Literature DB >> 2564980

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.

A Rotig, M Colonna, J P Bonnefont, S Blanche, A Fischer, J M Saudubray, A Munnich.   

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Year:  1989        PMID： 2564980     DOI： 10.1016/s0140-6736(89)92897-3

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


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  61 in total

1.  Transmitochondrial mice: proof of principle and promises.

Authors:  M Hirano
Journal:  Proc Natl Acad Sci U S A       Date:  2001-01-16       Impact factor: 11.205

2.  Ultrastructural changes associated with reduced mitochondrial DNA and impaired mitochondrial function in the presence of 2'3'-dideoxycytidine.

Authors:  L D Lewis; F M Hamzeh; P S Lietman
Journal:  Antimicrob Agents Chemother       Date:  1992-09       Impact factor: 5.191

3.  Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.

Authors:  D D de Vries; W Ruitenbeek; B A van Oost
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

4.  Mitochondrial genetics: principles and practice.

Authors:  J M Shoffner; D C Wallace
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

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

Authors:  A Rötig; V Cormier; S Blanche; J P Bonnefont; F Ledeist; N Romero; J Schmitz; P Rustin; A Fischer; J M Saudubray
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

6.  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

7.  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

8.  Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases.

Authors:  L Bet; M Moggio; G P Comi; C Mariani; A Prelle; N Checcarelli; A Bordoni; N Bresolin; E Scarpini; G Scarlato
Journal:  J Neurol       Date:  1994-07       Impact factor: 4.849

9.  Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.

Authors:  A Superti-Furga; E Schoenle; P Tuchschmid; R Caduff; V Sabato; D DeMattia; R Gitzelmann; B Steinmann
Journal:  Eur J Pediatr       Date:  1993-01       Impact factor: 3.183

Review 10.  Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

Authors:  Alejandro A Schäffer; Christoph Klein
Journal:  Curr Opin Allergy Clin Immunol       Date:  2007-12
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