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virtual library in human genetics and molecular biology

ARTICLES

S S Chong, S D Pack, A V Roschke, A Tanigami, R Carrozzo, A C M Smith, W B Dobyns and D H Ledbetter
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3 P. 147

C L Nigro, S S Chong, A C M Smith, W B Dobyns, R Carrozzo and D H Ledbetter
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome P. 157

T M Strom, F Francis, B Lorenz, A Boddrich, M J Econs, H Lehrach and T Meitinger
Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia P. 165

A Murray, J N Macpherson, M C Pound, A Sharrock, S A Youings, N R Dennis, N McKechnie, P Linehan, N E Morton and P A Jacobs
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission P. 173

N-G Larsson, A Oldfors, J D Garman, G S Barsh and D A Clayton
Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans P. 185

F Boldog, R M Gemmill, J West, M Robinson, L Robinson, E Li, J Roche, S Todd, B Waggoner, R Lundstrom, J Jacobson, M R Mullokandov, H Klinger and H A Drabkin
Chromosome 3p14 homozygous deletions and sequence analysis of FRA3B P. 193

C N Hahn, M del P Martin, M Schroder, M T 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 b-galactosidase P. 205


REPORTS

G B Collin, J D Marshall, L R Cardon and P M Nishina
Homozygosity mapping of Alstrom syndrome to chromosome 2p P. 213

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 P. 221

T A Carter, C G Bonnemann, C H Wang, S Obici, E Parano, M de F Bonaldo, B M Ross, G K Penchaszadeh, A Mackenzie, M B Soares, L M Kunkel and T C Gilliam
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions P. 229

C Roberts, S C M Daw, S Halford and P J Scambler
Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome P. 237

L G Wilming, C A S 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 P. 247

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 P. 259

W Gong, B S Emanuel, N Galili, D H Kim, B Roe, D A Driscoll and M L Budarf
Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region P. 267

W Liebetrau, A Budde, A Savoia, F Grummt and H Hoehn
P53 activates Fanconi anemia group C gene expression P. 277

A M Dunning, M Chiano, N R Smith, J Dearden, M Gore, S Oakes, C Wilson, M Stratton, J Peto, D Easton, D Clayton and B A J Ponder
Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population P. 285

F Connor, A Smith, R Wooster, M Stratton, A Dixon, E Campbell, T-M Tait, T Freeman and A Ashworth
Cloning, chromosomal mapping and expression pattern of the mouse Brca2 gene P. 291

S S Chong, E Almqvist, H Telenius, L LaTray, K Nichol, B Bourdelat-Parks, Y P Goldberg, B R Haddad, F Richards, D Sillence, C R Greenberg, E Ives, G Van den Engh, M R Hughes and M R Hayden
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses P. 301

D K Sanghera, D R Wagenknecht, J A McIntyre and M I Kamboh
Identification of structural mutations in the fifth domain of apolipoprotein H (b2-glycoprotein I) which affect phospholipid binding P. 311

T J Wright, D O Ricke, K Denison, S Abmayr, P D Cotter, K Hirschhorn, M Keinanen, D McDonald-McGinn, M Somer, N Spinner, T Yang-Feng, E Zackai and M R Altherr
A transcript map of the newly defined 165 kb Wolf Hirschhorn syndrome critical region P. 317

R Wevrick and U Francke
An imprinted mouse transcript homologous to the human imprinted in Prader-Willi Syndrome (IPW) gene P. 325

Human Molecular Genetics is a monthly journal of original peer-reviewed research, published by Oxford University Press.
In addition to the regular monthly issues, a special review issue, reviewing important developments in the field, is published each year.

The papers listed above will appear in the February 1997 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 January 1997.

Copyright in the table of contents listed above is held by Oxford University Press, but you are welcome to circulate it further, provided that Oxford University Press is credited as publisher and copyright holder.

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