Volume 99, Issue 6

Search all Human Genetics articles

May 1997

24 articles in this issue

Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation
Kazuo Isozumi
Robert DeLong
T. Siddique
Original investigation Pages: 701 - 703
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
Svetlana Lajic
Antti Levo
A. Wedell
Original investigation Pages: 704 - 709
The role of oxygen metabolism for the pathological phenotype of Fanconi anemia
Werner Ruppitsch
Claudia Meißlitzer
M. Hirsch-Kauffmann
Original investigation Pages: 710 - 719
Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients
M. Carmen Valero
Ignacio Pascual-Castroviejo
Concepción Hernández-Chico
Original investigation Pages: 720 - 726
DNA polymorphisms in the 5′-flanking region of the human tissue kallikrein gene
Qing Song
Julie Chao
L. Chao
Original investigation Pages: 727 - 734
Interstitial telomeric sequences at the junction site of a jumping translocation
Joris Robert Vermeesch
Paul Petit
P. Marynen
Original investigation Pages: 735 - 737
α-Satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues
Pierre Miniou
Marc Jeanpierre
E. Viegas-Péquignot
Original investigation Pages: 738 - 745
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
Sylvia Bort
E. Nelis
F. Palau
Original investigation Pages: 746 - 754
Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients
J. D. A. Delhanty
Joyce C. Harper
Robert M. L. Winston
Original investigation Pages: 755 - 760
Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei
P. Colls
J. Blanco
C. Templado
Original investigation Pages: 761 - 765
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
Mauro Piantanida
Claudia Dellavecchia
O. Zuffardi
Original investigation Pages: 766 - 771
Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients
Miguel Angel Pujana
Lourdes Martorell
X. Estivill
Original investigation Pages: 772 - 775
Fine mapping of the MLK-3 gene within 11q13 and its exclusion as the MEN1 susceptibility gene
N. J. Lassam
Zheng Lin
Catharina Larsson
Original investigation Pages: 776 - 780
A second family with XLRH displays the mutation S244L in the CLCN5 gene
C. Oudet
Dominique Martin-Coignard
André Hanauer
Original investigation Pages: 781 - 784
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency
Cécile Marsac
Chantal Benelli
Willy Lissens
Original investigation Pages: 785 - 792
The identification of a (CGG)₆AGG insertion within the CGG repeat of the FMR1 gene in Asians
S.-H. Chen
Jonathan M. Schoof
C. Ronald Scott
Original investigation Pages: 793 - 795
Simultaneous detection of size and sequence polymorphisms in the transcribed trinucleotide repeat D2S196E (EST00493)
Luciana A. Haddad
Alberto K. Fuzikawa
Sérgio D. J. Pena
Original investigation Pages: 796 - 800
HLA-DRA promoter polymorphism and diversity generation within the immune system
L. M. Schwiebert
Austin Hughes
S. J. Ono
Original investigation Pages: 801 - 805
Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations
K. Madan
A. W. M. Nieuwint
Y. van Bever
Original investigation Pages: 806 - 815
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany
P. le Coutre
A. Demina
P. E. Petrides
Original investigation Pages: 816 - 821
Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis
H. Baranova
J. Perriot
Paul Malet
Original investigation Pages: 822 - 826
Putative association of a mutant ROM1 allele with retinitis pigmentosa
Amalia Martínez-Mir
Concha Vilela
Lluïsa Vilageliu
Rapid communication Pages: 827 - 830
Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15
Lut Van Laer
Guy Van Camp
Patrick J. Willems
Rapid communication Pages: 831 - 833
Differential stability of the (GAA)_n tract in the Friedreich ataxia (STM7) gene
C. Epplen
Jörg T. Epplen
Ludger Schöls
Rapid communication Pages: 834 - 836

Volume 99, Issue 6

Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation

A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction

The role of oxygen metabolism for the pathological phenotype of Fanconi anemia

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients

DNA polymorphisms in the 5′-flanking region of the human tissue kallikrein gene

Interstitial telomeric sequences at the junction site of a jumping translocation

α-Satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients

Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients

Fine mapping of the MLK-3 gene within 11q13 and its exclusion as the MEN1 susceptibility gene

A second family with XLRH displays the mutation S244L in the CLCN5 gene

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

The identification of a (CGG)₆AGG insertion within the CGG repeat of the FMR1 gene in Asians

Simultaneous detection of size and sequence polymorphisms in the transcribed trinucleotide repeat D2S196E (EST00493)

HLA-DRA promoter polymorphism and diversity generation within the immune system

Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations

Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany

Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis

Putative association of a mutant ROM1 allele with retinitis pigmentosa

Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15

Differential stability of the (GAA)_n tract in the Friedreich ataxia (STM7) gene

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