Volume 89, Issue 5

Search all Human Genetics articles

July 1992

26 articles in this issue

Sex determination and sex reversal: genotype, phenotype, dogma and semantics
Ursula Mittwoch
Review Article Pages: 467 - 479
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine α1(I) 901 substitution in a type-I collagen gene
Monica Mottes
Antonella Sangalli
Giuseppe Cetta
Original Investigations Pages: 480 - 484
A new polymorphic site in the G6PD gene
Ernest Beutler
Beryl Westwood
Brian Sipe
Original Investigations Pages: 485 - 486
Assignment of the human CRABP-II gene to chromosome 1q21 by nonisotopic in situ hybridization
J. T. Elder
A. Åström
J. M. Trent
Original Investigations Pages: 487 - 490
Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene
P. Vogt
A. C. Chandley
A. Sharkey
Original Investigations Pages: 491 - 496
Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)
G. Marchetti
P. Patracchini
F. Bernardi
Original Investigations Pages: 497 - 502
Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia
Marina Colombi
Rita Gardella
Sergio Barlati
Original Investigations Pages: 503 - 507
Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene
Francis Munier
M. Anne Spence
Hans Peter Rutz
Original Investigations Pages: 508 - 512
Metabolism of G_M1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders
B. Schmid
B. C. Paton
K. Harzer
Original Investigations Pages: 513 - 518
A non-alphoid repetitive DNA sequence from human chromosome 21
Roman Müllenbach
Steffi Lutz
Nikolaus Blin
Original Investigations Pages: 519 - 523
Reduced recombination and paternal age effect in Klinefelter syndrome
Isabel Lorda-Sanchez
Franz Binkert
Albert A. Schinzel
Original Investigations Pages: 524 - 530
A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite
Ricardo Fujita
Giorgio Sirugo
Michel Koenig
Original Investigations Pages: 531 - 538
Three DNA markers for hypophosphataemic rickets
Peter S. N. Rowe
Andrew P. Read
Jeffrey L. H. O'Riordan
Original Investigations Pages: 539 - 542
Population cytogenetics of aphidicolin-induced fragile sites
Bruna Tedeschi
Patrizia Vernole
Benedetto Nicoletti
Original Investigations Pages: 543 - 547
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria
Hubert de Verneuil1
Francine Bourgeois
Yves Nordmann
Original Investigations Pages: 548 - 552
α_I/65 Hereditary elliptocytosis in Southern Italy: Evidence for an African origin
E. Miraglia del Giudice
M. T. Ducluze
A. Iolascon
Original Investigations Pages: 553 - 556
Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p
Luis Izquierdo
Mary Porteous
J. Michael Connor
Original Investigations Pages: 557 - 560
Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis
B. Top
A. G. Uitterlinden
R. R. Frants
Original Investigations Pages: 561 - 565
The interleukin-7 receptor gene is at 5pl3
Michael Lynch
Elizabeth Baker
Ray G. Goodwin
Short Communications Pages: 566 - 568
Increased expression of 5q31 fragile site in a Bloom syndrome family
Ariela F. Fundia
Nora B. Gorla
Irene B. Larripa
Short Communications Pages: 569 - 572
Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population
Paula Faustino
Leonor Osório-Almeida
João Lavinha
Short Communications Pages: 573 - 576
Refined regional assignment of the human tissue factor pathway inhibitor (TFPI) gene to chromosome band 2q32 by non-isotopic in situ hybridization
C. P. E. Van der Logt
P. M. C. Kluck
P. H. Reitsma
Short Communications Pages: 577 - 578
PCR detection of a BclI RFLP in the G6PD gene of Caucasians
P. J. Willems
L. Vits
DNA Variants Pages: 579 - 579
A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene
Milagros Balbín
Magnus Abrahamson
Anders Grubb
DNA Variants Pages: 580 - 582
A single nucleotide substitution in the phosphoglycerate kinase (PGK)-1 gene occurred after the separation of PGK-1 and PGK-2
H. Fujii
H. Kanno
S. Miwa
DNA Variants Pages: 583 - 583
Two PstI polymorphisms for the urokinase-type plasminogen activator receptor gene (PLAUR)
A. D. Børglum
A. Byskov
T. A. Kruse
DNA Variants Pages: 584 - 584

Volume 89, Issue 5

Sex determination and sex reversal: genotype, phenotype, dogma and semantics

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine α1(I) 901 substitution in a type-I collagen gene

A new polymorphic site in the G6PD gene

Assignment of the human CRABP-II gene to chromosome 1q21 by nonisotopic in situ hybridization

Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene

Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)

Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia

Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene

Metabolism of G_M1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders

A non-alphoid repetitive DNA sequence from human chromosome 21

Reduced recombination and paternal age effect in Klinefelter syndrome

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite

Three DNA markers for hypophosphataemic rickets

Population cytogenetics of aphidicolin-induced fragile sites

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria

α_I/65 Hereditary elliptocytosis in Southern Italy: Evidence for an African origin

Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p

Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis

The interleukin-7 receptor gene is at 5pl3

Increased expression of 5q31 fragile site in a Bloom syndrome family

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population

Refined regional assignment of the human tissue factor pathway inhibitor (TFPI) gene to chromosome band 2q32 by non-isotopic in situ hybridization

PCR detection of a BclI RFLP in the G6PD gene of Caucasians

A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene

A single nucleotide substitution in the phosphoglycerate kinase (PGK)-1 gene occurred after the separation of PGK-1 and PGK-2

Two PstI polymorphisms for the urokinase-type plasminogen activator receptor gene (PLAUR)

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