Volume 96, Issue 6

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December 1995

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24 articles in this issue

ACP1 and human adaptability 1. Association with common diseases: a case-control study
E. Bottini
F. Gloria-Bottini
P. Borgiani
Original Investigation Pages: 629 - 637
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome
Gabriele Gillessen-Kaesbach
Wendy Robinson
Bernhard Horsthemke
Original Investigation Pages: 638 - 643
Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood
Jutta Jenderny
Eckhard Köster
Ute Jänig
Original Investigation Pages: 644 - 650
Proliferation enhancement by spontaneous multiplication of chromosome 7 in rheumatic synovial cells in vitro
Ayhan Ermis
Wolfram Henn
Klaus D. Zang
Original Investigation Pages: 651 - 654
Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes
Sophie Rousseaux
Edith Chevret
Bernard Sèle
Original Investigation Pages: 655 - 660
Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis
Jutta Müller-Navia
Almut Nebel
Engelhardt Schleiermacher
Original Investigation Pages: 661 - 667
Localization of the CDKN4/p27^Kip1 gene to human chromosome 12p12.3
Emmanuel Martin
Valère Cacheux
Bernard Grandchamp
Original Investigation Pages: 668 - 670
Human glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5
Nessan Bermingham
Renate Hillermann
Elizabeth M. C. Fisher
Original Investigation Pages: 671 - 673
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells
Masayuki Hakoda
Yuko Hirai
Sadao Kashiwazaki
Original Investigation Pages: 674 - 680
Three novel mutations in the interleukin-2 receptor γ chain gene in four Japanese patients with X-linked severe combined immunodeficiency
Yoshiyuki Minegishi
Naoto Ishii
Jun-ichi Yata
Original Investigation Pages: 681 - 683
Chromosome 17 abnormalities and lack of TP53 mutations in paediatric central nervous system tumours
Catherine M. Phelan
Lu Liu
Vincent P. Collins
Original Investigation Pages: 684 - 690
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I
Corien C. Verschuuren-Bemelmans
Ewout R. P. Brunt
Hans Scheffer
Original Investigation Pages: 691 - 694
Parental generalized EEG alpha activity predisposes to spike wave discharges in offspring
Hermann Doose
Eva Castiglione
Stephan Waltz
Original Investigation Pages: 695 - 704
APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis
Rob B. van der Luijt
Hans F. A. Vasen
P. Meera Khan
Original Investigation Pages: 705 - 710
Germline mosaicism for an alanine to valine substitution at residue β 140 in hemoglobin Puttelange, a new variant with high oxygen affinity
H. Wajcman
E. Girodon
F. Galacteros
Original Investigation Pages: 711 - 716
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype
Marie Desgeorges
Michel Rodier
Mireille Claustres
Original Investigation Pages: 717 - 720
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation
B. S. Gathof
M. Sommer
Y. S. Shin
Original Investigation Pages: 721 - 725
Inheritance of migraine investigated by complex segregation analysis
Michael Bjørn Russell
Lennart Iselius
Jes Olesen
Original Investigation Pages: 726 - 730
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis
Hong Wi Ma
Elisabeth Lajeunie
Dominique Renier
Original Investigation Pages: 731 - 735
Dinucleotide repeat polymorphism in the human ceruloplasmin gene
Makoto Daimon
Yoshihiro Morita
Hideo Sasaki
OriginalPaper Pages: 736 - 736
Polymorphic tri and tetranucleotide repeats in exons 1 and 8 of the myelin oligodendrocyte glycoprotein (MOG) gene
L. Malfroy
C. Viratelle
M. P. Roth
OriginalPaper Pages: 737 - 738
Single nucleotide polymorphisms in the human E-cadherin gene
Karl-Friedrich Becker
Ulrike Reich
Heinz Höfler
OriginalPaper Pages: 739 - 740
Polymorphism in the 3′ untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes
Susan J. Ramus
Richard G. H. Cotton
OriginalPaper Pages: 741 - 743
A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level
Vinciane Régnier
Gisèle Danglot
Alain Bernheim
Erratum Pages: 744 - 744

Volume 96, Issue 6

ACP1 and human adaptability 1. Association with common diseases: a case-control study

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome

Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood

Proliferation enhancement by spontaneous multiplication of chromosome 7 in rheumatic synovial cells in vitro

Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes

Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis

Localization of the CDKN4/p27^Kip1 gene to human chromosome 12p12.3

Human glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5

Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells

Three novel mutations in the interleukin-2 receptor γ chain gene in four Japanese patients with X-linked severe combined immunodeficiency

Chromosome 17 abnormalities and lack of TP53 mutations in paediatric central nervous system tumours

Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I

Parental generalized EEG alpha activity predisposes to spike wave discharges in offspring

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis

Germline mosaicism for an alanine to valine substitution at residue β 140 in hemoglobin Puttelange, a new variant with high oxygen affinity

Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype

Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation

Inheritance of migraine investigated by complex segregation analysis

No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis

Dinucleotide repeat polymorphism in the human ceruloplasmin gene

Polymorphic tri and tetranucleotide repeats in exons 1 and 8 of the myelin oligodendrocyte glycoprotein (MOG) gene

Single nucleotide polymorphisms in the human E-cadherin gene

Polymorphism in the 3′ untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes

A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level

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