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Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency

American journal of human genetics, 2001-07, Vol.69 (1), p.15-24

2001

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Mutation of PAX9 is associated with oligodontia

Nature genetics, 2000-01, Vol.24 (1), p.18-19

2000

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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Clinical genetics, 2007-06, Vol.71 (6), p.540-550

2007

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Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers : application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine

Human genetics, 2005-12, Vol.118 (3-4), p.382-392

2005

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The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure

American journal of human genetics, 1998-01, Vol.62 (1), p.111-121

1998

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Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae

Human molecular genetics, 2000-10, Vol.9 (17), p.2523-2530

2000

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Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

American journal of human genetics, 2003-12, Vol.73 (6), p.1302-1315

2003

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Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies

Journal of neuroscience research, 2002-08, Vol.69 (4), p.497-508

2002

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Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

Human genetics, 2002-04, Vol.110 (4), p.371-376

2002

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Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia

American journal of medical genetics. Part A, 2003-04, Vol.118A (1), p.35-42

2003

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A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia

Clinical genetics, 2011-09, Vol.80 (3), p.265-272

2011

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Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

American journal of human genetics, 1997-05, Vol.60 (5), p.1251-1256

1997

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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

Nature genetics, 1992-12, Vol.2 (4), p.292-300

1992

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Cell, 1991-07, Vol.66 (2), p.219-232

1991

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Evidence that a gene for essential tremor maps to chromosome 2p in four families

Movement disorders, 1998-11, Vol.13 (6), p.972-977

1998

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Human molecular genetics, 1994-02, Vol.3 (2), p.223-228

1994

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Recombination hot spots and human disease

Genome research, 1997-08, Vol.7 (8), p.773

1997

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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

Nature genetics, 1992-06, Vol.1 (3), p.159-165

1992

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Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

The New England journal of medicine, 1993-07, Vol.329 (2), p.96-101

1993

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Charcot-Marie-tooth disease: a new paradigm for the mechanism of inherited disease

Trends in Genetics, 1994-04, Vol.10 (4), p.128-133

1994

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Clinical, Radiographic, and Genetic Evaluation of a Novel Form of Autosomal-dominant Oligodontia

Journal of dental research, 2000-07, Vol.79 (7), p.1469-1475

2000

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Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells

Brain research, 2000-05, Vol.865 (1), p.12-16

2000

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Mapping of genes predisposing to idiopathic generalized epilepsy

Human molecular genetics, 1995-07, Vol.4 (7), p.1201-1207

1995

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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

American journal of human genetics, 1996-05, Vol.58 (5), p.998-1007

1996

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Molecular analysis of the Smith-Magenis syndrome : a possible contiguous-gene syndrome associated with del(17)(p11.2)

American journal of human genetics, 1991-12, Vol.49 (6), p.1207-1218

1991

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Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency

Mutation of PAX9 is associated with oligodontia

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers : application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine

The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae

Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Evidence that a gene for essential tremor maps to chromosome 2p in four families

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Recombination hot spots and human disease

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

Charcot-Marie-tooth disease: a new paradigm for the mechanism of inherited disease

Clinical, Radiographic, and Genetic Evaluation of a Novel Form of Autosomal-dominant Oligodontia

Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells

Mapping of genes predisposing to idiopathic generalized epilepsy

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

Molecular analysis of the Smith-Magenis syndrome : a possible contiguous-gene syndrome associated with del(17)(p11.2)

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