(Q47199760)

11 January 2018

title

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. (English)

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11 January 2018

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L J A M Jacobs

1

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11 January 2018

R J E Jongbloed

2

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11 January 2018

F A Wijburg

3

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11 January 2018

J B C de Klerk

4

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11 January 2018

J P M Geraedts

5

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11 January 2018

J G Nijland

6

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11 January 2018

H R Scholte

7

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11 January 2018

I F M de Coo

8

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11 January 2018

H J M Smeets

9

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11 January 2018

publication date

1 January 2004

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11 January 2018

Journal of Inherited Metabolic Disease

published in

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11 January 2018

volume

27

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11 January 2018

issue

1

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11 January 2018

page(s)

47-55

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11 January 2018

Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion

cites work

1 reference

12 December 2020

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

1 reference

12 December 2020

Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression

1 reference

12 December 2020

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

1 reference

12 December 2020

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome

1 reference

12 December 2020

Direct sequencing of deleted mitochondrial DNA in myopathic patients

1 reference

12 December 2020

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Clinical implications of duplicated mtDNA in Pearson syndrome

1 reference

12 December 2020

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

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12 December 2020

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

12 December 2020

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

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12 December 2020

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

1 reference

12 December 2020

Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus

1 reference

12 December 2020

Mitochondrial diabetes revisited

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12 December 2020

Multiple rearrangements of mitochondrial DNA in unfertilized human oocytes.

1 reference

12 December 2020

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

12 December 2020

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

1 reference

12 December 2020

Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?

1 reference

12 December 2020

Mitochondrial DNA: does more lead to less?

1 reference

12 December 2020

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000016601.49372.18

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/B:BOLI.0000016601.49372.18

1 reference

11 January 2018

Dimensions Publication ID

1042337807

0 references

1 reference

11 January 2018