Human Molecular Genetics

ARTICLES:

P Bourgeois, AL Bolcato-Bellemin, JM Danse, A Bloch-Zupan, K Yoshiba, C Stoetzel, and F Perrin-Schmitt

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
Hum. Mol. Genet. 1998 7: 945-957; doi:10.1093/hmg/7.6.945 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AR La Spada, KR Peterson, SA Meadows, ME McClain, G Jeng, RS Chmelar, HA Haugen, K Chen, MJ Singer, D Moore, BJ Trask, KH Fischbeck, CH Clegg, and GS McKnight

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability
Hum. Mol. Genet. 1998 7: 959-967; doi:10.1093/hmg/7.6.959 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Matsumura, C Nishigori, T Yagi, S Imamura, and H Takebe

Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms
Hum. Mol. Genet. 1998 7: 969-974; doi:10.1093/hmg/7.6.969 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RA Schwalbe, L Bianchi, EA Accili, and AM Brown

Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment
Hum. Mol. Genet. 1998 7: 975-980; doi:10.1093/hmg/7.6.975 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SR Lamande, JF Bateman, W Hutchison, RJ McKinlay Gardner, SP Bower, E Byrne, and HH Dahl

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
Hum. Mol. Genet. 1998 7: 981-989; doi:10.1093/hmg/7.6.981 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Tait, M Riccio, A Sittler, E Scherzinger, S Santi, A Ognibene, NM Maraldi, H Lehrach, and EE Wanker

Ataxin-3 is transported into the nucleus and associates with the nuclear matrix
Hum. Mol. Genet. 1998 7: 991-997; doi:10.1093/hmg/7.6.991 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Fransen, R D'Hooge, G Van Camp, M Verhoye, J Sijbers, E Reyniers, P Soriano, H Kamiguchi, R Willemsen, SK Koekkoek, CI De Zeeuw, PP De Deyn, A Van der Linden, V Lemmon, RF Kooy, and PJ Willems

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns
Hum. Mol. Genet. 1998 7: 999-1009; doi:10.1093/hmg/7.6.999 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

WP Robinson, BD Kuchinka, F Bernasconi, MB Petersen, A Schulze, K Brondum- Nielsen, SL Christian, DH Ledbetter, AA Schinzel, B Horsthemke, S Schuffenhauer, RC Michaelis, S Langlois, and TJ Hassold

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
Hum. Mol. Genet. 1998 7: 1011-1019; doi:10.1093/hmg/7.6.1011 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Tassabehji, K Metcalfe, J Hurst, GS Ashcroft, C Kielty, C Wilmot, D Donnai, AP Read, and CJP Jones

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa
Hum. Mol. Genet. 1998 7: 1021-1028; doi:10.1093/hmg/7.6.1021 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Schwartz, CP Alvares, MB White, and S Fields

Mutation detection by a two-hybrid assay
Hum. Mol. Genet. 1998 7: 1029-1032; doi:10.1093/hmg/7.6.1029 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KR Johnson, HO Sweet, LR Donahue, P Ward-Bailey, RT Bronson, and MT Davisson

A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly
Hum. Mol. Genet. 1998 7: 1033-1038; doi:10.1093/hmg/7.6.1033 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HJ Han, T Tokino, and Y Nakamura

CSR, a scavenger receptor-like protein with a protective role against cellular damage causedby UV irradiation and oxidative stress
Hum. Mol. Genet. 1998 7: 1039-1046; doi:10.1093/hmg/7.6.1039 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GC Yang, D Croaker, AL Zhang, P Manglick, T Cartmill, and D Cass

A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease
Hum. Mol. Genet. 1998 7: 1047-1052; doi:10.1093/hmg/7.6.1047 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M van Slegtenhorst, M Nellist, B Nagelkerken, J Cheadle, R Snell, A van den Ouweland, A Reuser, J Sampson, D Halley, and P van der Sluijs

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
Hum. Mol. Genet. 1998 7: 1053-1057; doi:10.1093/hmg/7.6.1053 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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