Rötig A - Search Results

1

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.

Amiel J, Gigarel N, Benacki A, Benit P, Valnot I, Parfait B, Von Kleist-Retzow JC, Raclin V, Hadj-Rabia S, Dumez Y, Rustin P, Bonnefont JP, Munnich A, Rötig A. Amiel J, et al. Among authors: rotig a. Prenat Diagn. 2001 Jul;21(7):602-4. doi: 10.1002/pd.126. Prenat Diagn. 2001. PMID: 11494300

2

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.

Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Among authors: rotig a. Biochem Biophys Res Commun. 1992 Jul 15;186(1):16-23. doi: 10.1016/s0006-291x(05)80769-7. Biochem Biophys Res Commun. 1992. PMID: 1321601

3

Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.

Bourgeron T, Chrétien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Among authors: rotig a. Prenat Diagn. 1992 Jun;12(6):548-9. doi: 10.1002/pd.1970120614. Prenat Diagn. 1992. PMID: 1325051 No abstract available.

4

Clinical aspects of mitochondrial disorders.

Munnich A, Rustin P, Rötig A, Chretien D, Bonnefont JP, Nuttin C, Cormier V, Vassault A, Parvy P, Bardet J, et al. Munnich A, et al. Among authors: rotig a. J Inherit Metab Dis. 1992;15(4):448-55. doi: 10.1007/BF01799603. J Inherit Metab Dis. 1992. PMID: 1528005

5

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

Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. Rötig A, et al. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.

6

[Metabolic, enzymological and molecular assessment of mitochondrial cytopathies].

Munnich A, Rotig A. Munnich A, et al. Among authors: rotig a. Pediatrie. 1991;46(6-7):509-14. Pediatrie. 1991. PMID: 1664083 French.

7

Assessment of the mitochondrial respiratory chain.

Rustin P, Chretien D, Bourgeron T, Wucher A, Saudubray JM, Rotig A, Munnich A. Rustin P, et al. Among authors: rotig a. Lancet. 1991 Jul 6;338(8758):60. doi: 10.1016/0140-6736(91)90057-v. Lancet. 1991. PMID: 1676118 No abstract available.

8

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Rötig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA, Munnich A. Rötig A, et al. Genomics. 1991 Jun;10(2):502-4. doi: 10.1016/0888-7543(91)90342-c. Genomics. 1991. PMID: 1712754

9

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

Cormier V, Rotig A, Tardieu M, Colonna M, Saudubray JM, Munnich A. Cormier V, et al. Among authors: rotig a. Am J Hum Genet. 1991 Apr;48(4):643-8. Am J Hum Genet. 1991. PMID: 2014791 Free PMC article.

10

[Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].

Cormier V, Rötig A, Bonnefont JP, Mechinand F, Berthou C, Goulet O, Schmitz J, Blanche S, Vassaut A, Maier M, et al. Cormier V, et al. Among authors: rotig a. Arch Fr Pediatr. 1991 Mar;48(3):171-8. Arch Fr Pediatr. 1991. PMID: 2048956 French.

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