Volume 104, Issue 1

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February 1999

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21 articles in this issue

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
A. B. P. Van Kuilenburg
P. Vreken
A. H. Van Gennip
Review article Pages: 1 - 9
Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase
M. Poot
Katherine A. Gollahon
Peter S. Rabinovitch
Rapid commmunication Pages: 10 - 14
Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53
A. I. Wacey
D. N. Cooper
M. Krawczak
Original investigation Pages: 15 - 22
A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception
J. Cozzi
Clare M. Conn
J. D. A. Delhanty
Original investigation Pages: 23 - 28
A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH)
H. M. Wenz
Susanne Baumhueter
Mark Worwood
Original investigation Pages: 29 - 35
A G to A transition at the last nucleotide of exon 6 of the γc gene (868G→A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency
Nobuko Kanai
Fumio Yanai
Akihisa Mitsudome
Original investigation Pages: 36 - 42
Xp deletions associated with autism in three females
N. S. Thomas
Andrew J. Sharp
Nicholas R. Dennis
Original investigation Pages: 43 - 48
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
T. Kubota
Shigeaki Nonoyama
Yoshimitsu Fukushima
Original investigation Pages: 49 - 55
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
J. Gecz
Elizabeth Baker
John C. Mulley
Original investigation Pages: 56 - 63
Delineation of two distinct 6p deletion syndromes
Angela F. Davies
Ghazala Mirza
J. Ragoussis
Original investigation Pages: 64 - 72
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22
A. I. den Hollander
S. D. van der Velde-Visser
Frans P. M. Cremers
Original investigation Pages: 73 - 76
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)
Sana Kermani
Kevin Gregory-Evans
C. Y. Gregory-Evans
Original investigation Pages: 77 - 82
P57 (KIP2) polymorphisms and breast cancer risk
Y. Li
R. C. Millikan
E. T. Li
Original investigation Pages: 83 - 88
Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography
Bastiaan Hoogendoorn
Michael J. Owen
M. C. O’Donovan
Original investigation Pages: 89 - 93
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII)
M. L. Huie
A. L. Shanske
R. Hirschhorn
Original investigation Pages: 94 - 98
Mapping and genomic characterization of the gene encoding diacylglycerol kinase γ (DAGK3): assessment of its role in dominant optic atrophy (OPA1)
Heidi Stöhr
Jörg Klein
B. H. F. Weber
Original investigation Pages: 99 - 105
Characterization of a novel α-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation
H. M. Frostad Riise
Gaute Martin Hansen
Øivind Nilssen
Short report Pages: 106 - 107
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment
M. Seri
Giuseppe Martucciello
Vincenzo Jasonni
Short report Pages: 108 - 110
Letter to the editor
Y. T. Chen
Pages: 111 - 111
Glycogen storage disease III subtypes and muscle weakness during childhood
M. Okubo
A. Horinishi
T. Murase
Reply Pages: 112 - 112
Erratum: Hum Genet (1998) 103:666–673
Pages: 113 - 113

Volume 104, Issue 1

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase

Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53

A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception

A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH)

A G to A transition at the last nucleotide of exon 6 of the γc gene (868G→A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency

Xp deletions associated with autism in three females

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

Delineation of two distinct 6p deletion syndromes

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22

Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)

P57 (KIP2) polymorphisms and breast cancer risk

Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography

A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII)

Mapping and genomic characterization of the gene encoding diacylglycerol kinase γ (DAGK3): assessment of its role in dominant optic atrophy (OPA1)

Characterization of a novel α-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment

Letter to the editor

Glycogen storage disease III subtypes and muscle weakness during childhood

Erratum: Hum Genet (1998) 103:666–673

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