Human Molecular Genetics

ARTICLES:

N Fujita, K Suzuki, MT Vanier, B Popko, N Maeda, A Klein, M Henseler, K Sandhoff, H Nakayasu, and K Suzuki

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
Hum. Mol. Genet. 1996 5: 711-725; doi:10.1093/hmg/5.6.711 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Murray, S Youings, N Dennis, L Latsky, P Linehan, N McKechnie, J Macpherson, M Pound, and P Jacobs

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers
Hum. Mol. Genet. 1996 5: 727-735; doi:10.1093/hmg/5.6.727 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Peltola, R Tikkanen, L Peltonen, and A Jalanko

Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation
Hum. Mol. Genet. 1996 5: 737-743; doi:10.1093/hmg/5.6.737 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Kiyosawa and PF Chance

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
Hum. Mol. Genet. 1996 5: 745-753; doi:10.1093/hmg/5.6.745 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NJ Van Orsouw, D Li, P van der Vlies, H Scheffer, C Eng, CH Buys, FP Li, and J Vijg

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene
Hum. Mol. Genet. 1996 5: 755-761; doi:10.1093/hmg/5.6.755 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Nystrom-Lahti, Y Wu, AL Moisio, RM Hofstra, J Osinga, JP Mecklin, HJ Jarvinen, J Leisti, CH Buys, A de la Chapelle, and P Peltomaki

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
Hum. Mol. Genet. 1996 5: 763-769; doi:10.1093/hmg/5.6.763 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Weber, L Blanch, PR Clements, HS Scott, and JJ Hopwood

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)
Hum. Mol. Genet. 1996 5: 771-777; doi:10.1093/hmg/5.6.771 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DC Rubinsztein, J Leggo, S Goodburn, C Walsh, S Jain, and ES Paykel

Genetic association between monoamine oxidase A microsatellite and RFLP alleles and bipolar affective disorder: analysis and meta-analysis
Hum. Mol. Genet. 1996 5: 779-782; doi:10.1093/hmg/5.6.779 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Hatada, J Inazawa, T Abe, M Nakayama, Y Kaneko, Y Jinno, N Niikawa, H Ohashi, Y Fukushima, K Iida, C Yutani, S Takahashi, Y Chiba, S Ohishi, and T Mukai

Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors
Hum. Mol. Genet. 1996 5: 783-788; doi:10.1093/hmg/5.6.783 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W Gong, BS Emanuel, J Collins, DH Kim, Z Wang, F Chen, G Zhang, B Roe, and ML Budarf

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11
Hum. Mol. Genet. 1996 5: 789-800; doi:10.1093/hmg/5.6.789 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Manilal, TM Nguyen, CA Sewry, and GE Morris

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
Hum. Mol. Genet. 1996 5: 801-808; doi:10.1093/hmg/5.6.801 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Tamanini, N Meijer, C Verheij, PJ Willems, H Galjaard, BA Oostra, and AT Hoogeveen

FMRP is associated to the ribosomes via RNA
Hum. Mol. Genet. 1996 5: 809-813; doi:10.1093/hmg/5.6.809 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MR Passos-Bueno, ES Moreira, M Vainzof, SK Marie, and M Zatz

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
Hum. Mol. Genet. 1996 5: 815-820; doi:10.1093/hmg/5.6.815 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Mornet, C Chateau, MC Hirst, F Thepot, A Taillandier, O Cibois, and JL Serre

Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range
Hum. Mol. Genet. 1996 5: 821-825; doi:10.1093/hmg/5.6.821 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Roepman, D Bauer, T Rosenberg, G van Duijnhoven, E van de Vosse, M Platzer, A Rosenthal, HH Ropers, FP Cremers, and W Berger

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)
Hum. Mol. Genet. 1996 5: 827-833; doi:10.1093/hmg/5.6.827 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Durocher, D Shattuck-Eidens, M McClure, F Labrie, MH Skolnick, DE Goldgar, and J Simard

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations
Hum. Mol. Genet. 1996 5: 835-842; doi:10.1093/hmg/5.6.835 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AL Sertie, M Quimby, ES Moreira, J Murray, M Zatz, SE Antonarakis, and MR Passos- Bueno

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3
Hum. Mol. Genet. 1996 5: 843-847; doi:10.1093/hmg/5.6.843 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Tamagawa, K Kitamura, T Ishida, K Ishikawa, H Tanaka, S Tsuji, and M Nishizawa

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
Hum. Mol. Genet. 1996 5: 849-852; doi:10.1093/hmg/5.6.849 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ME O'Neill, J Marietta, D Nishimura, S Wayne, G Van Camp, L Van Laer, C Negrini, ER Wilcox, A Chen, K Fukushima, L Ni, VC Sheffield, and RJ Smith

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6
Hum. Mol. Genet. 1996 5: 853-856; doi:10.1093/hmg/5.6.853 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DP Kelsell, JM Risk, IM Leigh, HP Stevens, A Ellis, HC Hennies, A Reis, J Weissenbach, DT Bishop, NK Spurr, and JK Field

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC)
Hum. Mol. Genet. 1996 5: 857-860; doi:10.1093/hmg/5.6.857 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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