprandt, M Macek, WJ Kleijer, and KH Friderici

Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis
Hum. Mol. Genet. 1998 7: 75-83; doi:10.1093/hmg/7.1.75 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Jarvela, M Sainio, T Rantamaki, VM Olkkonen, O Carpen, L Peltonen, and A Jalanko

Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
Hum. Mol. Genet. 1998 7: 85-90; doi:10.1093/hmg/7.1.85 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JM Greally, DJ Starr, S Hwang, L Song, M Jaarola, and S Zemel

The mouse H19 locus mediates a transition between imprinted and non- imprinted DNA replication patterns
Hum. Mol. Genet. 1998 7: 91-95; doi:10.1093/hmg/7.1.91 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GM Brown, RA Furlong, CA Sargent, RP Erickson, G Longepied, M Mitchell, MH Jones, TB Hargreave, HJ Cooke, and NA Affara

Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene
Hum. Mol. Genet. 1998 7: 97-107; doi:10.1093/hmg/7.1.97 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Chiurazzi, MG Pomponi, R Willemsen, BA Oostra, and G Neri

In vitro reactivation of the FMR1 gene involved in fragile X syndrome
Hum. Mol. Genet. 1998 7: 109-113; doi:10.1093/hmg/7.1.109 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SA Igdoura, C Gafuik, C Mertineit, F Saberi, AV Pshezhetsky, M Potier, JM Trasler, and RA Gravel

Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts
Hum. Mol. Genet. 1998 7: 115-121; doi:10.1093/hmg/7.1.115 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Butler, PN Leigh, MJ McPhaul, and JM Gallo

Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy
Hum. Mol. Genet. 1998 7: 121-127; doi:10.1093/hmg/7.1.121 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RA Decker, ML Peacock, and P Watson

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation
Hum. Mol. Genet. 1998 7: 129-134; doi:10.1093/hmg/7.1.129 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Small and ST Warren

Emerin deletions occurring on both Xq28 inversion backgrounds
Hum. Mol. Genet. 1998 7: 135-139; doi:10.1093/hmg/7.1.135 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Lopes, N Ravise, A Vandenberghe, F Palau, V Ionasescu, M Mayer, N Levy, N Wood, N Tachi, P Bouche, P Latour, M Ruberg, A Brice, and E LeGuern

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination
Hum. Mol. Genet. 1998 7: 141-148; doi:10.1093/hmg/7.1.141 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Burwinkel, S Shiomi, A Al Zaben, and MW Kilimann

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis
Hum. Mol. Genet. 1998 7: 149-154; doi:10.1093/hmg/7.1.149 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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