Human Molecular Genetics

ARTICLES:

JS Beckmann

Genetic studies and molecular structures: the dystrophin associated complex
Hum. Mol. Genet. 1996 5: 865-867. [Request Permissions]  

DJ Elliott, K Ma, SM Kerr, R Thakrar, R Speed, AC Chandley, and H Cooke

An RBM homologue maps to the mouse Y chromosome and is expressed in germ cells
Hum. Mol. Genet. 1996 5: 869-874; doi:10.1093/hmg/5.7.869 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ME Moynahan, E Akgun, and M Jasin

A model for testing recombinogenic sequences in the mouse germline
Hum. Mol. Genet. 1996 5: 875-886; doi:10.1093/hmg/5.7.875 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SM van der Maarel, IH Scholten, I Huber, C Philippe, RF Suijkerbuijk, S Gilgenkrantz, J Kere, FP Cremers, and HH Ropers

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1
Hum. Mol. Genet. 1996 5: 887-897; doi:10.1093/hmg/5.7.887 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EE Eichler, F Lu, Y Shen, R Antonacci, V Jurecic, NA Doggett, RK Moyzis, A Baldini, RA Gibbs, and DL Nelson

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution
Hum. Mol. Genet. 1996 5: 899-912; doi:10.1093/hmg/5.7.899 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Kumar-Singh and JS Chamberlain

Encapsidated adenovirus minichromosomes allow delivery and expression of a 14 kb dystrophin cDNA to muscle cells
Hum. Mol. Genet. 1996 5: 913-921; doi:10.1093/hmg/5.7.913 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Igarashi, Y Takiyama, G Cancel, EA Rogaeva, H Sasaki, A Wakisaka, YX Zhou, H Takano, K Endo, K Sanpei, M Oyake, H Tanaka, G Stevanin, N Abbas, A Durr, EI Rogaev, R Sherrington, T Tsuda, M Ikeda, E Cassa, M Nishizawa, A Benomar, J Julien, J Weissenbach, and S Tsuji

Intergenerational instability of the CAG repeat of the gene for Machado- Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat
Hum. Mol. Genet. 1996 5: 923-932; doi:10.1093/hmg/5.7.923 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PH Vogt, A Edelmann, S Kirsch, O Henegariu, P Hirschmann, F Kiesewetter, FM Kohn, WB Schill, S Farah, C Ramos, M Hartmann, W Hartschuh, D Meschede, HM Behre, A Castel, E Nieschlag, W Weidner, HJ Grone, A Jung, W Engel, and G Haidl

Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
Hum. Mol. Genet. 1996 5: 933-943; doi:10.1093/hmg/5.7.933 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AN Akarsu, I Stoilov, E Yilmaz, BS Sayli, and M Sarfarazi

Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families
Hum. Mol. Genet. 1996 5: 945-952; doi:10.1093/hmg/5.7.945 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Pizzuti, F Amati, G Calabrese, A Mari, A Colosimo, V Silani, L Giardino, A Ratti, D Penso, L Calza, G Palka, G Scarlato, G Novelli, and B Dallapiccola

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene
Hum. Mol. Genet. 1996 5: 953-958; doi:10.1093/hmg/5.7.953 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MR Hill and WO Cookson

A new variant of the beta subunit of the high-affinity receptor for immunoglobulin E (Fc epsilon RI-beta E237G): associations with measures of atopy and bronchial hyper-responsiveness
Hum. Mol. Genet. 1996 5: 959-962; doi:10.1093/hmg/5.7.959 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MX Guan, N Fischel-Ghodsian, and G Attardi

Biochemical evidence for nuclear gene involvement in phenotype of non- syndromic deafness associated with mitochondrial 12S rRNA mutation
Hum. Mol. Genet. 1996 5: 963-971; doi:10.1093/hmg/5.7.963 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

U Lenk, K Oexle, T Voit, U Ancker, KA Hellner, A Speer, and C Hubner

A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave
Hum. Mol. Genet. 1996 5: 973-975; doi:10.1093/hmg/5.7.973 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Billuart, MC Vinet, V des Portes, S Llense, L Richard, ML Moutard, D Recan, T Bruls, T Bienvenu, A Kahn, C Beldjord, and J Chelly

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation
Hum. Mol. Genet. 1996 5: 977-979; doi:10.1093/hmg/5.7.977 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Warnich, MJ Kotze, IM Groenewald, JZ Groenewald, MG van Brakel, CJ van Heerden, JN de Villiers, WJ van de Ven, EF Schoenmakers, S Taketani, and AE Retief

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria
Hum. Mol. Genet. 1996 5: 981-984; doi:10.1093/hmg/5.7.981 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Sherrington, S Froelich, S Sorbi, D Campion, H Chi, EA Rogaeva, G Levesque, EI Rogaev, C Lin, Y Liang, M Ikeda, L Mar, A Brice, Y Agid, ME Percy, F Clerget- Darpoux, S Piacentini, G Marcon, B Nacmias, L Amaducci, T Frebourg, L Lannfelt, JM Rommens, and PH St George-Hyslop

