Human Molecular Genetics

ARTICLES:

M Wakamiya, EA Lindsay, JA Rivera-Perez, A Baldini, and RR Behringer

Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes
Hum. Mol. Genet. 1998 7: 1835-1840; doi:10.1093/hmg/7.12.1835 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Saint-Jore, A Puech, J Heyer, Q Lin, C Raine, R Kucherlapati, and AI Skoultchi

Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development
Hum. Mol. Genet. 1998 7: 1841-1849; doi:10.1093/hmg/7.12.1841 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HD Craig, M Gunel, O Cepeda, EW Johnson, L Ptacek, GK Steinberg, CS Ogilvy, MJ Berg, SC Crawford, RM Scott, E Steichen-Gersdorf, R Sabroe, CTC Kennedy, G Mettler, MJ Beis, A Fryer, IA Awad, and RP Lifton

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27
Hum. Mol. Genet. 1998 7: 1851-1858; doi:10.1093/hmg/7.12.1851 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Heckel, N Comtesse, N Brass, N Blin, KD Zang, and E Meese

Novel immunogenic antigen homologous to hyaluronidase in meningioma
Hum. Mol. Genet. 1998 7: 1859-1872. [Abstract] [Request Permissions]  

L Grimm, E Holinski-Feder, J Teodoridis, B Scheffer, D Schindelhauer, T Meitinger, and M Ueffing

Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products
Hum. Mol. Genet. 1998 7: 1873-1886; doi:10.1093/hmg/7.12.1873 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MJ Artiga, MJ Bullido, A Frank, I Sastre, M Recuero, MA Garcia, CL Lendon, SW Han, JC Morris, J Vazquez, A Goate, and F Valdivieso

Risk for Alzheimer's disease correlates with transcriptional activity of the APOE gene
Hum. Mol. Genet. 1998 7: 1887-1892; doi:10.1093/hmg/7.12.1887 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Kumar-Singh and DB Farber

Encapsidated adenovirus mini-chromosome-mediated delivery of genes to the retina: application to the rescue of photoreceptor degeneration
Hum. Mol. Genet. 1998 7: 1893-1900; doi:10.1093/hmg/7.12.1893 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G De Michele, F Cavalcanti, C Criscuolo, L Pianese, A Monticelli, A Filla, and S Cocozza

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia
Hum. Mol. Genet. 1998 7: 1901-1906; doi:10.1093/hmg/7.12.1901 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Houlston, S Bevan, A Williams, J Young, M Dunlop, P Rozen, C Eng, D Markie, K Woodford-Richens, MA Rodriguez-Bigas, B Leggett, K Neale, R Phillips, E Sheridan, S Hodgson, T Iwama, D Eccles, W Bodmer, and I Tomlinson

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases
Hum. Mol. Genet. 1998 7: 1907-1912; doi:10.1093/hmg/7.12.1907 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KK Goncz, K Kunzelmann, Z Xu, and DC Gruenert

Targeted replacement of normal and mutant CFTR sequences in human airway epithelial cells using DNA fragments
Hum. Mol. Genet. 1998 7: 1913-1919; doi:10.1093/hmg/7.12.1913 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AG Roberts, H Puy, TA Dailey, RR Morgan, SD Whatley, HA Dailey, P Martasek, Y Nordmann, JC Deybach, and GH Elder

Molecular characterization of homozygous variegate porphyria
Hum. Mol. Genet. 1998 7: 1921-1925; doi:10.1093/hmg/7.12.1921 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Burlet, C Huber, S Bertrandy, MA Ludosky, I Zwaenepoel, O Clermont, J Roume, AL Delezoide, J Cartaud, A Munnich, and S Lefebvre

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy
Hum. Mol. Genet. 1998 7: 1927-1933; doi:10.1093/hmg/7.12.1927 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Gunter, W Paradee, DC Crawford, KA Meadows, J Newman, CB Kunst, DL Nelson, C Schwartz, A Murray, JN Macpherson, SL Sherman, and ST Warren

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1
Hum. Mol. Genet. 1998 7: 1935-1946; doi:10.1093/hmg/7.12.1935 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ST Winokur and R Shiang

The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus
Hum. Mol. Genet. 1998 7: 1947-1952; doi:10.1093/hmg/7.12.1947 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Liao, RM Nitsch, SM Greenberg, U Finckh, D Blacker, M Albert, GW Rebeck, T Gomez-Isla, A Clatworthy, G Binetti, C Hock, T Mueller-Thomsen, U Mann, K Zuchowski, U Beisiegel, H Staehelin, JH Growdon, RE Tanzi, and BT Hyman

Genetic association of an alpha2-macroglobulin (Val1000lle) polymorphism and Alzheimer's disease
Hum. Mol. Genet. 1998 7: 1953-1956; doi:10.1093/hmg/7.12.1953 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YC Pham, N Man, LT Lam, and GE Morris

Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies
Hum. Mol. Genet. 1998 7: 1957-1965; doi:10.1093/hmg/7.12.1957 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MS Ko, TA Threat, X Wang, JH Horton, Y Cui, X Wang, E Pryor, J Paris, J Wells- Smith, JR Kitchen, LB Rowe, J Eppig, T Satoh, L Brant, H Fujiwara, S Yotsumoto, and H Nakashima

Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome
Hum. Mol. Genet. 1998 7: 1967-1978; doi:10.1093/hmg/7.12.1967 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AT Hark and SM Tilghman

Chromatin conformation of the H19 epigenetic mark
Hum. Mol. Genet. 1998 7: 1979-1985; doi:10.1093/hmg/7.12.1979 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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