Bruno Maranda

Bruno Maranda

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Bruno Maranda

Bruno Maranda

Publications by authors named "Bruno Maranda"

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42Publications

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Tandem mass spectrometry analysis of urinary podocalyxin and podocin in the investigation of podocyturia in women with preeclampsia and Fabry disease patients.

Clin Chim Acta 2019 Aug 19;495:67-75. Epub 2019 Mar 19.

Division of Medical Genetics, Department of Pediatrics, Université de Sherbrooke, Centre de recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2019.03.1615DOI Listing
August 2019

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.

Genet Med 2018 09 1;20(9):942-949. Epub 2018 Feb 1.

Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Canada.

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http://dx.doi.org/10.1038/gim.2017.239DOI Listing
September 2018

Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.

Biochim Biophys Acta Mol Basis Dis 2017 02 1;1863(2):386-394. Epub 2016 Dec 1.

Institute of Medical Science, University of Toronto, Toronto M5G 1L7, Canada; Department of Medical Biophysics, University of Toronto, Toronto M5G 1L7, Canada; University Health Network, Toronto M5G 1L7, Canada; Medical College of Wisconsin, Milwaukee, WI 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.11.031DOI Listing
February 2017

UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses.

Anal Chim Acta 2016 Sep 2;936:139-48. Epub 2016 Jul 2.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.aca.2016.06.054DOI Listing
September 2016

Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.

Am J Med Genet A 2016 Apr 29;170A(4):896-907. Epub 2016 Jan 29.

Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Québec, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.37428
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http://dx.doi.org/10.1002/ajmg.a.37428DOI Listing
April 2016

Evaluation of urinary keratan sulfate disaccharides in MPS IVA patients using UPLC-MS/MS.

Bioanalysis 2016 Feb 25;8(3):179-91. Epub 2016 Jan 25.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine & Health Sciences, Centre de recherche - CHUS, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada.

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http://dx.doi.org/10.4155/bio.15.239DOI Listing
February 2016

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.

Medicine (Baltimore) 2014 Dec;93(29):e327

From the Department of Microbiology, Infectiology and Immunology, University of Montreal, Montreal, Canada (IF, EH, FLD); Department of Microbiology and Immunology, CHU Sainte-Justine, Montreal, Canada (IF, FLD); CHU Sainte-Justine Research Center, Montreal, Canada (IF, NP, EH, HD, FLD); Department of Pathology and Cell Biology, CHU Sainte-Justine and University of Montreal, Montreal, Canada (NP); Department of Paediatrics, University of Montreal, Montreal, Canada (VM, EH, HD, FLD); Division of Gastroenterology, Hepatology and Nutrition, CHU Sainte-Justine, Montreal, Canada (VM); Histology Facility, IRIC, University of Montreal, Montreal, Montreal, Canada (MB); Medical Genetics Service, University of Sherbrooke, Sherbrooke, Canada (BM); and Division of Rheumatology, Immunology and Allergology, CHU Sainte-Justine Montreal, Canada (EH, HD, FLD).

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http://dx.doi.org/10.1097/MD.0000000000000327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602622PMC
December 2014

High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.

Clin Chim Acta 2014 Sep 6;436:249-55. Epub 2014 Jun 6.

Service of Genetics, Dept. of Pediatrics, Faculty of Medicine and Health Sciences, 3001, 12th Avenue North, Université de Sherbrooke, Sherbrooke J1H 5N4, QC Canada.

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http://dx.doi.org/10.1016/j.cca.2014.05.024DOI Listing
September 2014

Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old.

Pediatr Radiol 2013 Sep 5;43(9):1227-30. Epub 2013 Mar 5.

Diagnostic Radiology, Hopital Cité de la Santé, Québec, Canada.

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http://dx.doi.org/10.1007/s00247-013-2658-5DOI Listing
September 2013

Idiopathic subglottic stenosis: a familial predisposition.

Ann Thorac Surg 2013 Mar;95(3):1084-6

Department of Medicine, University of Sherbrooke, Sherbrooke, Quebec.

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http://dx.doi.org/10.1016/j.athoracsur.2012.07.076DOI Listing
March 2013

Unusual respiratory manifestations in two young adults with Duchenne muscular dystrophy.

Can Respir J 2012 Jan-Feb;19(1):37-40

Centre de recherche, Institut Universitaire de cardiologie et de pneumologie de Québec, Universite Laval, Québec.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299052PMC
http://dx.doi.org/10.1155/2012/909656DOI Listing
December 2012

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

J Med Genet 2012 Oct 25;49(10):636-41. Epub 2012 Sep 25.

Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1136/jmedgenet-2012-101132DOI Listing
October 2012

An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper.

Clin Chim Acta 2012 Apr 20;413(7-8):771-8. Epub 2012 Jan 20.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.

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http://dx.doi.org/10.1016/j.cca.2012.01.012DOI Listing
April 2012

Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.

Clin Biochem 2012 Jan 7;45(1-2):88-91. Epub 2011 Nov 7.

Department of Genetics, CHUS and Université de Sherbrooke, Sherbrooke, Québec, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S000991201102705
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http://dx.doi.org/10.1016/j.clinbiochem.2011.10.019DOI Listing
January 2012

A survey of APC mutations in Quebec.

Fam Cancer 2011 Dec;10(4):659-65

Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, Montreal, QC H3T 1E2, Canada.

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http://link.springer.com/content/pdf/10.1007/s10689-011-9468
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http://link.springer.com/10.1007/s10689-011-9468-4
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http://dx.doi.org/10.1007/s10689-011-9468-4DOI Listing
December 2011

Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation.

J Med Genet 2011 Dec 1;48(12):851-5. Epub 2011 Oct 1.

Centre de Recherche du Centre Hospitalier Universitaire de Québec (CRCHUQ), Faculté de Médecine, Université Laval, Québec, Qc, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2011-100304DOI Listing
December 2011

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

Am J Med Genet A 2011 Jun 12;155A(6):1272-80. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.33878DOI Listing
June 2011

Citrin deficiency, a perplexing global disorder.

Mol Genet Metab 2009 Jan 25;96(1):44-9. Epub 2008 Nov 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.007DOI Listing
January 2009

Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis.

J Bone Miner Res 2008 Feb;23(2):296-300

Service de Génétique Médicale, Département de pédiatrie, CHUL-CHUQ, Université Laval, Quebec, Canada.

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http://dx.doi.org/10.1359/jbmr.071015DOI Listing
February 2008

False positives in plasma ammonia measurement and their clinical impact in a pediatric population.

Clin Biochem 2007 May 12;40(8):531-5. Epub 2007 Mar 12.

Department of Pediatrics, Medical Genetics Division, Ste-Justine Hospital and Université de Montréal, 3175 Côte Ste-Catherine, Montréal, QC, Canada H3T 1C5.

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http://dx.doi.org/10.1016/j.clinbiochem.2007.01.024DOI Listing
May 2007

Familial deletion 18p syndrome: case report.

BMC Med Genet 2006 Jul 14;7:60. Epub 2006 Jul 14.

Service de génétique médicale, Département de Pédiatrie, CHU Ste-Justine, Université de Montréal, Montréal, Canada.

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http://dx.doi.org/10.1186/1471-2350-7-60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1540411PMC
July 2006