Vanasse M - Search Results

1

Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus.

Zietkiewicz E, Sinnett D, Richer C, Mitchell G, Vanasse M, Labuda D. Zietkiewicz E, et al. Among authors: vanasse m. Hum Genet. 1992 Jun;89(4):453-6. doi: 10.1007/BF00194322. Hum Genet. 1992. PMID: 1618495

2

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec.

Simard LR, Gingras F, Delvoye N, Vanasse M, Melançon SB, Labuda D. Simard LR, et al. Among authors: vanasse m. Hum Genet. 1992 Jun;89(4):419-24. doi: 10.1007/BF00194314. Hum Genet. 1992. PMID: 1618490

3

Alu-PCR combined with non-Alu primers reveals multiple polymorphic loci.

Tang JQ, Korab-Laskowska M, Jarnik M, Cardinal G, Vanasse M, Melançon SB, Labuda D. Tang JQ, et al. Among authors: vanasse m. Mamm Genome. 1995 May;6(5):345-9. doi: 10.1007/BF00364798. Mamm Genome. 1995. PMID: 7626885

4

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism.

Zietkiewicz E, Simard LR, Melançon SB, Vanasse M, Labuda D. Zietkiewicz E, et al. Among authors: vanasse m. Lancet. 1992 Jan 11;339(8785):134. doi: 10.1016/0140-6736(92)91053-b. Lancet. 1992. PMID: 1345868 No abstract available.

5

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O; S2D Group; Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: vanasse m. Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3. Am J Hum Genet. 2011. PMID: 21376300 Free PMC article.

6

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families.

Simard LR, Vanasse M, Rochette C, Morgan K, Lemieux B, Melançon SB, Labuda D. Simard LR, et al. Among authors: vanasse m. Genomics. 1992 Sep;14(1):188-90. doi: 10.1016/s0888-7543(05)80305-2. Genomics. 1992. PMID: 1427826

7

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.

Debray FG, Lambert M, Lortie A, Vanasse M, Mitchell GA. Debray FG, et al. Among authors: vanasse m. Am J Med Genet A. 2007 Sep 1;143A(17):2046-51. doi: 10.1002/ajmg.a.31880. Am J Med Genet A. 2007. PMID: 17663470 Review.

8

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

Meijer IA, Sasarman F, Maftei C, Rossignol E, Vanasse M, Major P, Mitchell GA, Brunel-Guitton C. Meijer IA, et al. Among authors: vanasse m. Mol Genet Metab Rep. 2015 Nov 8;5:85-88. doi: 10.1016/j.ymgmr.2015.10.010. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649549 Free PMC article.

9

Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients.

Lemay JF, Lambert MA, Mitchell GA, Vanasse M, Valle D, Arbour JF, Dubé J, Flessas J, Laberge M, Lafleur L, et al. Lemay JF, et al. Among authors: vanasse m. J Pediatr. 1992 Nov;121(5 Pt 1):725-30. doi: 10.1016/s0022-3476(05)81900-6. J Pediatr. 1992. PMID: 1432421 Free article.

10

Neurologic crises in hereditary tyrosinemia.

Mitchell G, Larochelle J, Lambert M, Michaud J, Grenier A, Ogier H, Gauthier M, Lacroix J, Vanasse M, Larbrisseau A, et al. Mitchell G, et al. Among authors: vanasse m. N Engl J Med. 1990 Feb 15;322(7):432-7. doi: 10.1056/NEJM199002153220704. N Engl J Med. 1990. PMID: 2153931 Free article.

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