Publications:

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs7942717

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Nutrigenetics, omega-3 and plasma lipids/lipoproteins/apolipoproteins with evidence evaluation using the GRADE approach: a systematic review.

Bmj Open

Keathley, Justine J; Garneau, Véronique V; Marcil, Valérie V; Mutch, David M DM; Robitaille, Julie J; Rudkowska, Iwona I; Sofian, Gabriela Magdalena GM; Desroches, Sophie S; Vohl, Marie-Claude MC

Publication Date: 2022-02-22

Variant appearance in text: rs7942717

PubMed Link: 35193914

Variant Present in the following documents:

• bmjopen-2021-054417.draft_revisions.pdf
• bmjopen-2021-054417supp001.pdf

View BVdb publication page

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Effect of n-3 polyunsaturated fatty acids on ischemic heart disease and cardiometabolic risk factors: a two-sample Mendelian randomization study.

Bmc Cardiovascular Disorders

Xu, Bayi B; Xu, Zhixia Z; Xu, Duanmin D; Tan, Xuerui X

Publication Date: 2021-11-08

Variant appearance in text: rs7942717

PubMed Link: 34749668

Variant Present in the following documents:

• Main text
• 12872_2021_Article_2342.pdf

View BVdb publication page

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Genome-Wide Association Study for Serum Omega-3 and Omega-6 Polyunsaturated Fatty Acids: Exploratory Analysis of the Sex-Specific Effects and Dietary Modulation in Mediterranean Subjects with Metabolic Syndrome.

Nutrients

Coltell, Oscar O; Sorlí, Jose V JV; Asensio, Eva M EM; Barragán, Rocío R; González, José I JI; Giménez-Alba, Ignacio M IM; Zanón-Moreno, Vicente V; Estruch, Ramon R; Ramírez-Sabio, Judith B JB; Pascual, Eva C EC; Ortega-Azorín, Carolina C; Ordovas, Jose M JM; Corella, Dolores D

Publication Date: 2020-01-24

Variant appearance in text: rs7942717

PubMed Link: 31991592

Variant Present in the following documents:

• Main text
• nutrients-12-00310-s001.pdf
• nutrients-12-00310.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: FADS3: 324+225C>T; rs7942717

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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FADS Polymorphism, Omega-3 Fatty Acids and Diabetes Risk: A Systematic Review.

Nutrients

Brayner, Bárbara B; Kaur, Gunveen G; Keske, Michelle A MA; Livingstone, Katherine M KM

Publication Date: 2018-06-13

Variant appearance in text: rs7942717

PubMed Link: 29899246

Variant Present in the following documents:

• Main text
• nutrients-10-00758.pdf

View BVdb publication page

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Effects of FADS and ELOVL polymorphisms on indexes of desaturase and elongase activities: results from a pre-post fish oil supplementation.

Genes & Nutrition

Cormier, Hubert H; Rudkowska, Iwona I; Lemieux, Simone S; Couture, Patrick P; Julien, Pierre P; Vohl, Marie-Claude MC

Publication Date: 2014-11

Variant appearance in text: rs7942717

PubMed Link: 25367143

Variant Present in the following documents:

• Main text
• 12263_2014_Article_437.pdf

View BVdb publication page

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Polymorphisms in Fatty Acid Desaturase (FADS) Gene Cluster: Effects on Glycemic Controls Following an Omega-3 Polyunsaturated Fatty Acids (PUFA) Supplementation.

Genes

Cormier, Hubert H; Rudkowska, Iwona I; Thifault, Elisabeth E; Lemieux, Simone S; Couture, Patrick P; Vohl, Marie-Claude MC

Publication Date: 2013-09-10

Variant appearance in text: rs7942717

PubMed Link: 24705214

Variant Present in the following documents:

• Main text
• genes-04-00485.pdf

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Association between polymorphisms in the fatty acid desaturase gene cluster and the plasma triacylglycerol response to an n-3 PUFA supplementation.

Nutrients

Cormier, Hubert H; Rudkowska, Iwona I; Paradis, Ann-Marie AM; Thifault, Elisabeth E; Garneau, Véronique V; Lemieux, Simone S; Couture, Patrick P; Vohl, Marie-Claude MC

Publication Date: 2012-08

Variant appearance in text: rs7942717

PubMed Link: 23016130

Variant Present in the following documents:

• Main text
• nutrients-04-01026.pdf

View BVdb publication page

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