Drouin R - Search Results

1

Jarry J, Brunet JS, Laframboise R, Drouin R, Latreille J, Richard C, Gekas J, Maranda B, Monczak Y, Wong N, Pouchet C, Zaor S, Kasprzak L, Palma L, Wu MK, Tischkowitz M, Foulkes WD, Chong G. Jarry J, et al. Among authors: drouin r. Fam Cancer. 2011 Dec;10(4):659-65. doi: 10.1007/s10689-011-9468-4. Fam Cancer. 2011. PMID: 21779980

2

High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

Chong G, Jarry J, Marcus V, Thiffault I, Winocour S, Monczak Y, Drouin R, Latreille J, Australie K, Bapat B, Gordon PH, Giguère Y, Gologan A, Galiatsatos P, Jass JR, Wong N, Zaor S, Palma L, Kasprzak L, Tischkowitz M, Foulkes WD. Chong G, et al. Among authors: drouin r. Hum Mutat. 2009 Aug;30(8):E797-812. doi: 10.1002/humu.21056. Hum Mutat. 2009. PMID: 19459153

3

Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.

Ayub S, Gadji M, Krabchi K, Côté S, Gekas J, Maranda B, Drouin R. Ayub S, et al. Among authors: drouin r. Am J Med Genet A. 2016 Apr;170A(4):896-907. doi: 10.1002/ajmg.a.37428. Epub 2016 Jan 29. Am J Med Genet A. 2016. PMID: 26822682 Review.

4

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

Debray FG, Lambert M, Lemieux B, Soucy JF, Drouin R, Fenyves D, Dubé J, Maranda B, Laframboise R, Mitchell GA. Debray FG, et al. Among authors: drouin r. J Med Genet. 2008 Nov;45(11):759-64. doi: 10.1136/jmg.2008.059097. J Med Genet. 2008. PMID: 18978333 Free article.

5

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Auray-Blais C, Cyr D, Ntwari A, West ML, Cox-Brinkman J, Bichet DG, Germain DP, Laframboise R, Melançon SB, Stockley T, Clarke JT, Drouin R. Auray-Blais C, et al. Among authors: drouin r. Mol Genet Metab. 2008 Mar;93(3):331-40. doi: 10.1016/j.ymgme.2007.10.001. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18023222

6

Recurrent cleft lip and palate in siblings of a patient with malabsorption syndrome, probably caused by hypovitaminosis a associated with folic acid and vitamin B(2) deficiencies.

Faron G, Drouin R, Pedneault L, Poulin LD, Laframboise R, Garrido-Russo M, Fraser WD. Faron G, et al. Among authors: drouin r. Teratology. 2001 Mar;63(3):161-3. doi: 10.1002/tera.1027. Teratology. 2001. PMID: 11283973

7

Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules.

Auray-Blais C, Cyr D, Drouin R. Auray-Blais C, et al. Among authors: drouin r. J Inherit Metab Dis. 2007 Aug;30(4):515-21. doi: 10.1007/s10545-007-0607-x. Epub 2007 Jun 14. J Inherit Metab Dis. 2007. PMID: 17570073

8

Prenatal diagnosis and molecular characterization of two constitutional rings derived from one chromosome 22.

Gadji M, Krabchi K, Langis P, Aboura A, Périgny M, Côté S, Ferland M, Drouin R. Gadji M, et al. Among authors: drouin r. Am J Med Genet A. 2011 Feb;155A(2):430-3. doi: 10.1002/ajmg.a.33654. Am J Med Genet A. 2011. PMID: 21271667 No abstract available.

9

New rapid multicolor PRINS protocol.

Yan J, Gadji M, Krabchi K, Drouin R. Yan J, et al. Among authors: drouin r. Methods Mol Biol. 2006;334:3-13. doi: 10.1385/1-59745-068-5:3. Methods Mol Biol. 2006. PMID: 16861747

10

Application of multi-PRINS to simultaneously identify chromosomes 18, X, and Y in prenatal diagnosis.

Gadji M, Krabchi K, Yan J, Drouin R. Gadji M, et al. Among authors: drouin r. Methods Mol Biol. 2008;444:49-58. doi: 10.1007/978-1-59745-066-9_4. Methods Mol Biol. 2008. PMID: 18425471

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

173 results

Search Page