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Publications scientifiques

  • article Poulin MA, Laframboise R, Blouin MJ

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

    Int J Pediatr Otorhinolaryngol 122 2019.

    DOI PUBMED
  • article 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

    J Inherit Metab Dis 42 (1), 2019.

    DOI PUBMED
  • article 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

    J Hum Genet 63 (3), 2018.

    DOI PUBMED
  • article Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Decarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C and and Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL

    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

    Am J Hum Genet 97 (5), 2015.

    DOI PUBMED
  • article Chenier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ

    CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

    J Neurodev Disord 6 (1), 2014.

    DOI PUBMED
  • article Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Desilets V and and Maranda B, Rouleau GA, Majewski J, Michaud JL

    Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

    Am J Hum Genet 90 (4), 2012.

    DOI PUBMED
  • article Feldhammer M, Durand S, Mrazova L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebicek M, Kmoch S, Pshezhetsky AV

    Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene

    Hum Mutat 30 (6), 2009.

    DOI PUBMED
  • article Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, Mackay N, Robinson BH, Mitchell GA

    Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia

    Neuropediatrics 39 (1), 2008.

    DOI PUBMED
  • article Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E

    Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome

    Hum Mutat 29 (11), 2008.

    DOI PUBMED
  • article Bilodeau A, Prasil P, Cloutier R, Laframboise R, Meguerditchian AN, Roy G, Leclerc S, Péloquin J

    Hereditary multiple intestinal atresia: thirty years later

    J Pediatr Surg 39 (5), 2004.

    DOI PUBMED
  • article Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I

    Genetic analysis of patients with the Saethre-Chotzen phenotype

    Am J Med Genet 110 (2), 2002.

    DOI PUBMED
  • article Sniderman LC, Lambert M, Giguère R, Auray-Blais C, Lemieux B, Laframboise R, Rosenblatt DS, Treacy EP

    Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

    J Pediatr 134 (6), 1999.

    DOI PUBMED