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87 enregistrements « 1 de 9 »

Poulin MA, Laframboise R, Blouin MJ

Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report.

Article de revue

Int J Pediatr Otorhinolaryngol, 122 , p. 138-140, 2019, ISSN: 0165-5876.

Résumé | Liens:

Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomaki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Bialkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collee JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadalo L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gomez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lazaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubinski J, Lukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D, KConFab Investigators, HEBON Investigators, GEMO Study Collaborators, EMBRACE Collaborators, Antoniou AC, Goldgar DE, Olopade OI, Chenevix-Trench G, Rebbeck TR, Huo D, CIMBA

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.

Article de revue

Br J Cancer, 121 (2), p. 180-192, 2019, ISSN: 0007-0920.

Résumé | Liens:

Levtova A, Waters PJ, Buhas D, Levesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Article de revue

J Inherit Metab Dis, 42 (1), p. 107-116, 2019, ISSN: 0141-8955.

Résumé | Liens:

Larouche V, Atkinson J, Albrecht S, Laframboise R, Jabado N, Tabori U, Bouffet E, international bMMRD consortium

Sustained complete response of recurrent glioblastoma to combined checkpoint inhibition in a young patient with constitutional mismatch repair deficiency.

Article de revue

Pediatr Blood Cancer, 65 (12), p. e27389, 2018, ISSN: 1545-5009.

| Liens:

Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.

Article de revue

J Hum Genet, 63 (3), p. 349-356, 2018, ISSN: 1434-5161.

Résumé | Liens:

Yang H, Rossignol F, Cyr D, Laframboise R, Wang SP, Soucy JF, Berthier MT, Giguere Y, Waters PJ, Mitchell GA, Quebec NTBC Study Group

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.

Article de revue

Mol Genet Metab Rep, 14 , p. 55-58, 2018, ISSN: 2214-4269.

Résumé | Liens:

Trudel M, Laframboise R, Leclerc JE

Musculo-mucous web velum and velopharyngeal dysfunction associated with 8q22.1-22.2 microduplication.

Article de revue

Int J Pediatr Otorhinolaryngol, 104 , p. 134-137, 2018, ISSN: 0165-5876.

Résumé | Liens:

Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguere Y, Waters PJ, Mitchell GA, Quebec NTBC Study Group

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

Article de revue

J Med Genet, 54 (4), p. 241-247, 2017, ISSN: 0022-2593.

Résumé | Liens:

Quebec NTBC Study Group, Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussieres JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbe P, Laframboise R, Maranda B, Melancon S, Merouani A, Mitchell GA, Mitchell J, Parizeault G, Pelletier L, Phan V, Turcotte JF

The Québec NTBC Study.

Article de revue

Adv Exp Med Biol, 959 , p. 187-195, 2017, ISSN: 0065-2598.

Résumé | Liens:

Bouffet E, Larouche V, Campbell BB, Merico D, de Borja R, Aronson M, Durno C, Krueger J, Cabric V, Ramaswamy V, Zhukova N, Mason G, Farah R, Afzal S, Yalon M, Rechavi G, Magimairajan V, Walsh MF, Constantini S, Dvir R, Elhasid R, Reddy A, Osborn M, Sullivan M, Hansford J, Dodgshun A, Klauber-Demore N, Peterson L, Patel S, Lindhorst S, Atkinson J, Cohen Z, Laframboise R, Dirks P, Taylor M, Malkin D, Albrecht S, Dudley RW, Jabado N, Hawkins CE, Shlien A, Tabori U

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

Article de revue

J Clin Oncol, 34 (19), p. 2206-11, 2016, ISSN: 0732-183X.

Résumé | Liens:

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  • Centre de recherche du CHU de Québec - Université Laval, Subvention, Centre hospitalier universitaire de Québec - Université Laval, Centres de recherche affiliés, du 2017-01-01 au 2099-12-31
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