Volume 101, Issue 2

Search all Human Genetics articles

November 1997

27 articles in this issue

An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants
Charles E. Ogburn
Junko Oshima
G. M. Martin
Original investigation Pages: 121 - 125
Association of transferrin C2 allele with late-onset Alzheimer’s disease
Kazuhiko Namekata
Masaki Imagawa
Y. Ihara
Original investigation Pages: 126 - 129
Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel
C. Graff
Tord Jerndal
Claes Wadelius
Original investigation Pages: 130 - 134
Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency
Rebecca Ott
John S. Waye
P. Chang
Original investigation Pages: 135 - 140
Evidence for convergent evolution of A and B blood group antigens in primates
C. O’hUigin
Akie Sato
Jan Klein
Original investigation Pages: 141 - 148
A novel source of highly specific chromosome painting probes for human karyotype analysis derived from primate homologues
Stefan Müller
Patricia C. M. O’Brien
J. Wienberg
Original investigation Pages: 149 - 153
Gene structure and allelic expression assay of the human GLI3 gene
S. Kang
Marjorie Rosenberg
L. G. Biesecker
Original investigation Pages: 154 - 157
ACP1 and human adaptability 2. Association with season of conception
Fulvia Gloria-Bottini
Nazzareno Lucarini
E. Bottini
Original investigation Pages: 158 - 164
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
H. Winter
Michael A. Rogers
Jürgen Schweizer
Original investigation Pages: 165 - 169
Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the β subunit gene (PHKB)
Barbara Burwinkel
Shimon W. Moses
M. W. Kilimann
Original investigation Pages: 170 - 174
Inv(10)(p11.2q21.2), a variant chromosome
M. N. Collinson
Andrew M. Fisher
Paul Roberts
Original investigation Pages: 175 - 180
RB1 deletion in gonadoblastoma in an XY female
Sylvie Antonini
Angela S. Barbosa
A. M. Vianna-Morgante
Original investigation Pages: 181 - 185
No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome
Rachel Pesso
G. Barkai
E. Friedman
Original investigation Pages: 186 - 189
Identification of an amplified gene cluster in glioma including two novel amplified genes isolated by exon trapping
Hans-Werner Mueller
Armin Michel
E. Meese
Original investigation Pages: 190 - 197
The human lysyl oxidase-like gene maps between STS markers D15S215 and GHLC.GCT7C09 on chromosome 15
Zoltán Szabó
Elizabeth Light
K. Csiszár
Original investigation Pages: 198 - 200
Pepsinogen polymorphism in the Indian population and its association with duodenal ulcer
A. Venkateshwari
A. Vidyasagar
N. Pratibha
Original investigation Pages: 201 - 204
Assignment of human plasma methylumbelliferyl-tetra-N-acetylchitotetraoside hydrolase or chitinase to chromosome 1q by a linkage study
H. Eiberg
Wilfried Richard Den Tandt
Original investigation Pages: 205 - 207
Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation
M. De Braekeleer
Christian Allard
Gervais Aubin
Original investigation Pages: 208 - 211
Genetic linkage study of a major susceptibility locus (D2S125) in a British population of non-insulin dependent diabetic sib-pairs using a simple non-isotopic screening method
Andrew W. Thomas
Emma J. Sherratt
John C. Alcolado
Original investigation Pages: 212 - 213
Sequence analysis of long FMR1 arrays in the Japanese population: insights into the generation of long (CGG)_n tracts
M. C. Hirst
Tadao Arinami
Charles D. Laird
Original investigation Pages: 214 - 218
Asynchronous replication of p53 and 21q22 loci in chronic lymphocytic leukemia
A. Amiel
Tali Litmanovich
Moshe D. Fejgin
Original investigation Pages: 219 - 222
Dual blastomere analysis improves reliability of preimplantation trembler mouse diagnosis
H. Sago
H.-S. Kim
Roger V. Lebo
Original investigation Pages: 223 - 228
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene
Miguel Viribay
Tomohito Hayashi
José L. San Millán
Original investigation Pages: 229 - 234
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis
E. van de Vosse
Brunella Franco
Arthur A. B. Bergen
Original investigation Pages: 235 - 237
Familial Mediterranian fever: clastogenic plasma factors correlated with increased O₂ ^–– production by neutrophils
T. Sarkisian
I. Emerit
P. Filipe
Original investigation Pages: 238 - 242
Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects
J. Gelernter
Henry Kranzler
Joseph F. Cubells
Rapid communication Pages: 243 - 246
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency
Béatrice Parfait
Agnès Percheron
Agnès Rötig
Rapid communication Pages: 247 - 250

Volume 101, Issue 2

An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants

Association of transferrin C2 allele with late-onset Alzheimer’s disease

Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel

Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency

Evidence for convergent evolution of A and B blood group antigens in primates

A novel source of highly specific chromosome painting probes for human karyotype analysis derived from primate homologues

Gene structure and allelic expression assay of the human GLI3 gene

ACP1 and human adaptability 2. Association with season of conception

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the β subunit gene (PHKB)

Inv(10)(p11.2q21.2), a variant chromosome

RB1 deletion in gonadoblastoma in an XY female

No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome

Identification of an amplified gene cluster in glioma including two novel amplified genes isolated by exon trapping

The human lysyl oxidase-like gene maps between STS markers D15S215 and GHLC.GCT7C09 on chromosome 15

Pepsinogen polymorphism in the Indian population and its association with duodenal ulcer

Assignment of human plasma methylumbelliferyl-tetra-N-acetylchitotetraoside hydrolase or chitinase to chromosome 1q by a linkage study

Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation

Genetic linkage study of a major susceptibility locus (D2S125) in a British population of non-insulin dependent diabetic sib-pairs using a simple non-isotopic screening method

Sequence analysis of long FMR1 arrays in the Japanese population: insights into the generation of long (CGG)_n tracts

Asynchronous replication of p53 and 21q22 loci in chronic lymphocytic leukemia

Dual blastomere analysis improves reliability of preimplantation trembler mouse diagnosis

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

Familial Mediterranian fever: clastogenic plasma factors correlated with increased O₂ ^–– production by neutrophils

Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency

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