Volume 89, Issue 6

Search all Human Genetics articles

August 1992

27 articles in this issue

Molecular screening and fetal diagnosis of β-thalassemia in the Italian population
Maria Cristina Rosatelli
Teresa Tuveri
Antonio Cao
Review Article Pages: 585 - 589
The majority of the marker chromosomes in Japanese patients with stigmata of turner syndrome are derived from Y chromosomes
Shigeo Nagafuchi
Takashi Tamura
Yasuo Nakagome
Original Investigations Pages: 590 - 592
Identification of a missense phenylketonuria mutation at codon 408 in Chinese
Chun-Hung Lin
Kwang-Jen Hsiao
Tsung-Sheng Su
Original Investigations Pages: 593 - 596
No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a chinese family: evidence for genetic heterogeneity
Yu-Lin Ko
Wen-Pin Lien
Choong-Chin Liew
Original Investigations Pages: 597 - 601
Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation
Mark J. Pettenati
Nagesh Rao
Ioan T. Thomas
Original Investigations Pages: 602 - 606
Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene
H. Scheffer
R. H. J. Houwen
C. H. C. M. Buys
Original Investigations Pages: 607 - 611
Fragile site (16) (q22)
B. Müller
W. Feichtinger
M. Schmid
Original Investigations Pages: 612 - 614
Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts
Ryszard Slomski
Manfred Schloesser
Jochen Reiss
Original Investigations Pages: 615 - 619
Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21
I. Bach
D. Robinson
F. P. M. Cremers
Original Investigations Pages: 620 - 624
A haplotype-linked four base pair deletion upstream of the Aγ globin gene coincides with decreased gene expression
Cherif Beldjord
Rolande Ducrocq
Dominique Labie
Original Investigations Pages: 625 - 628
β-Globin gene cluster haplotypes in Yanomama Indians from the Amazon region of Brazil
João F. Guerreiro
Mauro S. Figueiredo
Marco A. Zago
Original Investigations Pages: 629 - 631
Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome
Ryszard Slomski
Ingrid Braulke
Jochen Reiss
Original Investigations Pages: 632 - 634
DNA analysis in Turkish Duchenne/Becker muscular dystrophy families
Esra Battaloğlu
Milhan Telatar
Ashhan Tolun
Original Investigations Pages: 635 - 639
A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta
Jacky Bonaventure
Lola Cohen-Solal
Pierre Maroteaux
Original Investigations Pages: 640 - 646
Molecular studies of parental origin and mosaicism in 45,X conceptuses
Terry Hassold
Dorothy Pettay
Irene Uchida
Original Investigations Pages: 647 - 652
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
L. Osborne
G. Santis
R. A. Knight
Original Investigations Pages: 653 - 658
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation
Heiko Traupe
Dietmar Müller
Hans-Hilger Ropers
Original Investigations Pages: 659 - 665
Crossed renal ectopia with pelvic lipomatosis: a new syndrome involving chromosome 1
H. K. Goswami
G. V. Rangnekar
A. Joshi
Original Investigations Pages: 666 - 670
Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec
Thierry Normand
Jean Bergeron
Paul J. Lupien
Original Investigations Pages: 671 - 675
Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the α-chain and Hb Duino has two residues substituted in the β-chain
H. Wajcman
Y. Blouquit
F. Galacteros
Short Communications Pages: 676 - 680
Assignment of the gene for human spasmolytic protein (hSP/SML1) to chromosome 21
Birgit Theisinger
Cornelius Welter
Nikolaus Blin
Short Communications Pages: 681 - 682
A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis
Catherine B. Grundy
Morag Chisholm
David N. Cooper
DNA Variants Pages: 683 - 684
Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis
Catherine B. Grundy
Sam Schulman
David N. Cooper
DNA Variants Pages: 685 - 686
A HindIII/BglII dystrophin gene polymorphism in the African-American population
Thomas W. Prior
Audrey C. Papp
Brian H. Wallace
DNA Variants Pages: 687 - 688
A novel NcoI polymorphism creates a fifth haplotype in the 3′ untranslated region of CKM
Ann-Marie Differ
Martin Bobrow
Christopher G. Mathew
DNA Variants Pages: 689 - 689
No abnormalities in the NAD⁺ ADP-ribosyltransferase (polymerizing) gene of transformed cells from a Fanconi's anemia patient
Karin Flick
Rainer Schneider
Manfred Schweiger
Letter to the Editors Pages: 690 - 691
Announcements

Announcement Pages: 692 - 692

Volume 89, Issue 6

Molecular screening and fetal diagnosis of β-thalassemia in the Italian population

The majority of the marker chromosomes in Japanese patients with stigmata of turner syndrome are derived from Y chromosomes

Identification of a missense phenylketonuria mutation at codon 408 in Chinese

No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a chinese family: evidence for genetic heterogeneity

Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation

Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene

Fragile site (16) (q22)

Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21

A haplotype-linked four base pair deletion upstream of the Aγ globin gene coincides with decreased gene expression

β-Globin gene cluster haplotypes in Yanomama Indians from the Amazon region of Brazil

Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome

DNA analysis in Turkish Duchenne/Becker muscular dystrophy families

A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta

Molecular studies of parental origin and mosaicism in 45,X conceptuses

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation

Crossed renal ectopia with pelvic lipomatosis: a new syndrome involving chromosome 1

Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec

Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the α-chain and Hb Duino has two residues substituted in the β-chain

Assignment of the gene for human spasmolytic protein (hSP/SML1) to chromosome 21

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis

Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis

A HindIII/BglII dystrophin gene polymorphism in the African-American population

A novel NcoI polymorphism creates a fifth haplotype in the 3′ untranslated region of CKM

No abnormalities in the NAD⁺ ADP-ribosyltransferase (polymerizing) gene of transformed cells from a Fanconi's anemia patient

Announcements

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