(Q50510716)

English

Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome.

scientific article published in February 1997

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

1 reference

Europe PubMed Central

Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

mitochondrial DNA

0 references

hypoparathyroidism

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Wilichowski E

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Grüters A

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Kruse K

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Rating D

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Beetz R

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Korenke GC

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Ernst BP

7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Christen HJ

8

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Hanefeld F

9

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

language of work or name

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publication date

1 February 1997

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Pediatric Research

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

41

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

193-200

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Endocrine dysfunction in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Kearns-Sayre syndrome with hypoparathyroidism

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Retinal pathology in the Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Kearns-Sayre syndrome, hypoparathyroidism, and basal ganglia calcification

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Progressive ataxia, retinal degeneration, neuromyopathy, and mental subnormality in a patient with true hypoparathyroidism, dwarfism, malabsorption, and cholelithiasis

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Occurrence of Complex Mitochondrial DNA in Normal Tissues

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Kearns-sayre syndrome. Two clinico-pathological cases.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Circular Dimer and Catenate Forms of Mitochondrial DNA in Human Leukaemic Leucocytes

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199702000-00007

21 January 2018

Identifiers

10.1203/00006450-199702000-00007

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9029638

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