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virtual library in human genetics and molecular biology

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.

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.

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