Literature DB >> 2900946

Deletion of blood mitochondrial DNA in pancytopenia.

A Rötig, M Colonna, S Blanche, A Fischer, F Le Deist, J Frezal, J M Saudubray, A Munnich.   

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Year:  1988        PMID： 2900946     DOI： 10.1016/s0140-6736(88)92687-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  14 in total

1.  Duplications of mitochondrial DNA: implications for pathogenesis.

Authors:  J Poulton
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

Authors:  V Cormier; A Rotig; M Tardieu; M Colonna; J M Saudubray; A Munnich
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

3.  Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.

Authors:  G F Hoffmann; D H Hunneman; C Jakobs; E Wilichowski; S W Eber; F Hanefeld; D Rating; H Reichmann
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 4.  Mitochondrial DNA in sickness and in health.

Authors:  L I Grossman
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

5.  Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution.

Authors:  J Poulton; M E Deadman; R M Gardiner
Journal:  Nucleic Acids Res       Date:  1989-12-25       Impact factor: 16.971

6.  Age-related human mtDNA deletions: a heterogeneous set of deletions arising at a single pair of directly repeated sequences.

Authors:  A Baumer; C Zhang; A W Linnane; P Nagley
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

7.  Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies.

Authors:  F Degoul; I Nelson; S Amselem; N Romero; B Obermaier-Kusser; G Ponsot; C Marsac; P Lestienne
Journal:  Nucleic Acids Res       Date:  1991-02-11       Impact factor: 16.971

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

Authors:  J M Shoffner; M T Lott; A S Voljavec; S A Soueidan; D A Costigan; D C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

9.  Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions.

Authors:  M H Tulinius; A Oldfors; E Holme; N G Larsson; M Houshmand; P Fahleson; L Sigström; B Kristiansson
Journal:  Eur J Pediatr       Date:  1995-01       Impact factor: 3.183

10.  Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder.

Authors:  S Nørby; P Lestienne; I Nelson; I M Nielsen; H Schmalbruch; O Sjö; M Warburg
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318
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