Human Molecular Genetics

ARTICLES:

YN Li, S Gulati, PJ Baker, LC Brody, R Banerjee, and WD Kruger

Cloning, mapping and RNA analysis of the human methionine synthase gene
Hum. Mol. Genet. 1996 5: 1851-1858; doi:10.1093/hmg/5.12.1851 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Gulati, P Baker, YN Li, B Fowler, W Kruger, LC Brody, and R Banerjee

Defects in human methionine synthase in cblG patients
Hum. Mol. Genet. 1996 5: 1859-1865; doi:10.1093/hmg/5.12.1859 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Leclerc, E Campeau, P Goyette, CE Adjalla, B Christensen, M Ross, P Eydoux, DS Rosenblatt, R Rozen, and RA Gravel

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
Hum. Mol. Genet. 1996 5: 1867-1874; doi:10.1093/hmg/5.12.1867 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JG Hodgson, DJ Smith, K McCutcheon, HB Koide, K Nishiyama, MB Dinulos, ME Stevens, N Bissada, J Nasir, I Kanazawa, CM Disteche, EM Rubin, and MR Hayden

Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype
Hum. Mol. Genet. 1996 5: 1875-1885; doi:10.1093/hmg/5.12.1875 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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, JL Mandel, and A Brice

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias
Hum. Mol. Genet. 1996 5: 1887-1892; doi:10.1093/hmg/5.12.1887 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Dutly and A Schinzel

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
Hum. Mol. Genet. 1996 5: 1893-1898; doi:10.1093/hmg/5.12.1893 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DJ Picketts, DR Higgs, S Bachoo, DJ Blake, OW Quarrell, and RJ Gibbons

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
Hum. Mol. Genet. 1996 5: 1899-1907; doi:10.1093/hmg/5.12.1899 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Oshima, CE Yu, C Piussan, G Klein, J Jabkowski, S Balci, T Miki, J Nakura, T Ogihara, J Ells, M Smith, MI Melaragno, M Fraccaro, S Scappaticci, J Matthews, S Ouais, A Jarzebowicz, GD Schellenberg, and GM Martin

Homozygous and compound heterozygous mutations at the Werner syndrome locus
Hum. Mol. Genet. 1996 5: 1909-1913; doi:10.1093/hmg/5.12.1909 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences
Hum. Mol. Genet. 1996 5: 1915-1920; doi:10.1093/hmg/5.12.1915 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RJ Scott, NJ Froggatt, RC Trembath, DG Evans, SV Hodgson, and ER Maher

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation
Hum. Mol. Genet. 1996 5: 1921-1924; doi:10.1093/hmg/5.12.1921 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YS Hong, DS Kerr, WJ Craigen, J Tan, Y Pan, M Lusk, and MS Patel

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency
Hum. Mol. Genet. 1996 5: 1925-1930; doi:10.1093/hmg/5.12.1925 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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 chromosome 11p15.5
Hum. Mol. Genet. 1996 5: 1931-1937; doi:10.1093/hmg/5.12.1931 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MW Kilpatrick, LA Phylactou, M Godfrey, CH Wu, GY Wu, and P Tsipouras

Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts
Hum. Mol. Genet. 1996 5: 1939-1944; doi:10.1093/hmg/5.12.1939 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Two chimaeric transcription 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
Hum. Mol. Genet. 1996 5: 1945-1951; doi:10.1093/hmg/5.12.1945 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CG Bonnemann, MR Passos-Bueno, EM McNally, M Vainzof, E de Sa Moreira, SK Marie, RC Pavanello, S Noguchi, E Ozawa, M Zatz, and LM Kunkel

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
Hum. Mol. Genet. 1996 5: 1953-1961; doi:10.1093/hmg/5.12.1953 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Vainzof, MR Passos-Bueno, M Canovas, ES Moreira, RC Pavanello, SK Marie, LV Anderson, CG Bonnemann, EM McNally, V Nigro, LM Kunkel, and M Zatz

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
Hum. Mol. Genet. 1996 5: 1963-1969; doi:10.1093/hmg/5.12.1963 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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
Hum. Mol. Genet. 1996 5: 1971-1976; doi:10.1093/hmg/5.12.1971 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

XY Zhou, A van der Spoel, R Rottier, G Hale, R Willemsen, GT Berry, P Strisciuglio, A Morrone, E Zammarchi, G Andria, and A d'Azzo

Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis [published erratum appears in Hum Mol Genet 1997 Jan;6(1):146]
Hum. Mol. Genet. 1996 5: 1977-1987; doi:10.1093/hmg/5.12.1977 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LW Klomp and JD Gitlin

Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia
Hum. Mol. Genet. 1996 5: 1989-1996; doi:10.1093/hmg/5.12.1989 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JC van Deutekom, E Bakker, RJ Lemmers, MJ van der Wielen, E Bik, MH Hofker, GW Padberg, and RR 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
Hum. Mol. Genet. 1996 5: 1997-2003; doi:10.1093/hmg/5.12.1997 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Z Shan, P Hirschmann, T Seebacher, A Edelmann, A Jauch, J Morell, P Urbitsch, and PH 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
Hum. Mol. Genet. 1996 5: 2005-2011; doi:10.1093/hmg/5.12.2005 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PH Yen, NN Chai, and EC Salido

The human autosomal gene DAZLA: testis specificity and a candidate for male infertility
Hum. Mol. Genet. 1996 5: 2013-2017; doi:10.1093/hmg/5.12.2013 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Piccolo, M Jeanpierre, F Leturcq, C Dode, K Azibi, A Toutain, L Merlini, L Jarre, C Navarro, R Krishnamoorthy, FM Tome, JA Urtizberea, JS Beckmann, KP Campbell, and JC Kaplan

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India
Hum. Mol. Genet. 1996 5: 2019-2022; doi:10.1093/hmg/5.12.2019 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SM Ivanchuk, SM Myers, C Eng, and LM Mulligan

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease
Hum. Mol. Genet. 1996 5: 2023-2026; doi:10.1093/hmg/5.12.2023 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KW Brown, AJ Villar, W Bickmore, J Clayton-Smith, D Catchpoole, ER Maher, and W Reik

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway
Hum. Mol. Genet. 1996 5: 2027-2032; doi:10.1093/hmg/5.12.2027 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Ataxia-telangiectasia: founder effect among north African Jews
Hum. Mol. Genet. 1996 5: 2033-2037; doi:10.1093/hmg/5.12.2033 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DJ Day, PW Speiser, E Schulze, M Bettendorf, J Fitness, F Barany, and PC White

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees
Hum. Mol. Genet. 1996 5: 2039-2048; doi:10.1093/hmg/5.12.2039 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
Hum. Mol. Genet. 1996 5: 2049-2054; doi:10.1093/hmg/5.12.2049 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Mapping of DFN2 to Xq22
Hum. Mol. Genet. 1996 5: 2055-2060; doi:10.1093/hmg/5.12.2055 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Weber, TF Wienker, M Jung, D Easton, HJ Dean, C Heinrichs, A Reis, and AJ Clark

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster
Hum. Mol. Genet. 1996 5: 2061-2066; doi:10.1093/hmg/5.12.2061 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

T Shirakawa, XQ Mao, S Sasaki, T Enomoto, M Kawai, K Morimoto, and J Hopkin

Association between atopic asthma and a coding variant of Fc epsilon RI beta in a Japanese population
Hum. Mol. Genet. 1996 5: 2068. [Request Permissions]  

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