HUM-MOLGEN archive: LITE: Human Molecular Genetics 06:03 (March Issue)

========================================== Human Molecular Genetics March 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 A P Shuber, L A Michalowsky, G S Nass, J Skoletsky, L M Hire, S K Kotsopoulos, M F Phipps, D M Barberio and K W Klinger High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes P. 337 J K Schweitzer and D M Livingston Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast P. 349 S E Holmes, M A Riazi, W Gong, H E McDermid, B T Sellinger, A Hua, F Chen, Z Wang, G Zhang, B Roe, I Gonzalez, D M McDonald-McGinn, E Zackai, B S Emanuel and M L Budarf Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation P. 357 J Winograd, M P Reilly, R Roe, J Lutz, E Laughner, X Xu, L Hu, T Asakura, C vander Kolk, J D Strandberg and G L Semenza Perinatal lethality and multiple craniofacial malformations in MSX2 transgenic mice P. 369 H K Tang, L-Y Chao and G F Saunders Functional analyis of paired box missense mutations in the PAX6 gene P. 381 M Zeschnigk, B Schmitz, B Dittrich, K Buiting, B Horsthemke and W Doerfler Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method P. 387 N Gharani, D M Waterworth, S Batty, D White, C Gilling- Smith, G S Conway, M McCarthy, S Franks and R Williamson Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism P. 397 G Sirugo, A S Deinard, J R Kidd and K K Kidd Survey of maximum CTG/CAG repeat lengths in humans and non-human primates: total genome scan in populations using the Repeat Expansion Detection method P. 403 H A Dierick, A N Adam, J F Escara-Wilke and T W Glover Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network P. 409 V Reed and Y Boyd Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease P. 417 C Cecchi, M Biasotto, M Tosi and P Avner The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene P. 425 J Gecz, B A Oostra, A Hockey, P Carbonell, G Turner, E A Haan, G R Sutherland and J C Mulley FMR2 expression in families with FRAXE mental retardation P. 435 F M Reid, A Rovio, I J Holt and H T Jacobs Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation P. 443 G J R Brock and A Bird Mosaic methylation of the repeat unit of the human ribosomal RNA genes P. 451 P J Gage and S A Camper Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation P. 457 Y-K Wang, C H Samos, R Peoples, L A Perez-Jurado, R Nusse and U Francke A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23 P. 465 M Guipponi, F Rivier, F Vigevano, C Beck, A Crespel, B Echenne, P Lucchini, R Sebastianelli, M Baldy-Moulinier and A Malafosse Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q P. 473 K M Timms, M-L Bondeson, M A Ansari-Lari, K Lagerstedt, D M Muzny, S P Dugan-Rocha, D L Nelson, U Pettersson and R A Gibbs Molecular and phenotypic variation in patients with severe Hunter syndrome P. 479 E E Wanker, C Rovira, E Scherzinger, R Hasenbank, S Walter, D Tait, J Colicelli and H Lehrach HIP-1: A Huntingtin interacting protein isolated by the yeast two-hybrid system P. 487 K Talbot, C P Ponting, A M Theodosiou, N R Rodrigues, R Surtees, R Mountford and K E Davies Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? P. 497 =========================================== 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 March 1997 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 February 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. 22/01/97 February issue page 4 ************************************************************************ Dr. Arthur A.B. Bergen Department of Ophthalmogenetics The Netherlands Ophthalmic Research Institute (IOI) Royal Academy of Sciences of the Netherlands (KNAW) ** Snail-mail: ** ** FAX: ** ** E-mail: ** P.O.Box 12141 (+31)206916521 A.Bergen@IOI.KNAW.NL 1100 AC Amsterdam The Netherlands ************************************************************************