home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
 
  HUM-MOLGEN -> Journals -> Human Molecular Genetics

Search  -  prev / next

 
  Human Molecular Genetics: July 1996 (Volume 5, No 7)  
  June 20, 1996

virtual library in human genetics and molecular biology

 
     
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA


Oxford University Press
  Date of publishing: June, 1996  
  ISSN 1964-6906


Commentary

J S Beckmann
Genetic studies and molecular structures: the dystrophin associated complex
P.865

Articles

D J Elliott, K Ma, S M Kerr, R Thakrar, R Speed, A C Chandley and H Cooke
An RBM homologue maps to the mouse Y chromosome and is expressed in germ cells
P. 869

M E Moynahan, E Akgun and M Jasin
A model for testing recombinogenic sequences in the mouse germline
P. 875

S M van der Maarel, I H J M Scholten, I Huber, C Philippe, R F Suijkerbuijk, S Gilgenkrantz, J Kere, F P M Cremers and H-H Ropers
Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1
P. 887

E E Eichler, F Lu, Y Shen, R Antonacci, V Jurecic, N A Doggett, R K Moyzis, A Baldini, R A Gibbs and D L Nelson
Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution
P. 899

R Kumar-Singh and J S Chamberlain
Encapsidated adenovirus minichromosomes allow delivery and expression of a 14 kb dystrophin cDNA to muscle cells
P. 913

S Igarashi, Y Takiyama, G Cancel, E A Rogaeva, H Sasaki, A Wakisaka, Y-X Zhou, H Takano, K Endo, K Sanpei, M. Oyake, H Tanaka, G Stevanin, N Abbas, A Durr, E I Rogaev, R Sherrington, T Tsuda, M Ikeda, E Cassa, M Nishizawa, A Benomar, J Julien, J Weissenbach, G-X Wang, Y Agid, P H St. George-Hyslop, A Brice 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
P. 923

P H Vogt, A Edelmann, S Kirsch, O Henegariu, P Hirschmann, F Kiesewetter, F M Koehn, W B Schill, S Farah, C Ramos, M Hartmann, W Hartschuh, D Meschede, H M Behre, A Castel, E Nieschlag, W Weidner, H-J Groene, A Jung, W Engel and G Haidl
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
P. 933

A N Akarsu, I Stoilov, E Yilmaz, B S Sayli and M Sarfarazi
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families
P. 945

Reports

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
P. 953

M R Hill and W O C M 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
P. 959

M-X 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
P. 963

U Lenk, K Oexle, T Voit, U Ancker, K-A Hellner, A Speer and C Huebner
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
P. 973

P Billuart, M C Vinet, V des Portes, S Llense, L Richard, M L Moutard, D Recan, T Bruels, 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
P. 977

L Warnich, M J Kotze, I M Groenewald, J Z Groenewald, M G van Brakel, C J van Heerden, J N P de Villiers, W J M van de Ven, E F P M Shoenmakers, S Taketani and A E Retief
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria
P. 981

R Sherrington, S Froelich, S Sorbi, D Campion, H Chi, E A Rogaeva, G Levesque, E I Rogaev, C Lin, Y Liang, M Ikeda, L Mar, A Brice, Y Agid, M E Percy, F Clerget-Darpoux, S Piacentini, G Marcon, B Nacmias, L Amaducci, T Frebourg, L Lannfelt, J M Rommens and P H St George-Hyslop
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant
P. 985

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
P. 989

N Raben, R C Nichols, F Martiniuk and P H Plotz
A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II)
P. 995

C Neri, V Albanese, A-S 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 H M Cann
Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders
P. 1001

L Dupuis, A Leon-Del-Rio, D Leclerc, E Campeau, L Sweetman, J-M Saudubray, G Herman, K M Gibson and R A Gravel
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
P. 1011

M F Arlt, T J Herzog, D G Mutch, D J Gersell, H Liu and P J Goodfellow
Frequent deletion of chromosome 1p sequences in an aggressive histologic subtype of endometrial cancer
P. 1017

B Ludecke, P M Knappskog, P T Clayton, R A H Surtees, J D Clelland, S J R Heales, M P 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
P. 1023

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
P. 1029

R Roepman, G van Duijnhoven, T Rosenberg, A J L G Pinckers, L M Bleeker-Wagemakers, A A B Bergen J Post, A Beck, R Reinhardt, H-H Ropers, F P M Cremers and W Berger
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1
P. 1035

Linkage Reports

M C Speer, R Tandan, P N Rao, T Fries, J M Stajich, P A Bolhuis, G J Jobsis, J M Vance, K D Viles, K Sheffield, C James, S G Kahler, M Pettenati, J R Gilbert, P H Denton, L H Yamaoka and M A Pericak-Vance
Evidence for locus heterogeneity in the Bethlem myopathyand linkage to 2q37
P. 1043

E N Manolis, N Yandavi, J B Nadol Jr, R D Eavey, M McKenna, S Rosenbaum, U Khetarpal, C Halpin, S N Merchant, G M Duyk, C MacRae, C E Seidman and J G Seidman
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13
P. 1047

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
P. 1051

C Y Gregory, K Evans, S D Wijesuriya, S Kermani, M R Jay, C Plant, N Cox, A C Bird and S S Bhattacharya
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16
P. 1055

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
P. 1061

V Timmerman, P de Jonghe, S Simokovic, A Lofgren, J Beuten, E Nelis, C Ceuterick, J-J Martin and C van Broeckhoven
Distal hereditary motor neuropathy type II (distal HMN II): maping of a locus to chromosome 12q24
P. 1065

J L Davies, F Cucca, J V Goy, Z A A Atta, M E Merriman, A Wilson, A H Barnett, S C Bain and J A Todd
Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes P. 1071

L Nistico, R Buzzetti, L E Pritchard, B Van der Auwera, C Giovannini, E Bosi, M T M Larrad, M Serrano Rios, C C Chow, C S Cockram, K Jacobs, C Mijovic, S C Bain, A H Barnett, C L Vandewalle, F Schuit, F K Gorus, Belgian Diabetes Registry, R Tosi, P Pozzilli and J A Todd
The CLTA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes
P. 1075

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 July 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 June 1996.

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.

 
     
For further information please contact: Richard Gedye
Oxford University Press

Walton Street
Oxford, OX2 6DP, United Kingdom
  Posted by:   Richard Gedye (Zollmann)  
Host: info2.uni-rostock.de
   
 
home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
 
 
 

Generated by documents 5.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability and Copyright.