Pesquisa | Portal de Pesquisa da BVS

1.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Donkervoort, S; Sabouny, R; Yun, P; Gauquelin, L; Chao, K R; Hu, Y; Al Khatib, I; Töpf, A; Mohassel, P; Cummings, B B; Kaur, R; Saade, D; Moore, S A; Waddell, L B; Farrar, M A; Goodrich, J K; Uapinyoying, P; Chan, S H S; Javed, A; Leach, M E; Karachunski, P; Dalton, J; Medne, L; Harper, A; Thompson, C; Thiffault, I; Specht, S; Lamont, R E; Saunders, C; Racher, H; Bernier, F P; Mowat, D; Witting, N; Vissing, J; Hanson, R; Coffman, K A; Hainlen, M; Parboosingh, J S; Carnevale, A; Yoon, G; Schnur, R E; Boycott, K M; Mah, J K; Straub, V; Foley, A Reghan; Innes, A M; Bönnemann, C G; Shutt, T E.

Acta Neuropathol ; 138(6): 1013-1031, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31463572

2.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Hartley, T; Wagner, J D; Warman-Chardon, J; Tétreault, M; Brady, L; Baker, S; Tarnopolsky, M; Bourque, P R; Parboosingh, J S; Smith, C; McInnes, B; Innes, A M; Bernier, F; Curry, C J; Yoon, G; Horvath, G A; Bareke, E; Gillespie, M; Majewski, J; Bulman, D E; Dyment, D A; Boycott, K M.

Clin Genet ; 93(2): 301-309, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-28708278

3.

Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

Smith, C; Parboosingh, J S; Boycott, K M; Bönnemann, C G; Mah, J K; Lamont, R E; Micheil Innes, A; Bernier, F P.

Clin Genet ; 91(3): 426-430, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-27684565

4.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Balci, T B; Hartley, T; Xi, Y; Dyment, D A; Beaulieu, C L; Bernier, F P; Dupuis, L; Horvath, G A; Mendoza-Londono, R; Prasad, C; Richer, J; Yang, X-R; Armour, C M; Bareke, E; Fernandez, B A; McMillan, H J; Lamont, R E; Majewski, J; Parboosingh, J S; Prasad, A N; Rupar, C A; Schwartzentruber, J; Smith, A C; Tétreault, M; Innes, A M; Boycott, K M.

Clin Genet ; 92(3): 281-289, 2017 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-28170084

5.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer, S L; Hartley, T; Dyment, D A; Beaulieu, C L; Schwartzentruber, J; Smith, A; Bedford, H M; Bernard, G; Bernier, F P; Brais, B; Bulman, D E; Warman Chardon, J; Chitayat, D; Deladoëy, J; Fernandez, B A; Frosk, P; Geraghty, M T; Gerull, B; Gibson, W; Gow, R M; Graham, G E; Green, J S; Heon, E; Horvath, G; Innes, A M; Jabado, N; Kim, R H; Koenekoop, R K; Khan, A; Lehmann, O J; Mendoza-Londono, R; Michaud, J L; Nikkel, S M; Penney, L S; Polychronakos, C; Richer, J; Rouleau, G A; Samuels, M E; Siu, V M; Suchowersky, O; Tarnopolsky, M A; Yoon, G; Zahir, F R; Majewski, J; Boycott, K M.

Clin Genet ; 89(3): 275-84, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-26283276

6.

Validation of an obstetric comorbidity index in an external population.

Metcalfe, A; Lix, L M; Johnson, J-A; Currie, G; Lyon, A W; Bernier, F; Tough, S C.

BJOG ; 122(13): 1748-55, 2015 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-25559311

7.

Large-scale vibrating coil magnetometer for the magnetic characterization of bulk superconductors.

Arsenault, A; Charpentier-Pépin, B; Forcier, A; Nassiri, N; Bellemare, J; Lacroix, C; Ménard, D; Sirois, F; Bernier, F; Lamarre, J-M.

Rev Sci Instrum ; 94(8)2023 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-38065181

8.

HostSeq: a Canadian whole genome sequencing and clinical data resource.

Yoo, S; Garg, E; Elliott, L T; Hung, R J; Halevy, A R; Brooks, J D; Bull, S B; Gagnon, F; Greenwood, Cmt; Lawless, J F; Paterson, A D; Sun, L; Zawati, M H; Lerner-Ellis, J; Abraham, Rjs; Birol, I; Bourque, G; Garant, J-M; Gosselin, C; Li, J; Whitney, J; Thiruvahindrapuram, B; Herbrick, J-A; Lorenti, M; Reuter, M S; Adeoye, O O; Liu, S; Allen, U; Bernier, F P; Biggs, C M; Cheung, A M; Cowan, J; Herridge, M; Maslove, D M; Modi, B P; Mooser, V; Morris, S K; Ostrowski, M; Parekh, R S; Pfeffer, G; Suchowersky, O; Taher, J; Upton, J; Warren, R L; Yeung, Rsm; Aziz, N; Turvey, S E; Knoppers, B M; Lathrop, M; Jones, Sjm.

