Human Molecular Genetics

ARTICLES:

Edouard W. Khandjian, Fortin Anny, Alain Thibodeau, Sandra Tremblay, France Côt{acute}, Didier Devys, Jean-Louis Mandel, and François Rousseau

A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture
Hum. Mol. Genet. 1995 4: 783-789; doi:10.1093/hmg/4.5.783 [Abstract] [PDF] [Request Permissions]  

Valé Lamour, Yann Lécluse, Chantal Desmaze, Mono Spector, Myriam Bodescot, Alain Aurias, Mary Ann Osley, and Marc Lipinski

A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region
Hum. Mol. Genet. 1995 4: 791-799; doi:10.1093/hmg/4.5.791 [Abstract] [PDF] [Request Permissions]  

Wendy P. Robinson and Marc Lalande

Sex-specific meiotic recombination in the Prader—Willi/Angelman syndrome imprinted region
Hum. Mol. Genet. 1995 4: 801-806; doi:10.1093/hmg/4.5.801 [Abstract] [PDF] [Request Permissions]  

Hirofumi Maruyama, Shigenobu Nakamura, Zenjiro Matsuyama, Tetsuo Sakai, Manabu Doyu, Gen Sobue, Makiko Seto, Mitsuhiro Tsujihata, Takekazu Oh-i, Takeshi Nishio, Nobuhiko Sunohara, Ryosuke Takahashi, Michiyuki Hayashi, Ichizo Nishino, Toshiyuki Ohtake, Tatsuro Oda, Masataka Nishimura, Takahiko Saida, Hiroyuki Matsumoto, Masayuki Baba, Yoshiya Kawaguchi, Akira Kakizuka, and Hideshi Kawakami

Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
Hum. Mol. Genet. 1995 4: 807-812; doi:10.1093/hmg/4.5.807 [Abstract] [PDF] [Request Permissions]  

Misha Angrist, Stacey Bolk, Bonnie Thiel, Erik G. Puffenberger, Robert M. Hofstra, Charles H.C.M. Buys, Daniel T. Cass, and Aravinda Chakravarti

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
Hum. Mol. Genet. 1995 4: 821-830; doi:10.1093/hmg/4.5.821 [Abstract] [PDF] [Request Permissions]  

Ralpha J. Florijn, A. J. Bonden, Hans Vrolijk, Joop Wiegant, Jan-Willem Vaandrager, Frank Bass, Johan T. den Dunnen, Hans J. Tanke, Gert-Jan B. van Ommen, and Anton K. Raap

High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes
Hum. Mol. Genet. 1995 4: 831-836; doi:10.1093/hmg/4.5.831 [Abstract] [PDF] [Request Permissions]  

Vinita N. D'Souza, Nguyen thi Man, Glenn E. Morris, Wolfram Karges, De-Ann M. Pillers, and Peter N. Ray

A novel dystrophin isoform is required for normal retinal electrophysiology
Hum. Mol. Genet. 1995 4: 837-842; doi:10.1093/hmg/4.5.837 [Abstract] [PDF] [Request Permissions]  

Gert Jansen, Dietmar B{diaeresis}chner, Marga Coerwinkel, Nicole Wormskamp, Horst Hameister, and Bé Wieringa

Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus
Hum. Mol. Genet. 1995 4: 843-852; doi:10.1093/hmg/4.5.843 [Abstract] [PDF] [Request Permissions]  

REPORTS:

Malcolm B. Liddell, A.J. Bayer, and Michael J. Owen

No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease
Hum. Mol. Genet. 1995 4: 853-858; doi:10.1093/hmg/4.5.853 [Abstract] [PDF] [Request Permissions]  

Polly A. Weller, Ricky Critcher, Peter N. Goodfellow, James German, and Nathan A. Ellis

The human Y chromosome homologue of XG: transcription of a naturally truncated gene
Hum. Mol. Genet. 1995 4: 859-868; doi:10.1093/hmg/4.5.859 [Abstract] [PDF] [Request Permissions]  

Albrecht Klink, Katrin Schiebel, Martina Winkelmann, Ercole Rao, Bernhard Horsthemke, Hermann-Joset Lüdecke, Uwe Claussen, Gerd Scherer, and Gudrun Rappold

The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability
Hum. Mol. Genet. 1995 4: 869-878; doi:10.1093/hmg/4.5.869 [Abstract] [PDF] [Request Permissions]  

Benjamin Glaser, Ken C. Chiu, Li Liu, Roberto Anker, Ann Nestorowicz, Nancy J. Cox, Heddy Landau, Kalser Nurit, Paul S. Thornton, Charles A. Stanley, Erol Cerasl, Lester Baker, Helen Donis-Keller, and M.Alan Permutt

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews
Hum. Mol. Genet. 1995 4: 879-886; doi:10.1093/hmg/4.5.879 [Abstract] [PDF] [Request Permissions]  

Amy C. Peterson, Anna Di Rienzo, Anna-Elina Lehesjokl, Albert de la Chaelle, Montgomery Slatkin, and Nelson B. Frelmer

The distribution of linkage disequilibrium over anonymous genome regions
Hum. Mol. Genet. 1995 4: 887-894; doi:10.1093/hmg/4.5.887 [Abstract] [PDF] [Request Permissions]  

