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virtual library in human genetics and molecular biology

ARTICLES

A heterogeneous set of FMR1 proteins is widely distributed in mouse
tissues and is modulated in cell culture
E W Khandjian, A Fortin, A Thibodeau, S Tremblay,
F Cote, D Devys, J-L Mandel and F Rousseau P.783

A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional
repressors cloned from the DiGeorge syndrome critical region
V Lamour, Y Lecluse, C Desmaze, M Spector, M Bodescot,
A Aurias, M A Osley and M Lipinski P.791

Sex-specific meiotic recombination in the Prader-Willi/Angelman
syndrome imprinted region
W P Robinson and M Lalande P.801

Molecular features of the CAG repeats and clinical manifestation of
Machado-Joseph disease
H Maruyama, S Nakamura, Z Matsuyama, T Sakai, M Doyu,
G Sobue, M Seto, M Tsujihata, T Oh-i, T Nishio, N Sunohara,
R Takahashi, M Hayashi, I Nishino, T Ohtake, T Oda,
M Nishimura, T Saida, H Matsumoto, M Baba, Y Kawaguchi,
A Kakizuka and H Kawakami P.807

Reverse replication timing for the XIST gene in human fibroblasts
R S Hansen, T K Canfield, and S M Gartler P.813

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung
disease
M Angrist, S Bolk, B Thiel, E G Puffenberger, R M Hofstra,
C H C M Buys, D T Cass and A Chakravarti P.821


High resolution DNA Fiber-FISH for genomic DNA mapping and colour
bar-coding of large genes
R J Florijn, L A J Bonden, H Vrolijk, J Wiegant,
J-W Vaandrager, F Baas, J T den Dunnen, H J Tanke,
G-J B van Ommen and A K Raap P.831

A novel dystrophin isoform is required for normal retinal
electrophysiology
V N D'Souza, N thi Man, G E Morris, W Karges,
D-A M Pillers and P N Ray P.837

Structural organisation and developmental expression pattern of the
mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic
dystrophy locus
G Jansen, D Bachner, M Coerwinkel, N Wormskamp, H Hameister
and B Wieringa P.843

REPORTS

No evidence that common allelic variation in the Amyloid Precursor
Protein (APP) gene confers susceptibility to Alzheimer's disease
M B Liddell, A J Bayer and M J Owen P.853

The human Y chromosome homologue of XG: transcription of a naturally
truncated gene
P A Weller, R Critcher, P N Goodfellow, J German
and N A Ellis P.859


The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology
and is a site of chromosomal instability
A Klink, K Schiebel, M Winkelmann, E Rao, B Horsthemke,
H-J Ludecke, U Claussen, G Scherer and G Rappold P.869

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
B Glaser, K C Chiu, L Liu, R Anker, A Nestorowicz,
N J Cox, H Landau, N Kaiser, P S Thornton, C A Stanley,
E Cerasi, L Baker, H Donis-Keller and M A Permutt P.879

The distribution of linkage disequilibrium over anonymous genome
regions
A C Peterson, A Di Rienzo, A-E Lehesjoki, A de la Chappelle,
M Slatkin and N B Freimer P.887

Characterization of FMR1 proteins isolated from different tissues
C Verheij, E de Graff, C E Bakker, R Willemsen,
P J Willems, N Meijer, H Galjaard, A J J Reuser,
B A Oostra and A T Hoogeveen P.895

Human cell mutants with very low mitochondrial DNA copy number (rhod)
F Vaillant and P Nagley P.903

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous
system are differentially spliced in the 5' part of the gene
G Danglot, V Regnier, D Fauvet, G Vassal, M Kujas
and A Bernheim P.915

Mitochondrial DNA diversity in the Kuna Amerinds of Panama
O Batista, C J Kolman and E Bermingham P.921

Localization of a novel X-linked congenital stationary night
blindness locus: close linkage to the RP3 type retinitis pigmentosa
gene region
A A B Bergen, J B ten Brink, F Riemslag,
E J M Schuurman and N Tijmes P.931

Nucleotide sequence analysis of the apolipoprotein B 3' VNTR
D L Ellsworth, M D Shriver and E Boerwinkle P.937

A third locus for hereditary haemorrhagic telangiectasia maps to
chromosome 12q
P Vincent, H Plauchu, J Hazan, S Faure,
J Weissenbach and J Godet P.945

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)
P W Lunt, P E Jardine, M C Koch, J Maynard, M Osborn,
M Williams, P S Harper and M Upadhyaya P.951

A homozygous nonsense mutation in the alpha3 chain gene of laminin 5
(LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
S Kivirikko, J A McGrath, C Baudoin, D Aberdam,
S Ciatti, M G S Dunnill, J R McMillan, R A J Eady,
J-P Ortonne, G Meneguzzi, J Uitto and A M Christiano P.959

Definition of the blepharophimosis, ptosis, epicanthus inversus
syndrome critical region at chromosome 3q23 based on the analysis of
the chromosomal anomalies
C T Lawson, C Toomes, A Fryer, M J M Carette, G M Taylor,
Y Fukushima and M J Dixon P.963

MUTATION REPORT

Molecular analysis of type II 3beta-hydroxysteroid dehydrogenase gene
in Japanese patients with classical 3beta-hydroxysteroid
dehydrogenase deficiency
T Tajima, K Fujieda, J Nakae, N Shinohara,
M Yoshimoto, T Baba, E-i Kinoshita, Y Igarashi
and T Oomura P.969

Author index P.973

Human Molecular Genetics is a monthly journal of original
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