Volume 100, Issue 2

Search all Human Genetics articles

July 1997

27 articles in this issue

Towards a unified nomenclature describing voltage-gated calcium channel genes
Philippe Lory
Roel A. Ophoff
Joseph Nahmias
Review article Pages: 149 - 150
Assignment of human genes for β2 and β4 subunits of voltage-dependent Ca²⁺ channels to chromosomes 10p12 and 2q22-q23
S. Taviaux
M. E. Williams
P. Lory
Original investigation Pages: 151 - 154
Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan
Mingli Hsieh
Hui-Fang Tsai
S.-Y. Li
Original investigation Pages: 155 - 162
Mistyping frequency of the angiotensin-converting enzyme gene polymorphism and an improved method for its avoidance
M. Odawara
Ayako Matsunuma
Kamejiro Yamashita
Original investigation Pages: 163 - 166
A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes
M. R. Wilson
Deborah Polanskey
Bruce Budowle
Original investigation Pages: 167 - 171
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
Erich Roessler
Deeann E. Ward
M. Muenke
Original investigation Pages: 172 - 181
How common are common fragile sites: variation of aphidicolin-induced chromosomal fragile sites in a population of the deer mouse (Peromyscus maniculatus)
B. F. McAllister
I. F. Greenbaum
Original investigation Pages: 182 - 188
Phenylketonuria and the peoples of Northern Ireland
J. Zschocke
J. P. Mallory
Norman C. Nevin
Original investigation Pages: 189 - 194
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype
Patrick Booms
Anne P. Withers
P. N. Robinson
Original investigation Pages: 195 - 200
A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden
A. Sillén
Sten Jagell
Claes Wadelius
Original investigation Pages: 201 - 203
Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus
M. Clementi
Romano Tenconi
Mario Milan
Original investigation Pages: 204 - 209
Angiotensinogen and angiotensin-I converting enzyme gene polymorphisms and the risk of coronary artery disease in Chinese
Y.-L. Ko
S.-M. Wang
Ying-Shiung Lee
Original investigation Pages: 210 - 214
Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis
Christiane Wüchner
Katja Hilbert
A. Winterpacht
Original investigation Pages: 215 - 219
A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype
M. Hergersberg
Jaya Balakrishnan
Naseem Malik
Original investigation Pages: 220 - 223
Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients
S. M. Klauck
Ewald Münstermann
Fritz Poustka
Original investigation Pages: 224 - 229
Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa
H. Scheffer
Rein P. Stulp
Marcel F. Jonkman
Original investigation Pages: 230 - 235
FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes
E. Rao
B. Weiss
G. A. Rappold
Original investigation Pages: 236 - 239
Evidence for balancing of KM, but not GM, alleles by heterotic advantage in South Amerinds
F. L. Black
Janardan P. Pandey
Original investigation Pages: 240 - 244
Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease
D. Helley
Claude Besmond
Jacques Elion
Original investigation Pages: 245 - 248
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene
Mara Giordano
Cristina Marchetti
P. Momigliano Richiardi
Original investigation Pages: 249 - 255
Deletions in Xq26.3–q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern
D. J. Wolff
Karen M. Gustashaw
Huntington F. Willard
Original investigation Pages: 256 - 262
Identification of a four-base deletion (delTCAT_296–299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression
P. Vreken
R. Meinsma
A. B. P. Van Kuilenburg
Original investigation Pages: 263 - 265
Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics
A. V. Peeters
Luc F. Van Gaal
Maritha J. Kotze
Original investigation Pages: 266 - 270
Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization
S. Müller
M. Rocchi
J. Wienberg
Original investigation Pages: 271 - 278
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities
Marie Desgeorges
André Mégarbané
M. Claustres
Original investigation Pages: 279 - 283
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
A. Verrips
Gerry C. H. Steenbergen-Spanjers
Lambert P. W. J. van den Heuvel
Original investigation Pages: 284 - 286
Evidence of a third locus in X-linked recessive spastic paraplegia
R. Steinmüller
A. Lantigua-Cruz
U. Müller
Letter to the editors Pages: 287 - 289

Volume 100, Issue 2

Towards a unified nomenclature describing voltage-gated calcium channel genes

Assignment of human genes for β2 and β4 subunits of voltage-dependent Ca²⁺ channels to chromosomes 10p12 and 2q22-q23

Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan

Mistyping frequency of the angiotensin-converting enzyme gene polymorphism and an improved method for its avoidance

A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

How common are common fragile sites: variation of aphidicolin-induced chromosomal fragile sites in a population of the deer mouse (Peromyscus maniculatus)

Phenylketonuria and the peoples of Northern Ireland

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden

Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus

Angiotensinogen and angiotensin-I converting enzyme gene polymorphisms and the risk of coronary artery disease in Chinese

Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients

Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes

Evidence for balancing of KM, but not GM, alleles by heterotic advantage in South Amerinds

Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease

Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene

Deletions in Xq26.3–q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

Identification of a four-base deletion (delTCAT_296–299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

Evidence of a third locus in X-linked recessive spastic paraplegia

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