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Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Molecular genetics and metabolism, 2009, Vol.96 (1), p.38-43

2009

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Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

Archives of disease in childhood, 2009-01, Vol.94 (1), p.55-58

2009

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Biochemical characterization of pectate lyases produced by fluorescent pseudomonads associated with spoilage of fresh fruits and vegetables

Journal of applied microbiology, 1997-07, Vol.83 (1), p.10-16

1997

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Somatic instability of the DNA sequences encoding the polymorphic polyglutamine tract of the AIB1 gene

Journal of medical genetics, 2003-12, Vol.40 (12), p.885-890

2003

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Patterns of Genetic Variation in the Hypertension Candidate Gene GRK4: Ethnic Variation and Haplotype Structure

Annals of human genetics, 2006-01, Vol.70 (1), p.27-41

2006

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A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency

Journal of medical genetics, 2006-09, Vol.43 (9), p.e46-e46

2006

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Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile?

Journal of medical genetics, 2004-05, Vol.41 (5), p.e65-e65

2004

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Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load

Journal of medical genetics, 2003-11, Vol.40 (11), p.e125-125

2003

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MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation

Journal of medical genetics, 2004-02, Vol.41 (2), p.125-129

2004

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Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy

European journal of pediatrics, 1997-07, Vol.156 (7), p.562-564

1997

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Is the Variable Clinical Phenotype Associated with the T8993G Narp (Neuropathy, Ataxia, Retinitis Pigmentosa) Mitochondrial Dna Mutation Solely a Function of Degree of Heteroplasmy?

Journal of investigative medicine, 2004-01, Vol.52 (1_suppl_part_2), p.133-134

2004

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CAG repeat size and clinical presentation in Huntington's disease

Neurology, 1994-06, Vol.44 (6), p.1137

1994

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Macular Pattern Retinal Dystrophy, Adult-onset Diabetes, and Deafness: A Family Study of A3243G Mitochondrial Heteroplasmy

American journal of ophthalmology, 1997-08, Vol.124 (2), p.217-221

1997

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Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation

Journal of inherited metabolic disease, 2004-01, Vol.27 (2), p.157-163

2004

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IS THE VARIABLE CLINICAL PHENOTYPE ASSOCIATED WITH THE T8993G NARP (NEUROPATHY, ATAXIA, RETINITIS PIGMENTOSA) MITOCHONDRIAL DNA MUTATION SOLELY A FUNCTION OF DEGREE OF HETEROPLASMY?: 312

Journal of investigative medicine, 2004-01, Vol.52, p.S133-S134

2004

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Preparation and validation of PCR-generated positive controls for diagnostic dot blotting

Clinical chemistry (Baltimore, Md.), 1998-07, Vol.44 (7), p.1578-1579

1998

Volltextzugriff (PDF)

312 IS THE VARIABLE CLINICAL PHENOTYPE ASSOCIATED WITH THE T8993G NARP (NEUROPATHY, ATAXIA, RETINITIS PIGMENTOSA) MITOCHONDRIAL DNA MUTATION SOLELY A FUNCTION OF DEGREE OF HETEROPLASMY?

Journal of investigative medicine, 2004-01, Vol.52 (Suppl 1), p.S133-S134

2004

Volltextzugriff (PDF)

Vomiting, anorexia, and mitochondrial DNA disease

The Lancet (British edition), 1998-02, Vol.351 (9100), p.448-448

1998

Volltextzugriff (PDF)

Novel nucleotide substitutions in mitochondrial DNA

Journal of inherited metabolic disease, 1998-12, Vol.21 (8), p.871-873

1998

Volltextzugriff (PDF)

Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation

Journal of medical genetics, 1998-01, Vol.35 (1), p.84-85

1998

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Effects of substrates on the thermal stability of nuclear histone acetyltransferase

Biochimie, 1990-05, Vol.72 (5), p.323-326

1990

Volltextzugriff (PDF)

Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis

Clinical Molecular Pathology, 1995-10, Vol.48 (5), p.M285-M288

1995

Volltextzugriff (PDF)

Inhibition of in vitro RNA synthesis by hycanthone, oxamniquine and praziquantel

Experientia, 1990-05, Vol.46 (5), p.461-464

1990

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Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

Biochemical characterization of pectate lyases produced by fluorescent pseudomonads associated with spoilage of fresh fruits and vegetables

Somatic instability of the DNA sequences encoding the polymorphic polyglutamine tract of the AIB1 gene

Patterns of Genetic Variation in the Hypertension Candidate Gene GRK4: Ethnic Variation and Haplotype Structure

A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency

Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile?

Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy

Is the Variable Clinical Phenotype Associated with the T8993G Narp (Neuropathy, Ataxia, Retinitis Pigmentosa) Mitochondrial Dna Mutation Solely a Function of Degree of Heteroplasmy?

CAG repeat size and clinical presentation in Huntington's disease

Macular Pattern Retinal Dystrophy, Adult-onset Diabetes, and Deafness: A Family Study of A3243G Mitochondrial Heteroplasmy

Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation

IS THE VARIABLE CLINICAL PHENOTYPE ASSOCIATED WITH THE T8993G NARP (NEUROPATHY, ATAXIA, RETINITIS PIGMENTOSA) MITOCHONDRIAL DNA MUTATION SOLELY A FUNCTION OF DEGREE OF HETEROPLASMY?: 312

Preparation and validation of PCR-generated positive controls for diagnostic dot blotting

312 IS THE VARIABLE CLINICAL PHENOTYPE ASSOCIATED WITH THE T8993G NARP (NEUROPATHY, ATAXIA, RETINITIS PIGMENTOSA) MITOCHONDRIAL DNA MUTATION SOLELY A FUNCTION OF DEGREE OF HETEROPLASMY?

Vomiting, anorexia, and mitochondrial DNA disease

Novel nucleotide substitutions in mitochondrial DNA

Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation

Effects of substrates on the thermal stability of nuclear histone acetyltransferase

Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis

Inhibition of in vitro RNA synthesis by hycanthone, oxamniquine and praziquantel

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