Human Molecular Genetics

ARTICLES:

AP Shuber, LA Michalowsky, GS Nass, J Skoletsky, LM Hire, SK Kotsopoulos, MF Phipps, DM Barberio, and KW Klinger

High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes
Hum. Mol. Genet. 1997 6: 337-347; doi:10.1093/hmg/6.3.337 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JK Schweitzer and DM Livingston

Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast
Hum. Mol. Genet. 1997 6: 349-355; doi:10.1093/hmg/6.3.349 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SE Holmes, MA Riazi, W Gong, HE McDermid, BT Sellinger, A Hua, F Chen, Z Wang, G Zhang, B Roe, I Gonzalez, DM McDonald-McGinn, E Zackai, BS Emanuel, and ML Budarf

Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation
Hum. Mol. Genet. 1997 6: 357-367; doi:10.1093/hmg/6.3.357 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Winograd, MP Reilly, R Roe, J Lutz, E Laughner, X Xu, L Hu, T Asakura, C vander Kolk, JD Strandberg, and GL Semenza

Perinatal lethality and multiple craniofacial malformations in MSX2 transgenic mice
Hum. Mol. Genet. 1997 6: 369-379; doi:10.1093/hmg/6.3.369 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HK Tang, LY Chao, and GF Saunders

Functional analysis of paired box missense mutations in the PAX6 gene
Hum. Mol. Genet. 1997 6: 381-386; doi:10.1093/hmg/6.3.381 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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
Hum. Mol. Genet. 1997 6: 387-395; doi:10.1093/hmg/6.3.387 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Gharani, DM Waterworth, S Batty, D White, C Gilling-Smith, GS Conway, M McCarthy, S Franks, and R Williamson

Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism
Hum. Mol. Genet. 1997 6: 397-402; doi:10.1093/hmg/6.3.397 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Sirugo, AS Deinard, JR Kidd, and KK 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
Hum. Mol. Genet. 1997 6: 403-408; doi:10.1093/hmg/6.3.403 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HA Dierick, AN Adam, JF Escara-Wilke, and TW Glover

Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network
Hum. Mol. Genet. 1997 6: 409-416; doi:10.1093/hmg/6.3.409 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Reed and Y Boyd

Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease
Hum. Mol. Genet. 1997 6: 417-423; doi:10.1093/hmg/6.3.417 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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 [published erratum appears in Hum Mol Genet 1997 May;6(5):829]
Hum. Mol. Genet. 1997 6: 425-433; doi:10.1093/hmg/6.3.425 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Gecz, BA Oostra, A Hockey, P Carbonell, G Turner, EA Haan, GR Sutherland, and JC Mulley

FMR2 expression in families with FRAXE mental retardation
Hum. Mol. Genet. 1997 6: 435-441; doi:10.1093/hmg/6.3.435 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

FM Reid, A Rovio, IJ Holt, and HT Jacobs

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation
Hum. Mol. Genet. 1997 6: 443-449; doi:10.1093/hmg/6.3.443 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GJ Brock and A Bird

Mosaic methylation of the repeat unit of the human ribosomal RNA genes
Hum. Mol. Genet. 1997 6: 451-456; doi:10.1093/hmg/6.3.451 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PJ Gage and SA Camper

Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation
Hum. Mol. Genet. 1997 6: 457-464; doi:10.1093/hmg/6.3.457 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YK Wang, CH Samos, R Peoples, LA 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
Hum. Mol. Genet. 1997 6: 465-472; doi:10.1093/hmg/6.3.465 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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
Hum. Mol. Genet. 1997 6: 473-477; doi:10.1093/hmg/6.3.473 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KM Timms, ML Bondeson, MA Ansari-Lari, K Lagerstedt, DM Muzny, SP Dugan-Rocha, DL Nelson, U Pettersson, and RA Gibbs

Molecular and phenotypic variation in patients with severe Hunter syndrome
Hum. Mol. Genet. 1997 6: 479-486; doi:10.1093/hmg/6.3.479 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EE Wanker, C Rovira, E Scherzinger, R Hasenbank, S Walter, D Tait, J Colicelli, and H Lehrach

HIP-I: a huntingtin interacting protein isolated by the yeast two- hybrid system
Hum. Mol. Genet. 1997 6: 487-495; doi:10.1093/hmg/6.3.487 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Talbot, CP Ponting, AM Theodosiou, NR Rodrigues, R Surtees, R Mountford, and KE 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?
Hum. Mol. Genet. 1997 6: 497-500; doi:10.1093/hmg/6.3.497 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

ST Winokur, U Bengtsson, JC Vargas, JJ Wasmuth, and MR Altherr

The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region
Hum. Mol. Genet. 1997 6: 502. [Request Permissions]  

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