Volume 102, Issue 4

Search all Human Genetics articles

April 1998

24 articles in this issue

Germ line mosaicism
Joël Zlotogora
Refiew article Pages: 381 - 386
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
F. R. Vargas
E. Roessler
M. Muenke
Original investigation Pages: 387 - 392
Analysis of HLA-DQ α sequences for prenatal diagnosis in single fetal cells from maternal blood
A. Sekizawa
Atsushi Taguchi
Takeshi Sato
Original investigation Pages: 393 - 396
Telomeric length and telomerase activity vary with age in peripheral blood cells obtained from normal individuals
Hiroshi Iwama
K. Ohyashiki
Jerry W. Shay
Original investigation Pages: 397 - 402
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5
Y. Ejima
Masao S. Sasaki
Original investigation Pages: 403 - 408
Common fragile sites on human chromosomes represent transcriptionally active regions: evidence from camptothecin
I. Sbrana
Patrizia Zavattari
Antonio Musio
Original investigation Pages: 409 - 414
Interplay between humans and infective agents: a population genetic study
C. Fischer
Brigitte Jock
Friedrich Vogel
Original investigation Pages: 415 - 422
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene
Barbara Burwinkel
Lluis Amat
M. W. Kilimann
Original investigation Pages: 423 - 429
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia
S. Kure
Hanna Mandel
Kuniaki Narisawa
Original investigation Pages: 430 - 434
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome
Toshio Itoh
T. Tanaka
Yusuke Nakamura
Original investigation Pages: 435 - 439
Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations
K. Grønskov
Anni Hallberg
Karen Brøndum-Nielsen
Original investigation Pages: 440 - 445
Molecular analysis of the chromosomal equipment in spermatoza of a 46, XY, t(7;8) (q11.21;cen) carrier by using fluorescence in situ hybridization
S. Mercier
F. Morel
J. L. Bresson
Original investigation Pages: 446 - 451
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I
M. Schwartz
Ernst Christensen
Niels Jacob Brandt
Original investigation Pages: 452 - 458
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation
M. Gomez-Lira
Chiara Perusi
Alessandro Salviati
Original investigation Pages: 459 - 463
Three novel KCNA1 mutations in episodic ataxia type I families
H. Scheffer
E. R. P. Brunt
C. H. C. M. Buys
Original investigation Pages: 464 - 466
The genetic basis of Cowden’s syndrome: three novel mutations in PTEN/MMAC1/TEP1
H. C. Tsou
Xiao Li Ping
M. Peacocke
Original investigation Pages: 467 - 473
Mutational analysis of the GDNF/RET-GDNFRα signaling complex in a kindred with vesicoureteral reflux
Sarah E. Shefelbine
Sangeeta Khorana
R. F. Gagel
Original investigation Pages: 474 - 478
High frequency of polymorphism but no mutations found in the GLUT1 glucose transporter gene in NIDDM and familial obesity by SSCP analysis
M. G. Baroni
M. Pina D’Andrea
Paolo Pozzilli
Original investigation Pages: 479 - 482
Mutational analysis of the CCR5 and CXCR4 genes (HIV-1 co-receptors) in resistance to HIV-1 infection and AIDS development among intravenous drug users
V. Alvarez
Carlos López-Larrea
Eliecer Coto
Original investigation Pages: 483 - 486
UBE3A“mutations” in two unrelated and phenotypically different Angelman syndrome patients
David C. Y. Fung
Bing Yu
R. J. Trent
Original investigation Pages: 487 - 492
Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q
Su-ying Xu
Thomas Rosenberg
A. Gal
Rapid communication Pages: 493 - 494
Eratum: Hum Genet (1998) 102: 145–150
Pages: 495 - 495
Erratum: Hum Genet (1996) 98: 430–436
Pages: 496 - 496
Gene symbol: COL11A1 Disease: Marshall Syndrome
M. H. Meisler
A. J. Griffith
L. K. Sprunger
Human gene mutations Pages: 498 - 498

Volume 102, Issue 4

Germ line mosaicism

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

Analysis of HLA-DQ α sequences for prenatal diagnosis in single fetal cells from maternal blood

Telomeric length and telomerase activity vary with age in peripheral blood cells obtained from normal individuals

Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5

Common fragile sites on human chromosomes represent transcriptionally active regions: evidence from camptothecin

Interplay between humans and infective agents: a population genetic study

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

Molecular analysis of the chromosomal equipment in spermatoza of a 46, XY, t(7;8) (q11.21;cen) carrier by using fluorescence in situ hybridization

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I

Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation

Three novel KCNA1 mutations in episodic ataxia type I families

The genetic basis of Cowden’s syndrome: three novel mutations in PTEN/MMAC1/TEP1

Mutational analysis of the GDNF/RET-GDNFRα signaling complex in a kindred with vesicoureteral reflux

High frequency of polymorphism but no mutations found in the GLUT1 glucose transporter gene in NIDDM and familial obesity by SSCP analysis

Mutational analysis of the CCR5 and CXCR4 genes (HIV-1 co-receptors) in resistance to HIV-1 infection and AIDS development among intravenous drug users

UBE3A“mutations” in two unrelated and phenotypically different Angelman syndrome patients

Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q

Eratum: Hum Genet (1998) 102: 145–150

Erratum: Hum Genet (1996) 98: 430–436

Gene symbol: COL11A1 Disease: Marshall Syndrome

Navigation