Volume 98, Issue 3

Search all Human Genetics articles

July 1996

24 articles in this issue

Detection of amplified genomic sequences in human small-cell lung carcinoma cells by arbitrarily primed-PCR genomic fingerprinting
Tomoko Okazaki
Junko Takita
J. Yokota
Original investigation Pages: 253 - 258
Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene
O. Windl
Maureen Dempster
J. Collinge
Original investigation Pages: 259 - 264
Characterization of double minute chromosomes’ DNA content in a human high grade astrocytoma cell line by using comparative genomic hybridization and fluorescence in situ hybridization
Michel Giollant
Suzanne Bertrand
A Tchirkov
Original investigation Pages: 265 - 270
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
Damjan Glavač
Hartmut P. H. Neumann
Hiltrud Brauch
Original investigation Pages: 271 - 280
β-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients
M. Rafiqul Islam
R. Vervoort
W. S. Sly
Original investigation Pages: 281 - 284
Polymorphisms of apolipoproteins A-IV and E in a Turkish population living in Germany
E. Malle
K. P. Pfeiffer
A. Steinmetz
Original investigation Pages: 285 - 290
A jumping Robertsonian translocation: a molecular and cytogenetic study
S. J. Gross
Avirachan T. Tharapel
V. M. Park
Original investigation Pages: 291 - 296
A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia
Matthias Drechsler
B. Royer-Pokora
Original investigation Pages: 297 - 303
Haplotype identity between individuals who share a CFTR mutation allele “identical by descent”: demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations
Hendrik G. de Vries
M. A. van der Meulen
G. J. te Meerman
Original investigation Pages: 304 - 309
Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation
Hilmi Ozcelik
Yael J. Antebi
I. L. Andrulis
Original investigation Pages: 310 - 312
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency
Tze-Tze Liu
Kwang-Jen Hsiao
Original investigation Pages: 313 - 316
Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved
Isabella Mammi
David E. Iles
R. Tenconi
Original investigation Pages: 317 - 320
Yeast artificial chromosome mapping of the cystinosis locus on chromosome 17p by fluorescence in situ hybridization
Ingrid Stec
Ulrike Peters
Thomas Deufel
Original investigation Pages: 321 - 322
Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation
Mohamed Boutouil
Raouf Fetni
N. Lemieux
Original investigation Pages: 323 - 327
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test
Marie-Catherine Romey
Sylvie Tuffery
M. Claustres
Original investigation Pages: 328 - 332
Identification of a variable number tandem repeat region in the human T cell receptor alpha-delta (TCRAD) locus
Heidi Buchmayer
Helmut Rumpold
C. Mannhalter
Original investigation Pages: 333 - 335
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France
M. Claustres
Marie Desgeorges
Xavier Estivill
Original investigation Pages: 336 - 344
Prevalence of α-thalassemias in northern Thailand
M. Lemmens-Zygulska
A. Eigel
G. Flatz
Original investigation Pages: 345 - 347
A new polymorphism of arylsulfatase A within the coding region
J. Berger
Marion Gmach
Hanno Bernheimer
Original investigation Pages: 348 - 350
Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases
M. Krawczak
Adam Wacey
David N. Cooper
Original investigation Pages: 351 - 370
Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family
Joachim Bürger
Hermann Metzke
André Reis
Original investigation Pages: 371 - 375
Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population
M. T. Tusié-Luna
Salvador Ramírez-Jiménez
Margarita Terán-García
Original investigation Pages: 376 - 379
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval
B. Fontaine
Sophie Nicole
Frank Lehmann-Horn
Original investigation Pages: 380 - 385
Secretory phospholipase A₂ does not appear to be associated with phenotypic variation in familial adenomatous polyposis
Zuzana Dobbie
Hansjakob Müller
R. J. Scott
Rapid communication Pages: 386 - 390

Volume 98, Issue 3

Detection of amplified genomic sequences in human small-cell lung carcinoma cells by arbitrarily primed-PCR genomic fingerprinting

Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene

Characterization of double minute chromosomes’ DNA content in a human high grade astrocytoma cell line by using comparative genomic hybridization and fluorescence in situ hybridization

Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe

β-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients

Polymorphisms of apolipoproteins A-IV and E in a Turkish population living in Germany

A jumping Robertsonian translocation: a molecular and cytogenetic study

A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia

Haplotype identity between individuals who share a CFTR mutation allele “identical by descent”: demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations

Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency

Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved

Yeast artificial chromosome mapping of the cystinosis locus on chromosome 17p by fluorescence in situ hybridization

Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation

Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test

Identification of a variable number tandem repeat region in the human T cell receptor alpha-delta (TCRAD) locus

CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France

Prevalence of α-thalassemias in northern Thailand

A new polymorphism of arylsulfatase A within the coding region

Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family

Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

Secretory phospholipase A₂ does not appear to be associated with phenotypic variation in familial adenomatous polyposis

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