Human Molecular Genetics

ARTICLES:

D Phaneuf, N Wakamatsu, JQ Huang, A Borowski, AC Peterson, SR Fortunato, G Ritter, SA Igdoura, CR Morales, G Benoit, BR Akerman, D Leclerc, N Hanai, JD Marth, JM Trasler, and RA Gravel

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases
Hum. Mol. Genet. 1996 5: 1-14; doi:10.1093/hmg/5.1.1 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

FG Barr, LE Nauta, RJ Davis, BW Schafer, LM Nycum, and JA Biegel

In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma
Hum. Mol. Genet. 1996 5: 15-21; doi:10.1093/hmg/5.1.15 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Fukagawa, Y Nakamura, K Okumura, M Nogami, A Ando, H Inoko, N Saitou, and T Ikemura

Human pseudoautosomal boundary-like sequences: expression and involvement in evolutionary formation of the present-day pseudoautosomal boundary of human sex chromosomes
Hum. Mol. Genet. 1996 5: 23-32; doi:10.1093/hmg/5.1.23 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Banfi, A Servadio, M Chung, F Capozzoli, LA Duvick, R Elde, HY Zoghbi, and HT Orr

Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)
Hum. Mol. Genet. 1996 5: 33-40; doi:10.1093/hmg/5.1.33 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Rougeulle and P Avner

Cloning and characterization of a murine brain specific gene Bpx and its human homologue lying within the Xic candidate region
Hum. Mol. Genet. 1996 5: 41-49; doi:10.1093/hmg/5.1.41 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W Berger, D van de Pol, D Bachner, F Oerlemans, H Winkens, H Hameister, B Wieringa, W Hendriks, and HH Ropers

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene
Hum. Mol. Genet. 1996 5: 51-59; doi:10.1093/hmg/5.1.51 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Buresi, E Desmarais, S Vigneron, H Lamarti, N Smaoui, F Cambien, and G Roizes

Structural analysis of the minisatellite present at the 3' end of the human apolipoprotein B gene: new definition of the alleles and evolutionary implications
Hum. Mol. Genet. 1996 5: 61-68; doi:10.1093/hmg/5.1.61 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Ninomiya, M Isomura, K Narahara, Y Seino, and Y Nakamura

Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal
Hum. Mol. Genet. 1996 5: 69-72; doi:10.1093/hmg/5.1.69 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Milasin, F Muntoni, GM Severini, L Bartoloni, M Vatta, M Krajinovic, A Mateddu, C Angelini, F Camerini, A Falaschi, L Mestroni, and M Giacca

A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
Hum. Mol. Genet. 1996 5: 73-79; doi:10.1093/hmg/5.1.73 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Takahashi, H Miyajima, S Shirabe, S Nagataki, A Suenaga, and JD Gitlin

Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease
Hum. Mol. Genet. 1996 5: 81-84; doi:10.1093/hmg/5.1.81 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Krasnoshtein and M Buchwald

Developmental expression of the Fac gene correlates with congenital defects in Fanconi anemia patients
Hum. Mol. Genet. 1996 5: 85-93; doi:10.1093/hmg/5.1.85 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Sittler, D Devys, C Weber, and JL Mandel

Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms
Hum. Mol. Genet. 1996 5: 95-102; doi:10.1093/hmg/5.1.95 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E LeGuern, R Gouider, N Ravise, J Lopes, S Tardieu, M Gugenheim, N Abbas, P Bouche, Y Agid, and A Brice

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?
Hum. Mol. Genet. 1996 5: 103-106; doi:10.1093/hmg/5.1.103 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Q Liu, J Feng, and SS Sommer

Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp
Hum. Mol. Genet. 1996 5: 107-114; doi:10.1093/hmg/5.1.107 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LT Timchenko, NA Timchenko, CT Caskey, and R Roberts

Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy
Hum. Mol. Genet. 1996 5: 115-121; doi:10.1093/hmg/5.1.115 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DR Dunbar, PA Moonie, M Zeviani, and IJ Holt

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids
Hum. Mol. Genet. 1996 5: 123-129; doi:10.1093/hmg/5.1.123 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MM Maheshwar, R Sandford, M Nellist, JP Cheadle, B Sgotto, M Vaudin, and JR Sampson

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish [published erratum appears in Hum Mol Genet 1996 Apr;5(4):562]
Hum. Mol. Genet. 1996 5: 131-137; doi:10.1093/hmg/5.1.131 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LJ Hu, J Laporte, W Kress, P Kioschis, R Siebenhaar, A Poustka, M Fardeau, A Metzenberg, EA Janssen, N Thomas, JL Mandel, and N Dahl

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region
Hum. Mol. Genet. 1996 5: 139-143; doi:10.1093/hmg/5.1.139 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PJ Byrd, CM McConville, P Cooper, J Parkhill, T Stankovic, GM McGuire, JA Thick, and AM Taylor

Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia
Hum. Mol. Genet. 1996 5: 145-149; doi:10.1093/hmg/5.1.145 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Wijker, ZK Wszolek, EC Wolters, MA Rooimans, G Pals, RF Pfeiffer, T Lynch, RL Rodnitzky, KC Wilhelmsen, and F Arwert

Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21
Hum. Mol. Genet. 1996 5: 151-154; doi:10.1093/hmg/5.1.151 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Chaib, C Place, N Salem, S Chardenoux, C Vincent, J Weissenbach, E El-Zir, J Loiselet, and C Petit

A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23
Hum. Mol. Genet. 1996 5: 155-158; doi:10.1093/hmg/5.1.155 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Mitrani-Rosenbaum, Z Argov, A Blumenfeld, CE Seidman, and JG Seidman

Hereditary inclusion body myopathy maps to chromosome 9p1-q1
Hum. Mol. Genet. 1996 5: 159-163; doi:10.1093/hmg/5.1.159 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Veske, R Oehlmann, F Younus, A Mohyuddin, B Muller-Myhsok, SQ Mehdi, and A Gal

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
Hum. Mol. Genet. 1996 5: 165-168; doi:10.1093/hmg/5.1.165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KA Brown, AH Janjua, G Karbani, G Parry, A Noble, G Crockford, DT Bishop, VE Newton, AF Markham, and RF Mueller

Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175 [published erratum appears in Hum Mol Genet 1996 May;5(5):710]
Hum. Mol. Genet. 1996 5: 169-173; doi:10.1093/hmg/5.1.169 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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