Human Molecular Genetics

ARTICLES:

V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, Y Trottier, SJ Kish, B Faucheux, P Trouillas, FJ Authier, A Durr, JL Mandel, A Vescovi, M Pandolfo, and M Koenig

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
Hum. Mol. Genet. 1997 6: 1771-1780; doi:10.1093/hmg/6.11.1771 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AS Fortin, DA Underhill, and P Gros

Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain
Hum. Mol. Genet. 1997 6: 1781-1790; doi:10.1093/hmg/6.11.1781 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Stoger, TM Kajimura, WT Brown, and CD Laird

Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1
Hum. Mol. Genet. 1997 6: 1791-1801; doi:10.1093/hmg/6.11.1791 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AH Huq, RS Lovell, CN Ou, AL Beaudet, and WJ Craigen

X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death
Hum. Mol. Genet. 1997 6: 1803-1809; doi:10.1093/hmg/6.11.1803 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JE Nielsen, P Koefoed, K Abell, L Hasholt, H Eiberg, K Fenger, E Niebuhr, and SA Sorensen

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24
Hum. Mol. Genet. 1997 6: 1811-1816; doi:10.1093/hmg/6.11.1811 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

U Fischer, D Heckel, A Michel, M Janka, T Hulsebos, and E Meese

Cloning of a novel transcription factor-like gene amplified in human glioma including astrocytoma grade I
Hum. Mol. Genet. 1997 6: 1817-1822; doi:10.1093/hmg/6.11.1817 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Struk, KH Neldner, VS Rao, P St Jean, and K Lindpaintner

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1
Hum. Mol. Genet. 1997 6: 1823-1828; doi:10.1093/hmg/6.11.1823 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Joehrer, S Geley, EM Strasser-Wozak, R Azziz, HA Wollmann, K Schmitt, R Kofler, and PC White

CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency
Hum. Mol. Genet. 1997 6: 1829-1834; doi:10.1093/hmg/6.11.1829 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Hofmann, M Jaksch, R Bezold, S Mertens, S Aholt, A Paprotta, and KD Gerbitz

Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease
Hum. Mol. Genet. 1997 6: 1835-1846; doi:10.1093/hmg/6.11.1835 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Roessler, E Belloni, K Gaudenz, F Vargas, SW Scherer, LC Tsui, and M Muenke

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
Hum. Mol. Genet. 1997 6: 1847-1853; doi:10.1093/hmg/6.11.1847 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TS Breschel, MG McInnis, RL Margolis, G Sirugo, B Corneliussen, SG Simpson, FJ McMahon, DF MacKinnon, JF Xu, N Pleasant, Y Huo, RG Ashworth, C Grundstrom, T Grundstrom, KK Kidd, JR DePaulo, and CA Ross

A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1
Hum. Mol. Genet. 1997 6: 1855-1863; doi:10.1093/hmg/6.11.1855 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MC Canfield, BK Tamarappoo, AM Moses, AS Verkman, and EJ Holtzman

Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response
Hum. Mol. Genet. 1997 6: 1865-1871; doi:10.1093/hmg/6.11.1865 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HR MacDonald and R Wevrick

The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
Hum. Mol. Genet. 1997 6: 1873-1878; doi:10.1093/hmg/6.11.1873 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JQ Huang, JM Trasler, S Igdoura, J Michaud, N Hanal, and RA Gravel

Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases
Hum. Mol. Genet. 1997 6: 1879-1885; doi:10.1093/hmg/6.11.1879 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Bouchard, L Perusse, YC Chagnon, C Warden, and D Ricquier

Linkage between markers in the vicinity of the uncoupling protein 2 gene and resting metabolic rate in humans
Hum. Mol. Genet. 1997 6: 1887-1889; doi:10.1093/hmg/6.11.1887 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NF Box, JR Wyeth, LE O'Gorman, NG Martin, and RA Sturm

Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair
Hum. Mol. Genet. 1997 6: 1891-1897; doi:10.1093/hmg/6.11.1891 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AL Delezoide, C Lasselin-Benoist, L Legeai-Mallet, P Brice, V Senee, A Yayon, A Munnich, M Vekemans, and J Bonaventure

Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses
Hum. Mol. Genet. 1997 6: 1899-1906; doi:10.1093/hmg/6.11.1899 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Lefebvre, S Viville, SC Barton, F Ishino, and MA Surani

Genomic structure and parent-of-origin-specific methylation of Peg1
Hum. Mol. Genet. 1997 6: 1907-1915; doi:10.1093/hmg/6.11.1907 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M D'Esposito, MR Matarazzo, A Ciccodicola, M Strazzullo, R Mazzarella, NA Quaderi, H Fujiwara, MS Ko, LB Rowe, A Ricco, N Archidiacono, M Rocchi, D Schlessinger, and M D'Urso

Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region
Hum. Mol. Genet. 1997 6: 1917-1923; doi:10.1093/hmg/6.11.1917 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Shani, G Jimenez-Sanchez, G Steel, M Dean, and D Valle

Identification of a fourth half ABC transporter in the human peroxisomal membrane
Hum. Mol. Genet. 1997 6: 1925-1931; doi:10.1093/hmg/6.11.1925 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DJ Lehmann, C Johnston, and AD Smith

Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease
Hum. Mol. Genet. 1997 6: 1933-1936; doi:10.1093/hmg/6.11.1933 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GJ Feldman, DE Ward, E Lajeunie-Renier, D Saavedra, NH Robin, V Proud, LJ Robb, V Der Kaloustian, JC Carey, MM Cohen, Jr, V Cormier, A Munnich, EH Zackai, AO Wilkie, RA Price, and M Muenke

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22
Hum. Mol. Genet. 1997 6: 1937-1941; doi:10.1093/hmg/6.11.1937 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Wollnik, BC Schroeder, C Kubisch, HD Esperer, P Wieacker, and TJ Jentsch

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias
Hum. Mol. Genet. 1997 6: 1943-1949; doi:10.1093/hmg/6.11.1943 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GA Carlson, DR Borchelt, A Dake, S Turner, V Danielson, JD Coffin, C Eckman, J Meiners, SP Nilsen, SG Younkin, and KK Hsiao

Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice
Hum. Mol. Genet. 1997 6: 1951-1959; doi:10.1093/hmg/6.11.1951 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Battaglia, A Princivalle, F Forti, C Lizier, and M Zeviani

Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
Hum. Mol. Genet. 1997 6: 1961-1971; doi:10.1093/hmg/6.11.1961 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Jodice, E Mantuano, L Veneziano, F Trettel, G Sabbadini, L Calandriello, A Francia, M Spadaro, F Pierelli, F Salvi, RA Ophoff, RR Frants, and M Frontali

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
Hum. Mol. Genet. 1997 6: 1973-1978; doi:10.1093/hmg/6.11.1973 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Wild, M Kalff-Suske, A Vortkamp, D Bornholdt, R Konig, and KH Grzeschik

Point mutations in human GLI3 cause Greig syndrome
Hum. Mol. Genet. 1997 6: 1979-1984; doi:10.1093/hmg/6.11.1979 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Schiebel, M Winkelmann, A Mertz, X Xu, DC Page, D Weil, C Petit, and GA Rappold

Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females
Hum. Mol. Genet. 1997 6: 1985-1989; doi:10.1093/hmg/6.11.1985 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MM Maheshwar, JP Cheadle, AC Jones, J Myring, AE Fryer, PC Harris, and JR Sampson

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis
Hum. Mol. Genet. 1997 6: 1991-1996; doi:10.1093/hmg/6.11.1991 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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