HUM-MOLGEN archive: LITE: Human Molecular Genetics 06:02 (Febr 1997)

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 6, No 2 February 1997 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== NOTES: 1. Tables of contents for Human Molecular Genetics from May 1995 to the latest issue can be found on the HUM-MOLGEN web site at:- http://www.informatik.uni-rostock.de/HUM-MOLGEN/journals/HMG/ 2. Abstracts for the papers listed below will shortly be available at the Oxford University Press World Wide Web site. Simply go to the Human Molecular Genetics home page at:- http://www.oup.co.uk/hmg/ and click on "Contents and Abstracts of Current Issues" ============================================= 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. If you would like further details about Human Molecular Genetics, including details of subscription rates, please contact:- Journals Subscriptions Department Oxford University Press Great Clarendon Street Oxford OX2 6DP United Kingdom Tel: +44 1865 267907 Fax: +44 1865 267485 E-mail: jnl.info@oup.co.uk Copyright in the table of contents listed above is held by Oxford University Press, but you are welcome to circulate them further, provided that Oxford University Press is credited as publisher and copyright holder. 17/12/96 February issue page 3