Volume 102, Issue 5

Search all Human Genetics articles

May 1998

17 articles in this issue

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations
Anita L. DeStefano
L. Adrienne Cupples
L. A. Farrer
Original investigation Pages: 499 - 506
A study of females with deletions of the short arm of the X chromosome
Rowena S. James
Brian Coppin
P. A. Jacobs
Original investigation Pages: 507 - 516
A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region
W. Thomas
A. Fullan
Roger K. Wolff
Original investigation Pages: 517 - 525
Lack of association between human longevity and genetic polymorphisms in drug-metabolizing enzymes at the NAT2, GSTM1 and CYP2D6 loci
M.-L. Muiras
Patrick Verasdonck
François Schächter
Original investigation Pages: 526 - 532
Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation
Joseph F. Cubells
Daniel P. van Kammen
J. Gelernter
Original investigation Pages: 533 - 540
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
S. Mustajoki
Hannele Pihlaja
Raili Kauppinen
Original investigation Pages: 541 - 548
High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families
Tapan Ganguly
Rohini Dhulipala
A. Ganguly
Original investigation Pages: 549 - 556
Deletion mapping by FISH with BACs in patients with partial monosomy 22q13
K. Schröder
Simone Schuffenhauer
Holger Schmitt
Original investigation Pages: 557 - 561
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias
B. Górski
Jolanta Kubalska
J. Lubiński
Original investigation Pages: 562 - 565
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11
Liborio Stuppia
Valentina Gatta
G. Palka
Original investigation Pages: 566 - 570
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
Katie L. Swango
Mübeccel Demirkol
B. Wolf
Original Investigation Pages: 571 - 575
Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel
M. Ludwig
Ursula Bolkenius
Frank Bidlingmaier
Original Investigation Pages: 576 - 581
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator
Frauke Mekus
Manfred Ballmann
H. J. Veeze
Original Investigation Pages: 582 - 586
Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country
J. M. Collée
Hendrik G. de Vries
Leo P. ten Kate
Original Investigation Pages: 587 - 590
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
M. Upadhyaya
M. Ruggieri
D. N. Cooper
Original Investigation Pages: 591 - 597
The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome
I. Smyth
Carol Wicking
Georgia Chenevix-Trench
Rapid communication Pages: 598 - 601
Erratum: Hum Genet (1998) 102: 459–463
Pages: 602 - 602

Volume 102, Issue 5

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

A study of females with deletions of the short arm of the X chromosome

A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region

Lack of association between human longevity and genetic polymorphisms in drug-metabolizing enzymes at the NAT2, GSTM1 and CYP2D6 loci

Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation

Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13

LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias

A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene

Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel

Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator

Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome

Erratum: Hum Genet (1998) 102: 459–463

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