Human Molecular Genetics

ARTICLES:

SS Chong, SD Pack, AV Roschke, A Tanigami, R Carrozzo, AC Smith, WB Dobyns, and DH Ledbetter

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
Hum. Mol. Genet. 1997 6: 147-155; doi:10.1093/hmg/6.2.147 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Lo Nigro, CS Chong, AC Smith, WB Dobyns, R Carrozzo, and DH Ledbetter

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
Hum. Mol. Genet. 1997 6: 157-164; doi:10.1093/hmg/6.2.157 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TM Strom, F Francis, B Lorenz, A Boddrich, MJ Econs, H Lehrach, and T Meitinger

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia
Hum. Mol. Genet. 1997 6: 165-171; doi:10.1093/hmg/6.2.165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Murray, JN Macpherson, MC Pound, A Sharrock, SA Youings, NR Dennis, N McKechnie, P Linehan, NE Morton, and PA Jacobs

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission
Hum. Mol. Genet. 1997 6: 173-184; doi:10.1093/hmg/6.2.173 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NG Larsson, A Oldfors, JD Garman, GS Barsh, and DA Clayton

Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans
Hum. Mol. Genet. 1997 6: 185-191; doi:10.1093/hmg/6.2.185 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Boldog, RM Gemmill, J West, M Robinson, L Robinson, E Li, J Roche, S Todd, B Waggoner, R Lundstrom, J Jacobson, MR Mullokandov, H Klinger, and HA Drabkin

Chromosome 3p14 homozygous deletions and sequence analysis of FRA3B
Hum. Mol. Genet. 1997 6: 193-203; doi:10.1093/hmg/6.2.193 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CN Hahn, M del Pilar Martin, M Schroder, MT Vanier, Y Hara, K Suzuki, K Suzuki, and A d'Azzo

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase
Hum. Mol. Genet. 1997 6: 205-211; doi:10.1093/hmg/6.2.205 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GB Collin, JD Marshall, LR Cardon, and PM Nishina

Homozygosity mapping at Alstrom syndrome to chromosome 2p
Hum. Mol. Genet. 1997 6: 213-219; doi:10.1093/hmg/6.2.213 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Munaro, V Tiranti, D Sandona, E Lamantea, G Uziel, R Bisson, and M Zeviani

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome
Hum. Mol. Genet. 1997 6: 221-228; doi:10.1093/hmg/6.2.221 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TA Carter, CG Bonnemann, CH Wang, S Obici, E Parano, M De Fatima Bonaldo, BM Ross, GK Penchaszadeh, A Mackenzie, MB Soares, LM Kunkel, and TC Gilliam

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions
Hum. Mol. Genet. 1997 6: 229-236; doi:10.1093/hmg/6.2.229 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Roberts, SC Daw, S Halford, and PJ Scambler

Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome
Hum. Mol. Genet. 1997 6: 237-245; doi:10.1093/hmg/6.2.237 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LG Wilming, CA Snoeren, A van Rijswijk, F Grosveld, and C Meijers

The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients
Hum. Mol. Genet. 1997 6: 247-258; doi:10.1093/hmg/6.2.247 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Pizzuti, G Novelli, A Ratti, F Amati, A Mari, G Calabrese, S Nicolis, V Silani, B Marino, G Scarlato, S Ottolenghi, and B Dallapiccola

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome
Hum. Mol. Genet. 1997 6: 259-265; doi:10.1093/hmg/6.2.259 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W Gong, BS Emanuel, N Galili, DH Kim, B Roe, DA Driscoll, and ML Budarf

Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region
Hum. Mol. Genet. 1997 6: 267-276; doi:10.1093/hmg/6.2.267 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W Liebetrau, A Budde, A Savoia, F Grummt, and H Hoehn

p53 activates Fanconi anemia group C gene expression
Hum. Mol. Genet. 1997 6: 277-283; doi:10.1093/hmg/6.2.277 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AM Dunning, M Chiano, NR Smith, J Dearden, M Gore, S Oakes, C Wilson, M Stratton, J Peto, D Easton, D Clayton, and BA Ponder

Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population
Hum. Mol. Genet. 1997 6: 285-289; doi:10.1093/hmg/6.2.285 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Connor, A Smith, R Wooster, M Stratton, A Dixon, E Campbell, TM Tait, T Freeman, and A Ashworth

Cloning, chromosomal mapping and expression pattern of the mouse Brca2 gene
Hum. Mol. Genet. 1997 6: 291-300; doi:10.1093/hmg/6.2.291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SS Chong, E Almqvist, H Telenius, L LaTray, K Nichol, B Bourdelat-Parks, YP Goldberg, BR Haddad, F Richards, D Sillence, CR Greenberg, E Ives, G Van den Engh, MR Hughes, and MR Hayden

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses
Hum. Mol. Genet. 1997 6: 301-309. [Abstract] [PDF] [Request Permissions]  

DK Sanghera, DR Wagenknecht, JA McIntyre, and MI Kamboh

Identification of structural mutations in the fifth domain of apolipoprotein H (beta 2-glycoprotein I) which affect phospholipid binding
Hum. Mol. Genet. 1997 6: 311-316; doi:10.1093/hmg/6.2.311 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TJ Wright, DO Ricke, K Denison, S Abmayr, PD Cotter, K Hirschhorn, M Keinanen, D McDonald-McGinn, M Somer, N Spinner, T Yang-Feng, E Zackai, and MR Altherr

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
Hum. Mol. Genet. 1997 6: 317-324; doi:10.1093/hmg/6.2.317 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Wevrick and U Francke

An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene
Hum. Mol. Genet. 1997 6: 325-332; doi:10.1093/hmg/6.2.325 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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