Human Molecular Genetics

ARTICLES:

C Moutou, MC Vincent, V Biancalana, and JL Mandel

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic
Hum. Mol. Genet. 1997 6: 971-979; doi:10.1093/hmg/6.7.971 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Yamaguchi, AG Motulsky, and SS Deeb

Visual pigment gene structure and expression in human retinae
Hum. Mol. Genet. 1997 6: 981-990; doi:10.1093/hmg/6.7.981 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EE Eichler, ML Budarf, M Rocchi, LL Deaven, NA Doggett, A Baldini, DL Nelson, and HW Mohrenweiser

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity
Hum. Mol. Genet. 1997 6: 991-1002; doi:10.1093/hmg/6.7.991 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Merriman, R Twells, M Merriman, I Eaves, R Cox, F Cucca, P McKinney, J Shield, D Baum, E Bosi, P Pozzilli, L Nistico, R Buzzetti, G Joner, K Ronningen, E Thorsby, D Undlien, F Pociot, J Nerup, S Bain, A Barnett, and J Todd

Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21
Hum. Mol. Genet. 1997 6: 1003-1010; doi:10.1093/hmg/6.7.1003 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Reed, F Cucca, S Jenkins, M Merriman, A Wilson, P McKinney, E Bosi, G Joner, K Ronningen, E Thorsby, D Undlien, T Merriman, A Barnett, S Bain, and J Todd

Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11
Hum. Mol. Genet. 1997 6: 1011-1016; doi:10.1093/hmg/6.7.1011 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Olives, M Merriman, P Bailly, S Bain, A Barnett, J Todd, JP Cartron, and T Merriman

The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility
Hum. Mol. Genet. 1997 6: 1017-1020; doi:10.1093/hmg/6.7.1017 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DY Li, AE Toland, BB Boak, DL Atkinson, GJ Ensing, CA Morris, and MT Keating

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis
Hum. Mol. Genet. 1997 6: 1021-1028; doi:10.1093/hmg/6.7.1021 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Tassabehji, K Metcalfe, D Donnai, J Hurst, W Reardon, M Burch, and AP Read

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis
Hum. Mol. Genet. 1997 6: 1029-1036; doi:10.1093/hmg/6.7.1029 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Grimes, CJ Hearn, P Lockhart, DF Newgreen, and JF Mercer

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease
Hum. Mol. Genet. 1997 6: 1037-1042; doi:10.1093/hmg/6.7.1037 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YM Kuo, J Gitschier, and S Packman

Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters
Hum. Mol. Genet. 1997 6: 1043-1049; doi:10.1093/hmg/6.7.1043 [Abstract] [FREE Full Text] [Request Permissions]  

ER Woodward, C Eng, R McMahon, R Voutilainen, NA Affara, BA Ponder, and ER Maher

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL
Hum. Mol. Genet. 1997 6: 1051-1056; doi:10.1093/hmg/6.7.1051 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CF Xu, MA Brown, H Nicolai, JA Chambers, BL Griffiths, and E Solomon

Isolation and characterisation of the NBR2 gene which lies head to head with the human BRCA1 gene
Hum. Mol. Genet. 1997 6: 1057-1062; doi:10.1093/hmg/6.7.1057 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Takiyama, K Sakoe, M Soutome, M Namekawa, T Ogawa, I Nakano, S Igarashi, M Oyake, H Tanaka, S Tsuji, and M Nishizawa

Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability
Hum. Mol. Genet. 1997 6: 1063-1068; doi:10.1093/hmg/6.7.1063 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Jay, I Sahly, C Goze, S Taviaux, F Poulat, G Couly, M Abitbol, and P Berta

SOX22 is a new member of the SOX gene family, mainly expressed in human nervous tissue
Hum. Mol. Genet. 1997 6: 1069-1077; doi:10.1093/hmg/6.7.1069 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Krebs, I Weis, M Hudler, JM Rommens, H Roth, SW Scherer, LC Tsui, EM Fuchtbauer, KH Grzeschik, K Tsuji, and J Kunz

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome
Hum. Mol. Genet. 1997 6: 1079-1086; doi:10.1093/hmg/6.7.1079 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MA Karim, DL Nagle, HH Kandil, J Burger, KJ Moore, and RA Spritz

