Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

Li, Chunmei; Beauregard-Lacroix, Eliane; Kondratev, Christine; Rousseau, Justine; Heo, Ah Jung; Neas, Katherine; Graham, Brett H; Rosenfeld, Jill A; Bacino, Carlos A; Wagner, Matias; Wenzel, Maren; Al Mutairi, Fuad; Al Deiab, Hamad; Gleeson, Joseph G; Stanley, Valentina; Zaki, Maha S; Kwon, Yong Tae; Leroux, Michel R; Campeau, Philippe M.

Am J Hum Genet ; 108(1): 134-147, 2021 01 07.

Artigo em Inglês | MEDLINE | ID: mdl-33340455

2.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie M H F; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C.

Am J Hum Genet ; 104(3): 530-541, 2019 03 07.

Artigo em Inglês | MEDLINE | ID: mdl-30827496

3.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Beauregard-Lacroix, Eliane; Pacheco-Cuellar, Guillermo; Ajeawung, Norbert F; Tardif, Jessica; Dieterich, Klaus; Dabir, Tabib; Vind-Kezunovic, Dina; White, Susan M; Zadori, Denes; Castiglioni, Claudia; Tranebjærg, Lisbeth; Tørring, Pernille Mathiesen; Blair, Ed; Wisniewska, Marzena; Camurri, Maria Vittoria; van Bever, Yolande; Molidperee, Sirinart; Taylor, Juliet; Dionne-Laporte, Alexandre; Sisodiya, Sanjay M; Hennekam, Raoul C M; Campeau, Philippe M.

Genet Med ; 23(1): 149-154, 2021 01.

Artigo em Inglês | MEDLINE | ID: mdl-32873933

4.

Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.

Lemire, Gabrielle T; Beauregard-Lacroix, Éliane; Campeau, Philippe M; Parent, Stefan; Roy-Beaudry, Marjolaine; Soglio, Dorothée Dal; Grignon, Andrée; Rypens, Françoise; Wavrant, Sandrine; Laberge, Anne-Marie; Delrue, Marie-Ange.

Am J Med Genet A ; 182(4): 664-672, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-31880412

5.

Response to Gao et al.

Beauregard-Lacroix, Eliane; Campeau, Philippe M.

Genet Med ; 23(8): 1580-1581, 2021 08.

Artigo em Inglês | MEDLINE | ID: mdl-33941884

6.

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Beauregard-Lacroix, Eliane; Pacheco-Cuellar, Guillermo; Ajeawung, Norbert F; Tardif, Jessica; Dieterich, Klaus; Dabir, Tabib; Vind-Kezunovic, Dina; White, Susan M; Zadori, Denes; Castiglioni, Claudia; Tranebjærg, Lisbeth; Tørring, Pernille Mathiesen; Blair, Ed; Wisniewska, Marzena; Camurri, Maria Vittoria; van Bever, Yolande; Molidperee, Sirinart; Taylor, Juliet; Dionne-Laporte, Alexandre; Sisodiya, Sanjay M; Hennekam, Raoul C M; Campeau, Philippe M.

Genet Med ; 23(1): 237, 2021 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-32934366

7.

Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.

Kelkel, Marcel A; Boutin, Michel; Curado, Filipa; Bauer, Peter; Beauregard-Lacroix, Éliane; Mercier, François E; Maranda, Bruno; Menkovic, Iskren; Martineau, Tristan; Auray-Blais, Christiane.

Bioanalysis ; 14(5): 289-306, 2022 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-35118880

8.

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.

Beauregard-Lacroix, Eliane; Salian, Smrithi; Kim, Hyunyun; Ehresmann, Sophie; DÊ¹Amours, Guylaine; Gauthier, Julie; Saillour, Virginie; Bernard, Geneviève; Mitchell, Grant A; Soucy, Jean-François; Michaud, Jacques L; Campeau, Philippe M.

Eur J Hum Genet ; 28(4): 461-468, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-31695177

9.

Genetic Testing in a Cohort of Complex Esophageal Atresia.

Beauregard-Lacroix, Eliane; Tardif, Jessica; Lemyre, Emmanuelle; Kibar, Zoha; Faure, Christophe; Campeau, Philippe M.

Mol Syndromol ; 8(5): 236-243, 2017 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-28878607

10.

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses.

Beauregard-Lacroix, Eliane; Tardif, Jessica; Camurri, Maria Vittoria; Lemyre, Emmanuelle; Barchi, Soraya; Parent, Stefan; Campeau, Philippe M.

Spine (Phila Pa 1976) ; 42(14): E841-E847, 2017 Jul 15.

Artigo em Inglês | MEDLINE | ID: mdl-27879578

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