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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

Neurology, 1999-04, Vol.52 (6), p.1255

1999

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Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions

Nucleic acids research, 1991-03, Vol.19 (5), p.1155-1155

1991

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A testis-specific form of the human pyruvate dehydrogenase E1α subunit is coded for by an intronless gene on chromosome 4

Genomics (San Diego, Calif.), 1990-10, Vol.8 (2), p.225-232

1990

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A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion

Human genetics, 1995, Vol.95 (1), p.75-81

1995

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Late Diagnosis of Maternal PKU in a Family Segregating an Arylsulfatse E Mutation Causing Symmetrical Chondrodysplasia Punctata

Molecular genetics and metabolism, 1999-12, Vol.68 (4), p.503-506

1999

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Leigh syndrome: Clinical features and biochemical and DNA abnormalities

Annals of neurology, 1996-03, Vol.39 (3), p.343-351

1996

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The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children

Journal of medical genetics, 2006-11, Vol.43 (11), p.850-855

2006

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Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations

Neurology, 1997-12, Vol.49 (6), p.1655

1997

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Detection and localization of base changes in RNA using a chemical cleavage method

Analytical biochemistry, 1989-12, Vol.183 (2), p.263-268

1989

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Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

Journal of medical genetics, 2001-01, Vol.38 (1), p.20-25

2001

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Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization

Genomics (San Diego, Calif.), 1987, Vol.1 (1), p.67-70

1987

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Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation

Journal of inherited metabolic disease, 1999-12, Vol.22 (8), p.899-914

1999

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Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again

American journal of human genetics, 1995-03, Vol.56 (3), p.553-557

Dahl, H H

1995

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Mitochondrial diseases: Beyond the magic circle

American journal of medical genetics, 2001, Vol.106 (1), p.1-3

2001

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Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults

Human reproduction (Oxford), 2000-07, Vol.15 (suppl-2), p.246-255

2000

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Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

The Journal of pediatrics, 1997-01, Vol.130 (1), p.138-145

1997

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Prevalence and nature of connexin 26 mutations in children with non‐syndromic deafness

Medical journal of Australia, 2001-08, Vol.175 (4), p.191-194

2001

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A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype

Journal of medical genetics, 2003-02, Vol.40 (2), p.e15-15

2003

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Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata

Journal of medical genetics, 1998-12, Vol.35 (12), p.1004-1008

1998

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The construction of cosmid libraries which can be used to transform eukaryotic cells

Nucleic acids research, 1982-11, Vol.10 (21), p.6715-6732

1982

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Clinical spectrum and diagnosis of mitochondrial disorders

American journal of medical genetics, 2001-03, Vol.106 (1), p.4-17

2001

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Characterization of Point Mutations in the Collagen COL1A1 and COL1A2 Genes Causing Lethal Perinatal Osteogenesis Imperfecta

The Journal of biological chemistry, 1989-09, Vol.264 (27), p.15809-15812

1989

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Transcriptional Expression of a Testis-Specific Variant of the Mouse Pyruvate Dehydrogenase Elα Subunit1

Biology of reproduction, 1992-07, Vol.47 (1), p.48-58

1992

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The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA

The Journal of biological chemistry, 1987-05, Vol.262 (15), p.7398-7403

1987

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Isolation and sequence of a cDNA clone which contains the complete coding region of rat phenylalanine hydroxylase. Structural homology with tyrosine hydroxylase, glucocorticoid regulation, and use of alternate polyadenylation sites

The Journal of biological chemistry, 1986-03, Vol.261 (9), p.4148-4153

1986

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions

A testis-specific form of the human pyruvate dehydrogenase E1α subunit is coded for by an intronless gene on chromosome 4

A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion

Late Diagnosis of Maternal PKU in a Family Segregating an Arylsulfatse E Mutation Causing Symmetrical Chondrodysplasia Punctata

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations

Detection and localization of base changes in RNA using a chemical cleavage method

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again

Mitochondrial diseases: Beyond the magic circle

Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

Prevalence and nature of connexin 26 mutations in children with non‐syndromic deafness

A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype

Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata

The construction of cosmid libraries which can be used to transform eukaryotic cells

Clinical spectrum and diagnosis of mitochondrial disorders

Characterization of Point Mutations in the Collagen COL1A1 and COL1A2 Genes Causing Lethal Perinatal Osteogenesis Imperfecta

Transcriptional Expression of a Testis-Specific Variant of the Mouse Pyruvate Dehydrogenase Elα Subunit1

The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA

Isolation and sequence of a cDNA clone which contains the complete coding region of rat phenylalanine hydroxylase. Structural homology with tyrosine hydroxylase, glucocorticoid regulation, and use of alternate polyadenylation sites

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