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July 1997
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ISSN 1018-4813
EISSN 1476-5438
In this Issue
European Journal of Human Genetics 1997, Vol. 5, No. 4
Review
Mutations in Hirschsprung Disease: When Does a Mutation Contribute to the Phenotype
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (4): 180–185.
https://doi.org/10.1159/000484760
Editorial
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (4): 179.
https://doi.org/10.1159/000484759
Original Paper
A Number of Schizencephaly Patients Including 2 Brothers Are Heterozygous for Germline Mutations in the Homeobox Gene EMX2
Subject Area:
Genetics
Antonio Faiella; Silvia Brunelli; Tiziana Granata; Ludovico D'Incerti; Roldano Cardini; Carlo Lenti; Giorgio Battaglia; Edoardo Boncinelli
European Journal of Human Genetics (1997) 5 (4): 186–190.
https://doi.org/10.1159/000484761
Two New Mutations in the Glucose-6-Phosphatase Gene Cause Glycogen Storage Disease in Hungarian Patients
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (4): 191–195.
https://doi.org/10.1159/000484762
Relationship between Mutation Genotype and Biochemical Phenotype in a Heterogeneous Spanish Phenylketonuria Population
Subject Area:
Genetics
L.R. Desviat; B. Pérez; M. J. García; M. Martínez-Pardo; A. Baldellou; J. Arena; P. Sanjurjo; J. Campistol; M.L. Couce; A. Fernández; J. Cardesa; M. Ugarte
European Journal of Human Genetics (1997) 5 (4): 196–202.
https://doi.org/10.1159/000484763
Estimating Recessive Disease Allele Frequency Based on Genetic Maps
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (4): 203–205.
https://doi.org/10.1159/000484764
Refined Mapping of the Cohen Syndrome Gene by Linkage Disequilibrium
Subject Area:
Genetics
Juha Kolehmainen; Reijo Norio; Satu Kivitie-Kallio; Esa Tahvanainen; Albert de la Chapelle; Anna-Elina Lehesjoki
European Journal of Human Genetics (1997) 5 (4): 206–213.
https://doi.org/10.1159/000484765
Refined Subchromosomal Location of 21 Expressed Sequence Tags from Unknown Genes at Region 11p15
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (4): 214–217.
https://doi.org/10.1159/000484766
Three Novel Point Mutations in the Keratinocyte Transglutaminase (TGK) Gene in Lamellar Ichthyosis: Significance for Mutant Transcript Level, TGK Immunodetection and Activity
Subject Area:
Genetics
Elisabeth Petit; Marcel Huber; Ariane Rochat; Christine Bodemer; Dominique Teillac-Hamel; Jean-Pierre Müh; Jean Revuz; Yann Barrandon; Mark Lathrop; Yves de Prost; Daniel Hohl; Alain Hovnanian
European Journal of Human Genetics (1997) 5 (4): 218–228.
https://doi.org/10.1159/000484767
Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy
Subject Area:
Genetics
Katarina Pelin; Maaret Ridanpää; Kati Donner; Stephen Wilton; Janakan Krishnarajah; Nigel Laing; Bernhard Kolmerer; Stefania Millevoi; Siegfried Labeit; Albert de la Chapelle; Carina Wallgren-Pettersson
European Journal of Human Genetics (1997) 5 (4): 229–234.
https://doi.org/10.1159/000484768
Lack of Hemizygosity for the Insulin-Like Growth Factor I Receptor Gene in a Quantitative Study of 33 Silver Russell Syndrome Probands and Their Families
Subject Area:
Genetics
Sayeda Abu-Amero; Susan Price; Emma Wakeling; Philip Stanier; Richard Trembath; Michael A. Preece; Gudrun E. Moore
European Journal of Human Genetics (1997) 5 (4): 235–241.
https://doi.org/10.1159/000484769
BOR and BO Syndromes Are Allelic Defects of EYA1
Subject Area:
Genetics
Christophe Vincent; Vasiliki Kalatzis; Sonia Abdelhak; Hassan Chaïb; Sylvie Compain; Jocelyne Helias; François-Michel Vaneecloo; Christine Petit
European Journal of Human Genetics (1997) 5 (4): 242–246.
https://doi.org/10.1159/000484770
Short Report
Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease
Subject Area:
Genetics
Christelle Bidaud; Rémi Salomon; Guy Van Camp; Anna Pelet; Tania Attié; Charis Eng; Maryse Bonduelle; Jeanne Amiel; Claire Nihoul-Fékété; Patrick J. Willems; Arnold Munnich; Stanislas Lyonnet
European Journal of Human Genetics (1997) 5 (4): 247–251.
https://doi.org/10.1159/000484771
Announcements
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (4): 252.
https://doi.org/10.1159/000484772