BMC Genom Data ; 24(1): 26, 2023 05 02.

Artigo em Inglês | MEDLINE | ID: mdl-37131148

9.

Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases.

Amsalem, H; Fitzgerald, B; Keating, S; Ryan, G; Keunen, J; Pippi Salle, J L; Berger, H; Aiello, H; Otaño, L; Bernier, F; Chitayat, D.

Ultrasound Obstet Gynecol ; 37(6): 678-83, 2011 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-20981865

10.

Bacterial contamination in platelet concentrates.

Pietersz, R N I; Reesink, H W; Panzer, S; Oknaian, S; Kuperman, S; Gabriel, C; Rapaille, A; Lambermont, M; Deneys, V; Sondag, D; Ramírez-Arcos, S; Goldman, M; Delage, G; Bernier, F; Germain, M; Vuk, T; Georgsen, J; Morel, P; Naegelen, C; Bardiaux, L; Cazenave, J-P; Dreier, J; Vollmer, T; Knabbe, C; Seifried, E; Hourfar, K; Lin, C K; Spreafico, M; Raffaele, L; Berzuini, A; Prati, D; Satake, M; de Korte, D; van der Meer, P F; Kerkhoffs, J L; Blanco, L; Kjeldsen-Kragh, J; Svard-Nilsson, A-M; McDonald, C P; Symonds, I; Moule, R; Brailsford, S; Yomtovian, R; Jacobs, M R.

Vox Sang ; 106(3): 256-83, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-24654780

11.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Davey, K M; Parboosingh, J S; McLeod, D R; Chan, A; Casey, R; Ferreira, P; Snyder, F F; Bridge, P J; Bernier, F P.

J Med Genet ; 43(5): 385-93, 2006 May.

Artigo em Inglês | MEDLINE | ID: mdl-16055927

12.

[Discovery and crystallographic structure of human apolipoprotein]. / Découverte et structure cristallographique d'une apolipoprotéine humaine.

Morales, R; Berna, A; Carpentier, P; Contreras-Martel, C; Renault, F; Nicodeme, M; Chesne-Seck, M-L; Bernier, F; Dupuy, J; Schaeffer, C; Diemer, H; Van-Dorsselaer, A; Fontecilla-Camps, J C; Masson, P; Rochu, D; Chabrière, E.

Ann Pharm Fr ; 65(2): 98-107, 2007 Mar.

Artigo em Francês | MEDLINE | ID: mdl-17404543

13.

Molecular cloning of mRNAs expressed specifically during spherulation of Physarum polycephalum.

Bernier, F; Pallotta, D; Lemieux, G.

Biochim Biophys Acta ; 867(4): 234-43, 1986 Aug 22.

Artigo em Inglês | MEDLINE | ID: mdl-3755618

14.

Management of sexually transmitted diseases and HIV prevention in men at high risk: targeting clients and non-paying sexual partners of female sex workers in Benin.

Lowndes, C M; Alary, M; Gnintoungbé, C A; Bédard, E; Mukenge, L; Geraldo, N; Jossou, P; Lafia, E; Bernier, F; Baganizi, E; Joly, J; Frost, E; Anagonou, S.

AIDS ; 14(16): 2523-34, 2000 Nov 10.

Artigo em Inglês | MEDLINE | ID: mdl-11101064

15.

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.

Dobson-Stone, C; Cox, R D; Lonie, L; Southam, L; Fraser, M; Wise, C; Bernier, F; Hodgson, S; Porter, D E; Simpson, A H; Monaco, A P.

Eur J Hum Genet ; 8(1): 24-32, 2000 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-10713884

16.

Gene families encode the major encystment-specific proteins of Physarum polycephalum plasmodia.

Bernier, F; Lemieux, G; Pallotta, D.

Gene ; 59(2-3): 265-77, 1987.

Artigo em Inglês | MEDLINE | ID: mdl-2830170

17.

Diagnostic criteria for respiratory chain disorders in adults and children.

Bernier, F P; Boneh, A; Dennett, X; Chow, C W; Cleary, M A; Thorburn, D R.

Neurology ; 59(9): 1406-11, 2002 Nov 12.

Artigo em Inglês | MEDLINE | ID: mdl-12427892

18.

Steroid sulfotransferases.

Luu-The, V; Bernier, F; Dufort, I.

J Endocrinol ; 150 Suppl: S87-97, 1996 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-8943792

19.

Cloning and expression of cDNA encoding human placental estrogen sulfotransferase.

Bernier, F; Lopez Solache, I; Labrie, F; Luu-The, V.

Mol Cell Endocrinol ; 99(1): R11-5, 1994 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-8187949

20.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

Robertson, S P; Kirk, E; Bernier, F; Brereton, J; Turner, A; Bankier, A.

Am J Med Genet ; 85(4): 395-402, 1999 Aug 06.

Artigo em Inglês | MEDLINE | ID: mdl-10398267

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