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein
Hum. Mol. Genet. 1997 6: 1087-1089; doi:10.1093/hmg/6.7.1087 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MD Barbosa, FJ Barrat, VT Tchernev, QA Nguyen, VS Mishra, SD Colman, E Pastural, R Dufourcq-Lagelouse, A Fischer, RF Holcombe, MR Wallace, SJ Brandt, G de Saint Basile, and SF Kingsmore

Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse
Hum. Mol. Genet. 1997 6: 1091-1098; doi:10.1093/hmg/6.7.1091 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LH Puckey, RM Lawn, and BL Knight

Polymorphisms in the apolipoprotein(a) gene and their relationship to allele size and plasma lipoprotein(a) concentration
Hum. Mol. Genet. 1997 6: 1099-1107; doi:10.1093/hmg/6.7.1099 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Burwinkel, AJ Maichele, O Aagenaes, HD Bakker, A Lerner, YS Shin, JA Strachan, and MW Kilimann

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)
Hum. Mol. Genet. 1997 6: 1109-1115; doi:10.1093/hmg/6.7.1109 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CE Pearson, A Ewel, S Acharya, RA Fishel, and RR Sinden

Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
Hum. Mol. Genet. 1997 6: 1117-1123; doi:10.1093/hmg/6.7.1117 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JO Winberg, N Hammami-Hauasli, O Nilssen, I Anton-Lamprecht, SL Naylor, K Kerbacher, M Zimmermann, P Krajci, T Gedde-Dahl, Jr, and L Bruckner-Tuderman

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene
Hum. Mol. Genet. 1997 6: 1125-1135; doi:10.1093/hmg/6.7.1125 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Montini, EI Rugarli, E Van de Vosse, G Andolfi, M Mariani, AA Puca, GG Consalez, JT den Dunnen, A Ballabio, and B Franco

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin
Hum. Mol. Genet. 1997 6: 1137-1145; doi:10.1093/hmg/6.7.1137 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Dahl, M Pigg, E Ristoff, R Gali, B Carlsson, B Mannervik, A Larsson, and P Board

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction
Hum. Mol. Genet. 1997 6: 1147-1152; doi:10.1093/hmg/6.7.1147 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Rozmahel, K Gyomorey, S Plyte, V Nguyen, M Wilschanski, P Durie, CE Bear, and LC Tsui

Incomplete rescue of cystic fibrosis transmembrane conductance regulator deficient mice by the human CFTR cDNA
Hum. Mol. Genet. 1997 6: 1153-1162; doi:10.1093/hmg/6.7.1153 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SA Feather, AS Woolf, D Donnai, S Malcolm, and RM Winter

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3
Hum. Mol. Genet. 1997 6: 1163-1167; doi:10.1093/hmg/6.7.1163 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SK Agarwal, MB Kester, LV Debelenko, C Heppner, MR Emmert-Buck, MC Skarulis, JL Doppman, YS Kim, IA Lubensky, Z Zhuang, JS Green, SC Guru, P Manickam, SE Olufemi, LA Liotta, SC Chandrasekharappa, FS Collins, AM Spiegel, AL Burns, and SJ Marx

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states
Hum. Mol. Genet. 1997 6: 1169-1175; doi:10.1093/hmg/6.7.1169 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Lemmens, WJ Van de Ven, K Kas, CX Zhang, S Giraud, V Wautot, N Buisson, K De Witte, J Salandre, G Lenoir, M Pugeat, A Calender, F Parente, D Quincey, P Gaudray, MJ De Wit, CJ Lips, JW Hoppener, S Khodaei, AL Grant, G Weber, S Kytola, BT Teh, F Farnebo, and RV Thakker

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1
Hum. Mol. Genet. 1997 6: 1177-1183; doi:10.1093/hmg/6.7.1177 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Metzinger, DJ Blake, MV Squier, LV Anderson, AE Deconinck, R Nawrotzki, D Hilton-Jones, and KE Davies

Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy
Hum. Mol. Genet. 1997 6: 1185-1191; doi:10.1093/hmg/6.7.1185 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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