Coleta Verhell, Esther de Graaff Graaff, Cathy E. Bakker, Rob Willemsen, Patric J. Willems, Nicolle Meijer, Hans Galjaard, Arnold J.J. Reuser, Ben A. Oostra, and André Hoogeveen

Characterization of FMR1 proteins isolated from different tissues
Hum. Mol. Genet. 1995 4: 895-901; doi:10.1093/hmg/4.5.895 [Abstract] [PDF] [Request Permissions]  

François Vaillant and Phillip Nagley

Human cell mutants with very low mitochondrial DNA copy number (^d)
Hum. Mol. Genet. 1995 4: 903-914; doi:10.1093/hmg/4.5.903 [Abstract] [PDF] [Request Permissions]  

Glséle Danglot, Vinclane Régnler, Didier Fauvet, Gilles Vassal, Michéle Kujas, and Alain Bernheim

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene
Hum. Mol. Genet. 1995 4: 915-920; doi:10.1093/hmg/4.5.915 [Abstract] [PDF] [Request Permissions]  

Oriana Batista, Connie J. Kolman, and Eldredge Bermlngham

Mitochondrial DNA diversity in the Kuna Amerinds of Panamá
Hum. Mol. Genet. 1995 4: 921-929; doi:10.1093/hmg/4.5.921 [Abstract] [PDF] [Request Permissions]  

Arthur A.B. Bergen, Jacoline B.ten Brink, Frans Riemslag, Ellen J.M. Schuurman, and Nel Tijmes

Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region
Hum. Mol. Genet. 1995 4: 931-935; doi:10.1093/hmg/4.5.931 [Abstract] [PDF] [Request Permissions]  

Darrell L. Ellsworth, Mark D. Shriver, and Eric Boerwinkle

Nucleotide sequence analysis of the apolipoprotein B 3' VNTR
Hum. Mol. Genet. 1995 4: 937-944; doi:10.1093/hmg/4.5.937 [Abstract] [PDF] [Request Permissions]  

P. Vincent, H. Plauchu, J. Hazan, S. Fauré, J. Weissenbach, and J. Godet

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q
Hum. Mol. Genet. 1995 4: 945-949; doi:10.1093/hmg/4.5.945 [Abstract] [PDF] [Request Permissions]  

Peter W. Lunt, Phillp E. Jardine, Manuela C. Koch, Julie Maynard, Michael Osborn, Maggie Williams, Peter S. Harper, and Meena Upadhyaya

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
Hum. Mol. Genet. 1995 4: 951-958; doi:10.1093/hmg/4.5.951 [Abstract] [PDF] [Request Permissions]  

Sirpa Kivirikko, A.Mc McGrath, Christian Baudoin, Daniel Aberdam, Sabatino Clatti, M. Giles Dunnill, James R. McMillan, Robin A.J. Eady, Jean-Paul Ortonne, Guerrino Meneguzzl, Jouni Ultto, and Angela M. Christiano

A homozygous nonsense mutation in the 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
Hum. Mol. Genet. 1995 4: 959-962; doi:10.1093/hmg/4.5.959 [Abstract] [PDF] [Request Permissions]  

Claire T. Lawson, Carmel Toomes, Alan Fryer, Martin J.M. Carette, G.Malcolm Taylor, Yoshimitsu Fukushima, and Michael J. Dixon

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies
Hum. Mol. Genet. 1995 4: 963-967; doi:10.1093/hmg/4.5.963 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORT:

Toshihiro Tajima, Kenji Fujieda, Jun Nakae, Nozomi Shinohara, Masaaki Yoshimoto, Tuneyoshi Baba, Ei-ichi Kinoshita, Yutaka Igarashl, and Tutomu Oomura

Molecular analysis of type II 3ß-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3ß-hydroxysteroid dehydrogenase deficiency
Hum. Mol. Genet. 1995 4: 969-971; doi:10.1093/hmg/4.5.969 [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1995 4: 973; doi:10.1093/hmg/4.5.973 [PDF] [Request Permissions]  

Corrigenda:

L. Borish, J.J. Mascali, M. Klinnert, M. Leppert, and L.J. Rosenwasser

CORRIGENDUM: SSC polymorphisms in interleukin genes
Hum. Mol. Genet. 1995 4: 974; doi:10.1093/hmg/4.5.974 [Abstract] [PDF] [Request Permissions]  

K. Kobayashi, K. Mizuno, A. Hida, R. Komaki, K. Tomita, I. Matsushita, M. Namiki, T. Iwamoto, S. Tamura, S. Minowada, Y. Nakahori, and Y. Nakagome

CORRIGENDUM: PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis
Hum. Mol. Genet. 1995 4: 974; doi:10.1093/hmg/4.5.974-a [Abstract] [PDF] [Request Permissions]  

ERRATUM:

H. Telenius, E. Almqvist, B. Kremer, N. Spence, F. Squitieri, K. Nichol, U. Grandell, E. Starr, C. Benjamin, I. Castaldo, O. Calabrese, M. Anvret, Y.P. Goldberg, and M.R. Hayden

ERRATUM: Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease
Hum. Mol. Genet. 1995 4: 974; doi:10.1093/hmg/4.5.974-b [Abstract] [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.