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European Journal of Human Genetics

May 1999, Volume 7, Issue 4
Table of Contents

Journal Home
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Review

Testing tumors for microsatellite instability 407
Albert de la Chapelle
Abstract    Full Article (PDF)

Articles

Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications 409
Rita Santamaria, Luigi Vitagliano, Sonia Tamasi, Paola Izzo, Lucia Zancan, Adriana Zagari & Francesco Salvatore
Abstract    Full Article (PDF)

A case of discordance between genotype and phenotype in a malignant hyperthermia family 415
Giuliana Fortunato, Antonella Carsana, Nadia Tinto, Virginia Brancadoro, Giovanna Canfora & Francesco Salvatore
Abstract    Full Article (PDF)

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies 421
Maurizio Genuardi, Carla Tozzi, Maria Grazia Pomponi, Maria Letizia Stagni, Matteo Della Monica, Gioacchino Scarano, Fabrizio Calvieri, Loredana Torrisi & Giovanni Neri
Abstract    Full Article (PDF)

Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder 427
Geert R Verheyen, Sandra M Villafuerte, Jurgen Del-Favero, Daniel Souery, Julien Mendlewicz, Christine Van Broeckhoven & Peter Raeymaekers
Abstract    Full Article (PDF)

Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications 435
Partha P Majumder, Bidyut Roy, Sanat Banerjee, Madan Chakraborty, Badal Dey, Namita Mukherjee, Monami Roy, Piyali Guha Thakurta & Samir K Sil
Abstract    Full Article (PDF)

Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami 447
Päivi Lahermo, Marja-Liisa Savontaus, Pertti Sistonen, Judit Béres, Peter de Knijff, Pertti Aula & Antti Sajantila
Abstract    Full Article (PDF)

Analysis of mtDNA HVRII in several human populations using an immobilised SSO probe hybridisation assay 459
David Comas, Rebecca Reynolds & Antti Sajantila
Abstract    Full Article (PDF)

Reconstruction of a historical genealogy by means of STR analysis and Y-haplotyping of ancient DNA 469
Julia Gerstenberger, Susanne Hummel, Tobias Schultes, Bernhard Häck & Bernd Herrmann
Abstract    Full Article (PDF)

A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3 478
Tineke Timmer, Peter Terpstra, Anke van den Berg, Patrick MJF Veldhuis, Arja Ter Elst, Gerassimos Voutsinas, Miriam MF Hulsbeek, Tineke G Draaijers, Maaike WG Looman, Klaas Kok, Susan L Naylor & Charles HCM Buys
Abstract    Full Article (PDF)

Detailed transcript map of a 810-kb region at 11p14 involving identification of 10 novel human 3' exons 487
F Guillemot, C Auffray & MD Devignes
Abstract    Full Article (PDF)

Short Reports

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population 496
Annick Raas-Rothschild, Ruth Bargal, Sergio DellaPergola, Marcia Zeigler & Gideon Bach
Abstract    Full Article (PDF)

Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families 499
Sophie Laberge, Pierre Labauge, Emmanuelle Maréchal, Jacqueline Maciazek & Elisabeth Tournier-Lasserve
Abstract    Full Article (PDF)

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 505
Deborah L Stone, Otto P van Diggelen, Johannis BC de Klerk, Johannes LJ Gaillard, Martinus F Niermeijer, Rob Willemsen, Nahid Tayebi & Ellen Sidransky
Abstract    Full Article (PDF)

Meeting Report

A tale of tags: report on a HUGO/EU SAGE Workshop, 29 January-1 February 1999, Hilversum, The Netherlands 510
Frank Baas & Henk F. Tabak
Full Article (PDF)

Book Review

513
Rachel H Giles
Full Article (PDF)

Letter

Commentary: FISHing for the light at the ends of chromosomes 515
Ram S Verma & Michael J Macera
Full Article (PDF)

© Macmillan Publishers Ltd 1999

As part of one of the world's largest publishers, Stockton Press has a substantial list of leading international journals in the key areas of science and medicine. Specialist fields covered include: bone marrow transplantation, cell death and differentiation, critical care/intensive care, dentistry, dentomaxillofacial radiology, environmental epidemiology, gene therapy, hematology, human and experimental toxicology, exposure analysis, human hypertension, impotence research, industrial microbiology, industrial health, information systems, leukemia, lupus, microcirculation, molecular psychiatry, multiple sclerosis, neuroscience, nursing, nutrition, obesity, occupational medicine, oncology, oncology pharmacy practice, operations research, optometry and ophthalmology, oral diseases, orthopedics, paraplegia, perinatology, pharmacology, psychiatry, public health, spinal injury and disease.