Volume 105, Issue 1-2

Search all Human Genetics articles

August 1999

33 articles in this issue

Human Genetics announces Online First publication

Editorial 14 April 2014 Pages: 1 - 1
Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations
De-Ann M. Pillers
K.M. Fitzgerald
R.G. Weleber
Original Investigation 21 July 1999 Pages: 2 - 9
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
Toshiyuki Yamamoto
Eiji Nanba
Kousaku Ohno
Original Investigation 08 July 1999 Pages: 10 - 16
Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma
F. von Deimling
J.M. Scharf
B. Wirth
Original Investigation 28 June 1999 Pages: 17 - 27
BRCA1 mutations in African Americans
R.C.K. Panguluri
L.C. Brody
G.M. Dunston
Original Investigation 28 June 1999 Pages: 28 - 31
A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers
S.E. Poduslo
X. Yin
J. Schwankhaus
Original Investigation 17 July 1999 Pages: 32 - 37
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype
M.A. Maxwell
P.V. Nelson
D.I. Crane
Original Investigation 02 July 1999 Pages: 38 - 44
Mutation analysis of hereditary multiple exostoses in the Chinese
L. Xu
J. Xia
H.-X. Deng
Original Investigation 28 June 1999 Pages: 45 - 50
Transcript identification on the CLN5 region on chromosome 13q22
T. Klockars
V. Holmberg
L. Peltonen
Original Investigation 28 June 1999 Pages: 51 - 56
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus
I. Zito
D.L. Thiselton
A.J. Hardcastle
Original Investigation 21 July 1999 Pages: 57 - 62
Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations
H. Mehdi
C.E. Aston
M.I. Kamboh
Original Investigation 28 June 1999 Pages: 63 - 71
A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC
E. Gross
N. Arnold
M. Kiechle
Original Investigation 15 July 1999 Pages: 72 - 78
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer
Q. Wang
C. Lasset
A. Puisieux
Original Investigation 22 July 1999 Pages: 79 - 85
FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes
J. Yeshaya
R. Shalgi
L. Avivi
Original Investigation 14 April 2014 Pages: 86 - 97
The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene
S. Nicole
P.S. White
B. Fontaine
Original Investigation 28 June 1999 Pages: 98 - 103
Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes
M. Smith
S. Herrell
T. Strachan
Original Investigation 08 July 1999 Pages: 104 - 111
A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution
M.N. Helwani
M. Seoud
R. Slim
Original Investigation 01 July 1999 Pages: 112 - 115
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset
M. Wichers
W. Köhler
M. Ludwig
Original Investigation 01 July 1999 Pages: 116 - 119
Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation
H. Ida
O.M. Rennert
Y. Eto
Original Investigation 01 July 1999 Pages: 120 - 126
A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome
P. Lertrit
A. Imsumran
N. Neungton
Original Investigation 19 July 1999 Pages: 127 - 131
Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines
P.R. Prince
C.E. Ogburn
R.J. Monnat Jr
Original Investigation 28 June 1999 Pages: 132 - 138
Genomic structure and expression analysis of the spastic paraplegia gene, SPG7
C. Settasatian
S.A. Whitmore
D.F. Callen
Original Investigation 01 July 1999 Pages: 139 - 144
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone
M.-C. Romey
C. Guittard
M. Claustres
Original Investigation 28 June 1999 Pages: 145 - 150
The frequency of lysosomal storage diseases in The Netherlands
B.J.H.M. Poorthuis
R.A. Wevers
O.P. van Diggelen
Original Investigation 14 April 2014 Pages: 151 - 156
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency
F.M. Vaz
H.R. Scholte
R.J.A. Wanders
Original Investigation 08 July 1999 Pages: 157 - 161
Physical mapping of the G-protein coupled receptor 19 (GPR19) in the chromosome 12p12.3 region frequently rearranged in cancer cells
A. Montpetit
D. Sinnett
Short Report 21 July 1999 Pages: 162 - 164
CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia
M. Gennarelli
M. Pavoni
G. Novelli
Short Report 01 July 1999 Pages: 165 - 167
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin
Vanita Berry
Donna Mackay
Shomi S. Bhattacharya
Short Report 01 July 1999 Pages: 168 - 170
A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16
S.A.M. Thomson
S.A. Rasmussen
M.R. Wallace
Short Report 28 June 1999 Pages: 171 - 173
The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)
R.A. Philibert
S.L. Winfield
E.I. Ginns
Short Report 08 July 1999 Pages: 174 - 178
Association between M/L55-polymorphism of paraoxonase enzyme and oxidative DNA damage in patients with type 2 diabetes mellitus and in control subjects
R. Malin
V. Rantalaiho
T. Lehtimäki
Short Report 14 April 2014 Pages: 179 - 180
Chromosome 9qh inversions may not be true inversions
Horacio Rivera
Melva Gutiérrez-Angulo
Juan Ramón González-Garcia
Letter to the Editor 01 July 1999 Pages: 181 - 182
A reply: pericentric inversion of chromosome 9qh are “real” but the mechanisms of their origin are highly complex
Ram S. Verma
Letter to the Editor 01 July 1999 Pages: 183 - 184

Volume 105, Issue 1-2

Human Genetics announces Online First publication

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma

BRCA1 mutations in African Americans

A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

Mutation analysis of hereditary multiple exostoses in the Chinese

Transcript identification on the CLN5 region on chromosome 13q22

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus

Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations

A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes

The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene

Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes

A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution

X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset

Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation

A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome

Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines

Genomic structure and expression analysis of the spastic paraplegia gene, SPG7

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone

The frequency of lysosomal storage diseases in The Netherlands

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

Physical mapping of the G-protein coupled receptor 19 (GPR19) in the chromosome 12p12.3 region frequently rearranged in cancer cells

CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16

The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)

Association between M/L55-polymorphism of paraoxonase enzyme and oxidative DNA damage in patients with type 2 diabetes mellitus and in control subjects

Chromosome 9qh inversions may not be true inversions

A reply: pericentric inversion of chromosome 9qh are “real” but the mechanisms of their origin are highly complex

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