Volume 98, Issue 6

Search all Human Genetics articles

November 1996

26 articles in this issue

Transglutaminase activity is related to CAG repeat length in patients with Huntington’s disease
L. Cariello
T. de Cristofaro
S. Varrone
Original investigation Pages: 633 - 635
Absence of association between the Gly⁴⁰→Ser mutation in the human glucagon receptor and Japanese patients with non-insulin-dependent diabetes mellitus or impaired glucose tolerance
M. Odawara
Yoichi Tachi
Kamejiro Yamashita
Original investigation Pages: 636 - 639
Wilson disease mutations associated with uncommon haplotypes in mediterranean patients
G. Loudianos
Valeria Dessì
Mario Pirastu
Original investigation Pages: 640 - 642
Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene
R. Matsumura
Tetsuya Takayanagi
Satoshi Ueno
Original investigation Pages: 643 - 645
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome
Paola Riva
Pierangela Castorina
L. Larizza
Original investigation Pages: 646 - 650
Evidence of somatic mutations in osteoarthritis
F. Mertens
E. Pålsson
Nils Mandahl
Original investigation Pages: 651 - 656
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia
Antonio Rossi
Hans J. van der Harten
A. Superti-Furga
Original investigation Pages: 657 - 661
Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency
P. Carrera
Laura Bordone
Maurizio Ferrari
Original investigation Pages: 662 - 665
Isolation and characterization of the full-length 3′ untranslated region of the human von Hippel-Lindau tumor suppressor gene
P. Renbaum
Fuh-Mei Duh
Igor Kuzmin
Original investigation Pages: 666 - 671
Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2–q22.3
Haiming Chen
Constantin Bouras
Stylianos E. Antonarakis
Original investigation Pages: 672 - 677
The apolipoprotein B Q3405E polymorphism has no effect on its low-density-lipoprotein receptor binding affinity
C. R. Pullinger
Janette A. Love
John P. Kane
Original investigation Pages: 678 - 680
Detection of a new polymorphism in the plasma-membrane Ca²⁺ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1)
Z. Smolenicka
D. Guerini
S. Liechti-Gallati
Original investigation Pages: 681 - 684
Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome
Wenda L. Greer
Amro Shehabeldin
K. A. Siminovitch
Original investigation Pages: 685 - 690
Molecular studies in three patients with isodicentric Y chromosome
Liborio Stuppia
Giuseppe Calabrese
Giandomenico Palka
Original investigation Pages: 691 - 695
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients
C. Lázaro
Antonia Gaona
Xavier Estivill
Original investigation Pages: 696 - 699
A novel mutation of presenilin 1 in familial Alzheimer’s disease in Israel detected by denaturing gradient gel electrophoresis
Haike Reznik-Wolf
Therese A. Treves
E. Friedman
Original investigation Pages: 700 - 702
Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism
Salmo Raskin
J. D. Cogan
J. A. Phillips III.
Original investigation Pages: 703 - 705
Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient
U. Pannicke
Peter Tuchschmid
Klaus Schwarz
Original investigation Pages: 706 - 709
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients
B. J. Trask
Heather Mefford
P. I. Patel
Original investigation Pages: 710 - 718
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease
Dominique Germain
M. Biasotto
Livia Poenaru
Original investigation Pages: 719 - 726
Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli
R. B. van der Luijt
P. Meera Khan
Riccardo Fodde
Original investigation Pages: 727 - 734
Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis
A. Verrips
Gerry C. H. Steenbergen-Spanjers
Ron A. Wevers
Original investigation Pages: 735 - 737
Localization of the human phosphotyrosine phosphatase-related genes (h-PRL-1) to chromosome bands 1p35–p34, 17q12–q21, 11q24–q25 and 12q24
M. Montagna
Olga Serova
Gilbert M. Lenoir
Original investigation Pages: 738 - 740
Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285
Su-Ying Xu
Michael Denton
A. Gal
Rapid communication Pages: 741 - 743
Association between the PI*M3 allele of α1-antitrypsin and Alzheimer’s disease? A preliminary report
A. Kowalska
Heidi Danker-Hopfe
Hubert Walter
Rapid communication Pages: 744 - 746
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?
Roland Kruse
Christof Lamberti
Peter Propping
Rapid communication Pages: 747 - 750

Volume 98, Issue 6

Transglutaminase activity is related to CAG repeat length in patients with Huntington’s disease

Absence of association between the Gly⁴⁰→Ser mutation in the human glucagon receptor and Japanese patients with non-insulin-dependent diabetes mellitus or impaired glucose tolerance

Wilson disease mutations associated with uncommon haplotypes in mediterranean patients

Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome

Evidence of somatic mutations in osteoarthritis

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency

Isolation and characterization of the full-length 3′ untranslated region of the human von Hippel-Lindau tumor suppressor gene

Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2–q22.3

The apolipoprotein B Q3405E polymorphism has no effect on its low-density-lipoprotein receptor binding affinity

Detection of a new polymorphism in the plasma-membrane Ca²⁺ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1)

Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome

Molecular studies in three patients with isodicentric Y chromosome

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

A novel mutation of presenilin 1 in familial Alzheimer’s disease in Israel detected by denaturing gradient gel electrophoresis

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism

Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease

Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

Localization of the human phosphotyrosine phosphatase-related genes (h-PRL-1) to chromosome bands 1p35–p34, 17q12–q21, 11q24–q25 and 12q24

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

Association between the PI*M3 allele of α1-antitrypsin and Alzheimer’s disease? A preliminary report

Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?

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