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Editorial |
| 2000: promises and plans |
1 |
| Gert-Jan B van Ommen
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Full Article (PDF)
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Announcement |
| Publisher's announcement |
2 |
| Jayne Marks
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Full Article (PDF)
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Letter |
| Formal recognition of the speciality of Medical Genetics in Portugal |
3 |
| Rodney Harris,
Joao Paulo Oliveira & Heloisa G Santos
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Full Article (PDF)
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Review |
| Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology |
4 |
| Giovanni Stevanin,
Alexandra Dürr & Alexis Brice
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Abstract
Full Article (PDF)
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Articles |
| High carrier frequency of the 35delG deafness mutation in European populations |
19 |
| Paolo Gasparini,
Raquel Rabionet,
Guido Barbujani,
Salvatore Melchionda,
Michael Petersen,
Karen Brøndum-Nielsen,
Andres Metspalu,
Eneli Oitmaa,
Marina Pisano,
Paolo Fortina,
Leopoldo Zelante,
Xavier Estivill & the Genetic Analysis Consortium of GJB2 35delG
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Abstract
Full Article (PDF)
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| Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses |
24 |
| Carol Dobson-Stone,
Roger D Cox,
Lorne Lonie,
Lorraine Southam,
Maria Fraser,
Carol Wise,
François Bernier,
Shirley Hodgson,
Daniel E Porter,
A Hamish RW Simpson & Anthony P Monaco
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Abstract
Full Article (PDF)
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| A linkage disequilibrium map of the MHC region based on the analysis of 14 loci haplotypes in 50 French families |
33 |
| Alicia Sanchez-Mazas,
Sami Djoulah,
Marc Busson,
Isabelle Le Monnier de Gouville,
Jean-Claude Poirier,
Catherine Dehay,
Dominique Charron,
Laurent Excoffier,
Stefan Schneider,
André Langaney,
Jean Dausset & Jacques Hors
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Abstract
Full Article (PDF)
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| APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients |
42 |
| Xia Cao,
Kong Weng Eu,
Francis Seow-Choen,
Yi Zao & Peh Yean Cheah
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Abstract
Full Article (PDF)
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| Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach |
49 |
| Paulo Fidalgo,
Maria Rosario Almeida,
Sarah West,
Claudia Gaspar,
Lara Maia,
Juul Wijnen,
Cristina Albuquerque,
Ann Curtis,
Marilia Cravo,
Riccardo Fodde,
C Nobre Leitao & John Burn
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Abstract
Full Article (PDF)
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| Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome |
54 |
| Simone Schiller,
Stephanie Spranger,
Birgit Schechinger,
Maki Fukami,
Sabine Merker,
Stenvert LS Drop,
Jochen Tröger,
Hans Knoblauch,
Jürgen Kunze,
Jörg Seidel & Gudrun A Rappold
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Abstract
Full Article (PDF)
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| Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements |
63 |
| Sabrina Giglio,
Barbara Pirola,
Giulia Arrigo,
Paolo Dagrada,
Barbara Bardoni,
Franca Bernardi,
Giovanni Russo,
Luisa Argentiero,
Antonino Forabosco,
Romeo Carrozzo & Orsetta Zuffardi
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Abstract
Full Article (PDF)
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Short Reports |
| Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25 |
71 |
| Farideh Mirzayans,
Douglas B Gould,
E Héon,
Gail D Billingsley,
Jason C Cheung,
Alan J Mears & Michael A Walter
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Abstract
Full Article (PDF)
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| Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes |
75 |
| Sanbing Shen,
Sharon Battersby,
Molly Weaver,
Elma Clark,
Karen Stephens & Anthony J Harmar
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Abstract
Full Article (PDF)
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