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant
Hum. Mol. Genet. 1996 5: 985-988; doi:10.1093/hmg/5.7.985 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Takahara, T Ohsumi, J Kuromitsu, K Shibata, N Sasaki, Y Okazaki, H Shibata, S Sato, A Yoshiki, M Kusakabe, M Muramatsu, M Ueki, K Okuda, and Y Hayashizaki

Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon
Hum. Mol. Genet. 1996 5: 989-993; doi:10.1093/hmg/5.7.989 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Raben, RC Nichols, F Martiniuk, and PH Plotz

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II)
Hum. Mol. Genet. 1996 5: 995-1000; doi:10.1093/hmg/5.7.995 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Neri, V Albanese, AS Lebre, S Holbert, C Saada, L Bougueleret, S Meier-Ewert, I Le Gall, P Millasseau, H Bui, C Giudicelli, C Massart, S Guillou, P Gervy, E Poullier, P Rigault, J Weissenbach, G Lennon, I Chumakov, J Dausset, H Lehrach, D Cohen, and HM Cann

Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders
Hum. Mol. Genet. 1996 5: 1001-1009; doi:10.1093/hmg/5.7.1001 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Dupuis, A Leon-Del-Rio, D Leclerc, E Campeau, L Sweetman, JM Saudubray, G Herman, KM Gibson, and RA Gravel

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
Hum. Mol. Genet. 1996 5: 1011-1016; doi:10.1093/hmg/5.7.1011 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MF Arlt, TJ Herzog, DG Mutch, DJ Gersell, H Liu, and PJ Goodfellow

Frequent deletion of chromosome 1p sequences in an aggressive histologic subtype of endometrial cancer
Hum. Mol. Genet. 1996 5: 1017-1021; doi:10.1093/hmg/5.7.1017 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Ludecke, PM Knappskog, PT Clayton, RA Surtees, JD Clelland, SJ Heales, MP Brand, K Bartholome, and T Flatmark

Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
Hum. Mol. Genet. 1996 5: 1023-1028; doi:10.1093/hmg/5.7.1023 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Roewer, M Kayser, P Dieltjes, M Nagy, E Bakker, M Krawczak, and P de Knijff

Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations [published erratum appears in Hum Mol Genet 1997 May;6(5):828]
Hum. Mol. Genet. 1996 5: 1029-1033; doi:10.1093/hmg/5.7.1029 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Roepman, G van Duijnhoven, T Rosenberg, AJ Pinckers, LM Bleeker-Wagemakers, AA Bergen, J Post, A Beck, R Reinhardt, HH Ropers, FP Cremers, and W Berger

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1
Hum. Mol. Genet. 1996 5: 1035-1041; doi:10.1093/hmg/5.7.1035 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MC Speer, R Tandan, PN Rao, T Fries, JM Stajich, PA Bolhuis, GJ Jobsis, JM Vance, KD Viles, K Sheffield, C James, SG Kahler, M Pettenati, JR Gilbert, PH Denton, LH Yamaoka, and MA Pericak-Vance

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37
Hum. Mol. Genet. 1996 5: 1043-1046; doi:10.1093/hmg/5.7.1043 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EN Manolis, N Yandavi, JB Nadol, Jr, RD Eavey, M McKenna, S Rosenbaum, U Khetarpal, C Halpin, SN Merchant, GM Duyk, C MacRae, CE Seidman, and JG Seidman

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13
Hum. Mol. Genet. 1996 5: 1047-1050; doi:10.1093/hmg/5.7.1047 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Bolino, V Brancolini, F Bono, A Bruni, A Gambardella, G Romeo, A Quattrone, and M Devoto

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
Hum. Mol. Genet. 1996 5: 1051-1054; doi:10.1093/hmg/5.7.1051 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CY Gregory, K Evans, SD Wijesuriya, S Kermani, MR Jay, C Plant, N Cox, AC Bird, and SS Bhattacharya

The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16 [published erratum appears in Hum Mol Genet 1996 Sep;5(9):1390]
Hum. Mol. Genet. 1996 5: 1055-1059; doi:10.1093/hmg/5.7.1055 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Chaib, C Place, N Salem, C Dode, S Chardenoux, J Weissenbach, E el Zir, J Loiselet, and C Petit

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22
Hum. Mol. Genet. 1996 5: 1061-1064; doi:10.1093/hmg/5.7.1061 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Timmerman, P De Jonghe, S Simokovic, A Lofgren, J Beuten, E Nelis, C Ceuterick, JJ Martin, and C Van Broeckhoven

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24
Hum. Mol. Genet. 1996 5: 1065-1069; doi:10.1093/hmg/5.7.1065 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JL Davies, F Cucca, JV Goy, ZA Atta, ME Merriman, A Wilson, AH Barnett, SC Bain, and JA Todd

Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes
Hum. Mol. Genet. 1996 5: 1071-1074; doi:10.1093/hmg/5.7.1071 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Nistico, R Buzzetti, LE Pritchard, B Van der Auwera, C Giovannini, E Bosi, MT Larrad, MS Rios, CC Chow, CS Cockram, K Jacobs, C Mijovic, SC Bain, AH Barnett, CL Vandewalle, F Schuit, FK Gorus, R Tosi, P Pozzilli, and JA Todd

The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry
Hum. Mol. Genet. 1996 5: 1075-1080; doi:10.1093/hmg/5.7.1075 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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