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Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

European journal of human genetics : EJHG, 2004-11, Vol.12 (11), p.979-982

2004

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SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6

European journal of human genetics : EJHG, 2003-08, Vol.11 (8), p.629-632

2003

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Traumatic left lateral C2 epiphysiorhexis in a 3-year-old girl--a case report

European journal of pediatric surgery, 2011-12, Vol.21 (6), p.412-414

2011

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The catastrophic antiphospholipid antibody syndrome: case report and review of the literature

Nervenarzt, 2015-02, Vol.86 (2), p.205-209

2015

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The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia

Journal of molecular medicine (Berlin, Germany), 2001, Vol.78 (11), p.626-632

2001

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Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

European journal of human genetics : EJHG, 2001-03, Vol.9 (3), p.160-164

2001

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Mutation of the start codon in the FRDA1 gene : linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

Human genetics, 1998-07, Vol.103 (1), p.102-105

1998

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Spectrin mutations cause spinocerebellar ataxia type 5

Nature genetics, 2006-02, Vol.38 (2), p.184-190

2006

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Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin

Human molecular genetics, 1993-09, Vol.2 (9), p.1467-1469

1993

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Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain

Brain research. Molecular brain research., 2000-11, Vol.83 (1), p.125-127

2000

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Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

Human molecular genetics, 1993-12, Vol.2 (12), p.2063-2067

1993

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Allele distribution of a highly polymorphic repeat on chromosome 12 in patients with symptoms of chorea and ataxia

Journal of medical genetics, 1995-07, Vol.32 (7), p.577-578

1995

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Genomic organization of the human NFAT5 gene: exon-intron structure of the 14-kb transcript and CpG-island analysis of the promoter region

Cytogenetic and genome research, 2001-01, Vol.93 (3-4), p.239-241

2001

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CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles

Human genetics, 1997-09, Vol.100 (3-4), p.339-344

1997

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Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

European journal of human genetics : EJHG, 2005-01, Vol.13 (1), p.118-120

2005

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Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy

Prenatal diagnosis, 2000-01, Vol.20 (1), p.66-69

2000

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Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domains

Cytogenetic and genome research, 2000-01, Vol.90 (1-2), p.68-70

2000

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Down syndrome and male fertility: PCR-derived fingerprinting, serological and andrological investigations

Clinical genetics, 1994-10, Vol.46 (4), p.324-326

1994

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hSKCa3: a candidate gene for schizophrenia?

Psychiatric genetics, 1999-06, Vol.9 (2), p.91-96

1999

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R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1

Ophthalmologica (Basel), 2001-11, Vol.215 (6), p.444-447

2001

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Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles

European journal of human genetics : EJHG, 2002-03, Vol.10 (3), p.204-209

2002

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Huntington chorea. Molecular genetic principles, mutation detection and predictive diagnosis

Nervenarzt, 1996-01, Vol.67 (1), p.25-35

1996

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Linkage Disequilibrium and Haplotype Analysis in German Friedreich Ataxia Families

Human heredity, 1999-01, Vol.49 (2), p.90-96

1999

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Allele frequencies of DNA markers genetically linked to Friedreich ataxia in the German population

Human heredity, 1993-03, Vol.43 (2), p.78-81

1993

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Mode of Inheritance and Susceptibility Locus for Restless Legs Syndrome, on Chromosome 12q

American journal of human genetics, 2002-07, Vol.71 (1), p.205-208

2002

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Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6

Traumatic left lateral C2 epiphysiorhexis in a 3-year-old girl--a case report

The catastrophic antiphospholipid antibody syndrome: case report and review of the literature

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

Mutation of the start codon in the FRDA1 gene : linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

Spectrin mutations cause spinocerebellar ataxia type 5

Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin

Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

Allele distribution of a highly polymorphic repeat on chromosome 12 in patients with symptoms of chorea and ataxia

Genomic organization of the human NFAT5 gene: exon-intron structure of the 14-kb transcript and CpG-island analysis of the promoter region

CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy

Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domains

Down syndrome and male fertility: PCR-derived fingerprinting, serological and andrological investigations

hSKCa3: a candidate gene for schizophrenia?

R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles

Huntington chorea. Molecular genetic principles, mutation detection and predictive diagnosis

Linkage Disequilibrium and Haplotype Analysis in German Friedreich Ataxia Families

Allele frequencies of DNA markers genetically linked to Friedreich ataxia in the German population

Mode of Inheritance and Susceptibility Locus for Restless Legs Syndrome, on Chromosome 12q

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