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virtual library in human genetics and molecular biology

ARTICLES

Y N Li, S Gulati, P J Baker, L C Brody, R Banerjee and W D Kruger

Cloning, mapping and RNA analysis of the human methionine synthase gene P. 1851


S Gulati, P Baker, Y N Li, B Fowler, W Kruger, L C Brody and R Banerjee

Defects in human methionine synthase in cblG patients P. 1859


D Leclerc, E Campeau, P Goyette, C E Adjalla, B Christensen, M Ross, P Eydoux, D S Rosenblatt, R Rozen and R A Gravel

Human methionine ynthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders P. 1867


J G Hodgson, D J Smith, K McCutcheon, H B Koide, K Nishiyama, M B Dinulos, M E Stevens, N Bissada, J Nasir, I Kanawawa, C M Disteche, E M Rubin and M R Hayden

Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype P.1875


G Stevanin, Y Trottier, G Cancel, A Durr, G David, O Didierjean, K Burk, G Imbert, F Saudou, M Abada-Bendib, I Gourfinkel-An, A Benomar, N Abbas, T Klockgether, D Grid, Y Agid, J-L Mandel and A Brice

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias P.1887


F Dutly and A Schinzel

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome P.1893


D J Picketts, D R Higgs, S Bachoo, D J Blake, O W J Quarrell and R J Gibbons

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome P.1899


REPORTS

J Oshima, C-E Yu, C Piussan, G Klein, J Jabkowski, S Balci, T Miki, J Nakura, T Ogihara, J Ells, M de A C Smith, M I Melaragno, M Fraccaro, S Scappaticci, J Matthews, S Ouais, A Jarzebowicz, G D Schellenberg and G M Martin

Homozygous and compound heterozygous mutations at the Werner syndrome locus P.1909


L Ma, S Golden, L Wu, and R Maxson

The molecular basis of Boston type craniosynostosis: the Pro148His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences P.1915


R J Scott, N J Froggatt, R C Trembath, D G R Evans, S V Hodgson and E R Maher

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation P.1921


Y S Hong, D S Kerr, W J Craigen, J Tan, Y Pan, M Lusk and M S Patel

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency P.1925


L Yuan, N Qian and B Tycko

An extended region of biallelic gene expression and rodent-human synteny downstream of the imprinted H19 gene on chromosone 11p15.5 P.1931


M W Kilpatrick, L A Phylactou, M Godfrey, C H Wu, G Y Wu and P Tsipouras

Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts P.1939


A Brinke, L Tagliavacca, J Naylor, P Green, P Giangrande and F Giannelli

Two chimaeric trancription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia P.1945


C G Bonnemann, M R Passos-Bueno, E M McNally, M Vainzof, E de Sa Moreira, S K Marie, R C M Pavanello, S Noguchi, E Ozawa, M Zatz and L M Kunkel

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) P.1953


M Vainzof, M R Passos-Bueno, M Canovas, E S Moreira, R C M Pavanello, S K Marie, L V B Anderson, C G Bonnemann, E M McNally, V Nigro, L M Kunkel and M Zatz

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies P.1963


C Brahe, O Clermont, S Zappata, F Tiziano, J Melki and G Neri

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I P.1971


X-Y Zhou, A van der Spoel, R Rottier, G Hale, R Willemsen, G T Berry, P Strisciuglio, G Andria and A d'Azzo

Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis P.1977


L W J Klomp and J D Gitlin

Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia P.1989


J C T van Deutekom, E Bakker, R J L F Lemmers, M J R van der Wielen, E Bik, M H Hofker, G W Padberg and R R Frants

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1 P.1997


Z Shan, P Hirschmann, T Seebacher, A Edelmann, A Jauch, J Morell, P Urbitsch and P H Vogt

A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad P.2005


P H Yen, N N Chai and E C Salido

The human autosomal gene DAZLA: testis specificity and a candidate for male infertility P.2013


F Piccolo, M Jeanpierre, F Leturcq, C Dode, K Azibi, A Toutain, L Merlini, L Jarre, C Navarro, R Krishnamoorthy, F M S Tome, J A Urtizberea, J S Beckmann, K P Campbell and J-C Kaplan

A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India P.2019


S M Ivanchuk, S M Myers, C Eng and L M Mulligan

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease P.2023


K W Brown, A J Villar, W Bickmore, J Clayton-Smith, D Catchpoole, E R Maher and W Reik

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway P.2027


S Gilad, A Bar-Shira, R Harnik, D Shkedy, Y Ziv, R Khosravi, K Brown, L Vanagaite, G Xu, M Frydman, M F Lavin, D Hill, D A Tagle and Y Shiloh

Ataxia telangiectasia: founder effect among North African Jews P.2033


D J Day, P W Speiser, E Schulze, M Bettendorf, J Fitness, F Barany and P C White

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees P.2039


LINKAGE REPORTS

M Maw, B Kar, J Biswas, P Biswas, D Nancarrow, R Bridges, G Kumaramanickavel, M Denton and S S Badrinath

Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p P.2049


J Tyson, S Bellman, V Newton, P Simpson, S Malcolm, M E Pembrey and M Bitner-Glindzicz

Mapping of DFN2 to Xq22 P.2055


A Weber, T F Wienker, M Jung, D Easton, H J Dean, C Heinrichs, A Reis and A J L Clark

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster P.2061

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

Copyright in the table of contents listed above is held by Oxford University Press, but you are welcome to circulate it further, provided that Oxford University Press is credited as publisher and copyright holder.

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