Cano A - Search Results

1

A new mutation in the mitochondrial tRNA^Pro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

Morel G, Bannwarth S, Chaussenot A, Cano A, Fragaki K, Ait-El-Mkadem S, Rouzier C, De Paula AM, Chabrol B, Paquis-Flucklinger V. Morel G, et al. Among authors: cano a. Neuromuscul Disord. 2016 Dec;26(12):885-889. doi: 10.1016/j.nmd.2016.09.012. Epub 2016 Sep 16. Neuromuscul Disord. 2016. PMID: 27816331

2

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V; French Group of WS. Giuliano F, et al. Among authors: cano a. Hum Mutat. 2005 Jan;25(1):99-100. doi: 10.1002/humu.9300. Hum Mutat. 2005. PMID: 15605410

3

[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].

Monnot S, Chabrol B, Cano A, Pellissier JF, Collignon P, Montfort MF, Paquis-Flucklinger V. Monnot S, et al. Among authors: cano a. Arch Pediatr. 2005 May;12(5):568-71. doi: 10.1016/j.arcped.2005.01.019. Arch Pediatr. 2005. PMID: 15885549 French.

4

[Metabolic diseases. Inherited metabolic diseases: importance of diagnosis].

Chabrol B, Cano A. Chabrol B, et al. Among authors: cano a. Ann Biol Clin (Paris). 2006 Nov-Dec;64(6):581-2. Ann Biol Clin (Paris). 2006. PMID: 17256234 Free article. French. No abstract available.

5

Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes.

Cano A, Molines L, Valéro R, Simonin G, Paquis-Flucklinger V, Vialettes B; French Group of Wolfram Syndrome. Cano A, et al. Diabetes Care. 2007 Sep;30(9):2327-30. doi: 10.2337/dc07-0380. Epub 2007 May 29. Diabetes Care. 2007. PMID: 17536072

6

[Fabry disease in childhood].

Chabrol B, Mansour H, Cano A. Chabrol B, et al. Among authors: cano a. Presse Med. 2007 Mar;36 Spec No 1:1S32-5. Presse Med. 2007. PMID: 17546765 Review. French.

7

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome; Vialettes B. Cano A, et al. Am J Med Genet A. 2007 Jul 15;143A(14):1605-12. doi: 10.1002/ajmg.a.31809. Am J Med Genet A. 2007. PMID: 17568405

8

Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.

Cano A, Ovaert C, Vianey-Saban C, Chabrol B. Cano A, et al. Pediatr Cardiol. 2008 Jan;29(1):163-5. doi: 10.1007/s00246-007-9051-9. Epub 2007 Oct 10. Pediatr Cardiol. 2008. PMID: 17926086

9

Aortic dilatation in Cockayne syndrome.

Ovaert C, Cano A, Chabrol B. Ovaert C, et al. Among authors: cano a. Am J Med Genet A. 2007 Nov 1;143A(21):2604-6. doi: 10.1002/ajmg.a.31986. Am J Med Genet A. 2007. PMID: 17935247

10

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW. Chabrol B, et al. Among authors: cano a. J Med Genet. 2008 May;45(5):314-8. doi: 10.1136/jmg.2007.055475. Epub 2008 Jan 30. J Med Genet. 2008. PMID: 18234729

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