Volume 98, Issue 4

Search all Human Genetics articles

August 1996

23 articles in this issue

Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene
K. Suzuki
Jürgen Henke
Shigenori Ito
Original investigation Pages: 393 - 395
Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis
Deborah Stone
Y. Ning
L. Biesecker
Original investigation Pages: 396 - 402
A new mechanism in blue cone monochromatism
A.-S. Ladekjær-Mikkelsen
T. Rosenberg
A. L. Jørgensen
Original investigation Pages: 403 - 408
Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation
B. Schmucker
Wolfgang G. Ballhausen
Rudolf A. Pfeiffer
Original investigation Pages: 409 - 414
Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I)
Reiko Iida
Toshihiro Yasuda
K. Kishi
Original investigation Pages: 415 - 418
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion
M. Milà
Sergi Castellví-Bel
Xavier Estivill
Original investigation Pages: 419 - 421
Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
P. Vicart
Jean-Marie Dupret
Denise Paulin
Original investigation Pages: 422 - 429
Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer’s disease
Benjamin Tycko
L. Feng
R. Mayeux
Original investigation Pages: 430 - 436
Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease
Pavlos Neophytou
Rolandos Constantinides
C. Constantinou Deltas
Original investigation Pages: 437 - 442
Physical linkage and orientation of the human complement C8α and C8β genes on chromosome 1p32
P. L. Platteborze
Michael J. Hobart
J. M. Sodetz
Original investigation Pages: 443 - 446
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism
Luigi Bisceglia
Maria Julia Calonge
Virginia Nunes
Original investigation Pages: 447 - 451
A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema
H. Ono
Hiroshi Kawaguchi
Hiroshi Nakajima
Original investigation Pages: 452 - 453
A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome
Angela F. Davies
Mark G. Olavesen
J. Ragoussis
Original investigation Pages: 454 - 459
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome
M. Nadal
M. Milà
X. Estivill
Original investigation Pages: 460 - 466
Untangling genetic influences on smoking, body mass index and longevity: a multivariate study of 2464 Danish twins followed for 28 years
A. M. Herskind
Matthew McGue
James W. Vaupel
Original investigation Pages: 467 - 475
Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene
M. J. Kotze
Rochelle Thiart
Armand V. Peeters
Original investigation Pages: 476 - 478
Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations
K. Steyn
Y. P. Goldberg
D. R. Van der Westhuyzen
Original investigation Pages: 479 - 484
Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis
Jutta Köhler
Barbara Rupilius
M. C. Koch
Original investigation Pages: 485 - 490
Linkage of type I diabetes to 15q26 (IDDM3) in the Danish population
Mahdi Zamani
Flemming Pociot
J.-J. Cassiman
Original investigation Pages: 491 - 496
The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome
Nicholas Katsanis
E. M. C. Fisher
Rapid communication Pages: 497 - 499
Genetic fine mapping of the gene for recessive Stargardt disease
C. B. Hoyng
F. Poppelaars
F. P. M. Cremers
Rapid communication Pages: 500 - 504
Molecular mapping of a Yq deletion in a patient with normal stature
R. Rousseaux-Prévost
Jean-Marc Rigot
Jean Rousseaux
Rapid communication Pages: 505 - 507
Precise localization of the human gene encoding cell adhesion kinase β (CAKβ/PYK2) to chromosome 8 at p21.1 by fluorescence in situ hybridization
J. Inazawa
Hiroko Sasaki
Terukatsu Sasaki
Rapid communication Pages: 508 - 510

Volume 98, Issue 4

Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene

Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis

A new mechanism in blue cone monochromatism

Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation

Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I)

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy

Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer’s disease

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

Physical linkage and orientation of the human complement C8α and C8β genes on chromosome 1p32

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema

A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

Untangling genetic influences on smoking, body mass index and longevity: a multivariate study of 2464 Danish twins followed for 28 years

Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene

Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations

Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis

Linkage of type I diabetes to 15q26 (IDDM3) in the Danish population

The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome

Genetic fine mapping of the gene for recessive Stargardt disease

Molecular mapping of a Yq deletion in a patient with normal stature

Precise localization of the human gene encoding cell adhesion kinase β (CAKβ/PYK2) to chromosome 8 at p21.1 by fluorescence in situ hybridization

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