Literature DB >> 8517674

Noninvasive diagnosis of the MELAS syndrome from blood DNA.

J Poulton, K Morten.   

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Year:  1993        PMID： 8517674     DOI： 10.1002/ana.410340124

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  15 in total

1.  Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

Authors:  S L White; V R Collins; R Wolfe; M A Cleary; S Shanske; S DiMauro; H H Dahl; D R Thorburn
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Authors:  S L White; S Shanske; J J McGill; H Mountain; M T Geraghty; S DiMauro; H H Dahl; D R Thorburn
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

3.  Relaxed replication of mtDNA: A model with implications for the expression of disease.

Authors:  P F Chinnery; D C Samuels
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

4.  Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA.

Authors:  P M Matthews; R M Brown; K Morten; D Marchington; J Poulton; G Brown
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

Review 5.  Mitochondrial genetics '98 is the bottleneck cracked?

Authors:  J Poulton; V Macaulay; D R Marchington
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

6.  Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck.

Authors:  D R Marchington; G M Hartshorne; D Barlow; J Poulton
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

Review 7.  Maternally inherited diabetes and deafness: a new diabetes subtype.

Authors:  J A Maassen; T Kadowaki
Journal:  Diabetologia       Date:  1996-04       Impact factor: 10.122

8.  Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.

Authors:  R B Blok; D A Gook; D R Thorburn; H H Dahl
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

Review 9.  Investigation of mitochondrial disease.

Authors:  J Poulton; G K Brown
Journal:  Arch Dis Child       Date:  1995-08       Impact factor: 3.791

10.  Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing.

Authors:  S S Ghosh; E Fahy; I Bodis-Wollner; J Sherman; N Howell
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025
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