Bourque DK - Search Results

1

Characterization of the vaginal microbiota of healthy Canadian women through the menstrual cycle.

Chaban B, Links MG, Jayaprakash TP, Wagner EC, Bourque DK, Lohn Z, Albert AY, van Schalkwyk J, Reid G, Hemmingsen SM, Hill JE, Money DM. Chaban B, et al. Among authors: bourque dk. Microbiome. 2014 Jul 4;2:23. doi: 10.1186/2049-2618-2-23. eCollection 2014. Microbiome. 2014. PMID: 25053998 Free PMC article.

2

Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia.

Bourque DK, Avila L, Peñaherrera M, von Dadelszen P, Robinson WP. Bourque DK, et al. Placenta. 2010 Mar;31(3):197-202. doi: 10.1016/j.placenta.2009.12.003. Epub 2010 Jan 8. Placenta. 2010. PMID: 20060582

3

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders.

Bourque DK, Peñaherrera MS, Yuen RK, Van Allen MI, McFadden DE, Robinson WP. Bourque DK, et al. Clin Genet. 2011 Feb;79(2):169-75. doi: 10.1111/j.1399-0004.2010.01443.x. Clin Genet. 2011. PMID: 20507345

4

Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.

Bourque DK, Cloutier M, Kernohan KD, Bareke E, Grynspan D, Michaud J; Care4Rare Canada Consortium; Boycott KM. Bourque DK, et al. Am J Med Genet A. 2019 May;179(5):813-816. doi: 10.1002/ajmg.a.61076. Epub 2019 Mar 5. Am J Med Genet A. 2019. PMID: 30838783

5

Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.

Aref-Eshghi E, Bourque DK, Kerkhof J, Carere DA, Ainsworth P, Sadikovic B, Armour CM, Lin H. Aref-Eshghi E, et al. Among authors: bourque dk. Hum Mutat. 2019 Oct;40(10):1684-1689. doi: 10.1002/humu.23833. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31268616

6

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.

Bourque DK, Hartley T, Nikkel SM, Pohl D, Tétreault M, Kernohan KD; Care4Rare Canada Consortium; Dyment DA. Bourque DK, et al. Eur J Med Genet. 2018 Feb;61(2):89-93. doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Oct 21. Eur J Med Genet. 2018. PMID: 29066376 Review.

7

Periodic breathing in patients with NALCN mutations.

Bourque DK, Dyment DA, MacLusky I, Kernohan KD; Care4Rare Canada Consortium; McMillan HJ. Bourque DK, et al. J Hum Genet. 2018 Oct;63(10):1093-1096. doi: 10.1038/s10038-018-0484-1. Epub 2018 Jul 3. J Hum Genet. 2018. PMID: 29968795

8

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Bourque DK, Fonseca IC, Staines A, Teitelbaum R, Axford MM, Jobling R, Chiasson D, Chitayat D. Bourque DK, et al. Am J Med Genet A. 2019 Jul;179(7):1325-1329. doi: 10.1002/ajmg.a.61162. Epub 2019 May 9. Am J Med Genet A. 2019. PMID: 31074124

9

Gastroschisis in Ontario, Canada: 2012-2018.

Bourque DK, Meng L, Dougan S, Momoli F, Riddell C, Walker M, Armour CM. Bourque DK, et al. Birth Defects Res. 2021 Aug 15;113(14):1044-1051. doi: 10.1002/bdr2.1896. Epub 2021 Apr 19. Birth Defects Res. 2021. PMID: 33871183

10

Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.

Bourque DK, Cordeiro D, Nimmo GAM, Kobayashi J, Mercimek-Andrews S. Bourque DK, et al. Can J Neurol Sci. 2021 Nov;48(6):826-830. doi: 10.1017/cjn.2021.3. Epub 2021 Jan 12. Can J Neurol Sci. 2021. PMID: 33431108

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

16 results

Search Page

Filters