Genetics

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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

Sayeda Abu-Amero; Susan Price; Emma Wakeling; Philip Stanier; Richard Trembath; Michael A. Preece; Gudrun E. Moore

https://doi.org/10.1159/000484769

Mutations in Hirschsprung Disease: When Does a Mutation Contribute to the Phenotype

Robert M.W. Hofstra; Jan Osinga; Charles H.C.M. Buys

https://doi.org/10.1159/000484760

Refined Subchromosomal Location of 21 Expressed Sequence Tags from Unknown Genes at Region 11p15

Christine Schwienbacher; Silvia Sabbioni; Giuseppe Barbanti-Brodano; Massimo Negrini

https://doi.org/10.1159/000484766

Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease

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

https://doi.org/10.1159/000484771

Estimating Recessive Disease Allele Frequency Based on Genetic Maps

Fatemeh Haghighi; Jurg Ott

https://doi.org/10.1159/000484764

Announcements

https://doi.org/10.1159/000484772

Refined Mapping of the Cohen Syndrome Gene by Linkage Disequilibrium

Juha Kolehmainen; Reijo Norio; Satu Kivitie-Kallio; Esa Tahvanainen; Albert de la Chapelle; Anna-Elina Lehesjoki

https://doi.org/10.1159/000484765

A Number of Schizencephaly Patients Including 2 Brothers Are Heterozygous for Germline Mutations in the Homeobox Gene EMX2

Antonio Faiella; Silvia Brunelli; Tiziana Granata; Ludovico D'Incerti; Roldano Cardini; Carlo Lenti; Giorgio Battaglia; Edoardo Boncinelli

https://doi.org/10.1159/000484761

Three Novel Point Mutations in the Keratinocyte Transglutaminase (TGK) Gene in Lamellar Ichthyosis: Significance for Mutant Transcript Level, TGK Immunodetection and Activity

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

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

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

https://doi.org/10.1159/000484768

Relationship between Mutation Genotype and Biochemical Phenotype in a Heterogeneous Spanish Phenylketonuria Population

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

https://doi.org/10.1159/000484763

Two New Mutations in the Glucose-6-Phosphatase Gene Cause Glycogen Storage Disease in Hungarian Patients

Ruti Parvari; Ke-Jian Lei; Laszlo Szonyi; Ginat Narkis; Shimon Moses; Janice Y. Chou

https://doi.org/10.1159/000484762

Editorial

Gert-Jan B. van Ommen

https://doi.org/10.1159/000484759

BOR and BO Syndromes Are Allelic Defects of EYA1

Christophe Vincent; Vasiliki Kalatzis; Sonia Abdelhak; Hassan Chaïb; Sylvie Compain; Jocelyne Helias; François-Michel Vaneecloo; Christine Petit

https://doi.org/10.1159/000484770

Announcements

https://doi.org/10.1159/000484732

Association of Extracolonic Manifestations of Familial Adenomatous Polyposis with Acetylation Phenotype in a Large FAP Kindred

Rodney J. Scott; Walter Taeschner; Karl Heinimann; Hansjakob Müller; Zuzana Dobbie; Stefan Morgenthaler; Francine Hoffmann; Bettina Peterli; Urs A. Meyer

https://doi.org/10.1159/000484730

Development and Clinical Application of an Innovative Fluorescence in situ Hybridization Technique Which Detects Submicroscopic Rearrangements Involving Telomeres

Samantha J.L. Knight; Sharon W. Horsley; Regina Regan; N. Martin Lawrie; E.J. Maher; Donald L.N. Cardy; Jonathan Flint; Lyndal Kearney

https://doi.org/10.1159/000484724

Uniparental Disomy in Cartilage-Hair Hypoplasia

Tuija Sulisalo; Outi Mäkitie; Pertti Sistonen; Maaret Ridanpää; Wa'el El-Rifai; Olli Ruuskanen; Albert de la Chapelle; Ilkka Kaitila

https://doi.org/10.1159/000484729

Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Poland - a Study on the 563 and 1311 Mutations of the G6PD Gene

Ewa Jablońska-Skwiecińska; Janusz G. Zimowski; Jolanta Kłopocka; Mariola Bisko; Dorota Hoffman-Zacharska; Jacek Zaremba

https://doi.org/10.1159/000484727

Altered mRNA Expression due to Insertion or Substitution of Thymine at Position +3 of Two Splice-Donor Sites in the Androgen Receptor Gene

Mark A. Trifiro; Rose Lumbroso; Lenore K. Beitel; D. Marie Vasiliou; Joanne Bouchard; Cheri Deal; Guy Van Vliet; Leonard Pinsky

https://doi.org/10.1159/000484731

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