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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. 3
Review
Human and Clinical Cytogenetics: Origins, Evolution and Impact
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (3): 117–128.
https://doi.org/10.1159/000484747
Original Paper
A Chronic GM(2) Gangliosidosis Variant with a HEXA Splicing Defect: Quantitation of HEXA mRNAs in Normal and Mutant Fibroblasts
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (3): 129–136.
https://doi.org/10.1159/000484748
Somatic Mosaicism in Fanconi Anemia: Molecular Basis and Clinical Significance
Subject Area:
Genetics
J.R. Lo Ten Foe; M.L. *; M.A. Rooimans; A.B. Oostra; A.J.R. Veerman; M. van Weel; R.M. Pauli; N.T. Shahidi; I. Dokal; I. Roberts; C. Altay; E. Gluckman; R.A. Gibson; C.G Mathew; F. Arwert; H. Joenje
European Journal of Human Genetics (1997) 5 (3): 137–148.
https://doi.org/10.1159/000484749
CFTR Gene Mutations in Adults with Disseminated Bronchiectasis
Subject Area:
Genetics
Emmanuelle Girodon; Cécile Cazeneuve; François Lebargy; Thierry Chinet; Bruno Costes; Nada Ghanem; Josiane Martin; Sylvie Lemay; Philippe Scheid; Bruno Housset; Jean Bignon; Michel Goossens
European Journal of Human Genetics (1997) 5 (3): 149–155.
https://doi.org/10.1159/000484750
Mapping of Papillon-Lefèvre Syndrome to the Chromosome 11q14 Region
Subject Area:
Genetics
Judith Fischer; Claudine Blanchet-Bardon; Jean-François Prud’homme; Sylvana Pavek; Peter M. Steijlen; Louis Dubertret; Jean Weissenbach
European Journal of Human Genetics (1997) 5 (3): 156–160.
https://doi.org/10.1159/000484751
Osteogenesis imperfecta Phenotypes Resulting from Serine for Glycine Substitutions in the α2(I) Collagen Chain
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (3): 161–167.
https://doi.org/10.1159/000484752
Short Report
Linkage Analysis in 16 Families with Incontinentia pigmenti
Subject Area:
Genetics
Monique Jouet; Helen Stewart; Sara Landy; John Yates; Siu Li Yong; Ann Harris; Christine Garret; Eli Hatchwell; Andrew Read; Di Donnai; Sue Kenwrick
European Journal of Human Genetics (1997) 5 (3): 168–170.
https://doi.org/10.1159/000484753
A YAC Contig Spanning the Blepharophimosis-Ptosis- Epicanthus inversus Syndrome and Propionic Acidemia Loci
Subject Area:
Genetics
Maria Rosaria Piemontese; Elena Memeo; Massimo Carella; Patrizia Amati; Jean-Claude Chomel; Dominique Bonneau; Giuseppe Pilia; Antonio Cao; Harry Drabkin; Robert Gemmili; Johanna Rommens; Leopoldo Zelante; Paolo Casparini; Luigi Bisceglia
European Journal of Human Genetics (1997) 5 (3): 171–174.
https://doi.org/10.1159/000484754
Tetrasomy 18p Caused by Paternal Meiotic Nondisjunction
Subject Area:
Genetics
Thomas Eggermann; Hartmut Engels; Can Apacik; Barbara Moskalonek; Jutta Müller-Navia; Gesa Schwanitz; Sabine Stengel-Rutkowski
European Journal of Human Genetics (1997) 5 (3): 175–177.
https://doi.org/10.1159/000484755
Announcements
Subject Area:
Genetics
European Journal of Human Genetics (1997) 5 (3): 178.
https://doi.org/10.1159/000484756
