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News |
| Chinese amend policy on sterilisation for genetic reasons |
533 |
| Marcus Pembrey & Ségolène Aymé
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Full Article (PDF)
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Original Papers |
| Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2) |
534 |
| G De Benedictis,
L Carotenuto,
G Carrieri,
M De Luca,
E Falcone,
G Rose,
S Cavalcanti,
F Corsonello,
E Feraco,
G Baggio,
S Bertolini,
D Mari,
R Mattace,
AI Yashin,
M Bonafè & C Franceschi
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Abstract
Full Article (PDF)
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| Genetic linkage of Meleda disease to chromosome 8qter |
542 |
| Judith Fischer,
Bakar Bouadjar,
Roland Heilig,
Cécile Fizames,
Jean-François Prud'homme & Jean Weissenbach
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Abstract
Full Article (PDF)
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| Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness |
548 |
| Mirna Mustapha,
Nabiha Salem,
Dominique Weil,
Elie El-Zir,
Jacques Loiselet & Christine Petit
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Abstract
Full Article (PDF)
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| Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human |
552 |
| Anna K Naumova,
Leonard Olien,
Lynne M Bird,
Mark Smith,
Andrei E Verner,
Mark Leppert,
Kenneth Morgan & Carmen Sapienza
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Abstract
Full Article (PDF)
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| Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation |
563 |
| Satoko Abe,
Shin-ichi Usami,
Hideichi Shinkawa,
Mike D Weston,
Larry D Overbeck,
Denise M Hoover,
Judy B Kenyon,
Satoshi Horai & William J Kimberling
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Abstract
Full Article (PDF)
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| X-linked ocular albinism: prevalence and mutations - a national study |
570 |
| Thomas Rosenberg & Marianne Schwartz
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Abstract
Full Article (PDF)
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| Germline mosaicism in Coffin-Lowry syndrome |
578 |
| Sylvie Jacquot,
Karine Merienne,
Solange Pannetier,
Sandra Blumenfeld,
Albert Schinzel & André Hanauer
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Abstract
Full Article (PDF)
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| Polymorphism at the tetranucleotide repeat locus DYS389 in 10 populations reveals strong geographic clustering |
583 |
| Burkhard Rolf,
Eckhard Meyer,
Bernd Brinkmann & Peter de Knijff
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Abstract
Full Article (PDF)
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| Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway |
589 |
| Maritta Pigg,
Tobias Gedde-Dahl Jr,
Diane Cox,
Ingrid Haußer,
Ingrun Anton-Lamprecht & Niklas Dahl
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Abstract
Full Article (PDF)
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| Different ancestor alleles: a reason for the bimodal fragment size distribution in the minisatellite D2S44 (YNH24) |
597 |
| G Holmlund & B Lindblom
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Abstract
Full Article (PDF)
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| Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families |
603 |
| Cecilia Bjursell,
Jan Wahlström,
Kerstin Berg,
Helena Stibler,
Bengt Kristiansson,
Gert Matthijs & Tommy Martinsson
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Abstract
Full Article (PDF)
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Short Reports |
| Genetic homogeneity of lysinuric protein intolerance |
612 |
| Tuija Lauteala,
Juha Mykkänen,
Maria Pia Sperandeo,
Paolo Gasparini,
Marja-Liisa Savontaus,
Olli Simell,
Generoso Andria,
Gianfranco Sebastio & Pentti Aula
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Abstract
Full Article (PDF)
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| His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype |
616 |
| Duc Ha-Hao,
Harald Hefter,
Wolfgang Stremmel,
Carlos Castañeda-Guillot,
Ana Hernández Hernández,
Diane W Cox & Georg Auburger
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Abstract
Full Article (PDF)
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| Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease |
624 |
| C Wijmenga,
T Müller,
IS Murli,
T Brunt,
H Feichtinger,
D Schönitzer,
RHJ Houwen,
W Müller,
LA Sandkuijl & PL Pearson
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Abstract
Full Article (PDF)
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| Exclusion of the SCN2B gene as candidate for CMT4B |
629 |
| Alessandra Bolino,
Marco Seri,
Francesco Caroli,
James Eubanks,
Jayashree Srinivasan,
Paola Mandich,
Angelo Schenone,
Aldo Quattrone,
Giovanni Romeo,
William A Catterall & Marcella Devoto
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Abstract
Full Article (PDF)
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| A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing |
635 |
| Oshrat Propheta,
Nurit Magal,
Mordechai Shohat,
Nurit Eyal,
Nir Navot & Miri Horowitz
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Abstract
Full Article (PDF)
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| Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP) |
638 |
| Cyril Broccardo,
Nathalie Troffer-Charlier,
Stephane Savary,
Jean Louis Mandel & Giovanna Chimini
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Abstract
Full Article (PDF)
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| Fibulin-2 exhibits high degree of variability, but no structural changes concordant with abdominal aortic aneurysms |
642 |
| Helena Kuivaniemi,
Andrew Marshall,
Arupa Ganguly,
Mon-Li Chu,
William M Abbott & Gerard Tromp
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Abstract
Full Article (PDF)
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Author Index |
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647 |
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Full Article (PDF)
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Keyword Index |
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650 |
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Full Article (PDF)
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