Edmond Lemire

Edmond Lemire

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Edmond Lemire

Edmond Lemire

Publications by authors named "Edmond Lemire"

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Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

Am J Med Genet A 2017 May 28;173(5):1452. Epub 2017 Mar 28.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan.

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http://dx.doi.org/10.1002/ajmg.a.38227DOI Listing
May 2017

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.

Am J Med Genet A 2017 May 3;173(5):1287-1293. Epub 2017 Apr 3.

The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38176DOI Listing
May 2017

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

Am J Med Genet A 2017 Mar 27;173(3):596-600. Epub 2016 Sep 27.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37983DOI Listing
March 2017

The differential diagnosis of spastic diplegia.

Arch Dis Child 2015 May 18;100(5):500-4. Epub 2014 Nov 18.

Division of Pediatric Neurology, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

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http://dx.doi.org/10.1136/archdischild-2014-307443DOI Listing
May 2015

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Mol Genet Genomic Med 2014 Nov 15;2(6):539-47. Epub 2014 Sep 15.

The Centre for Applied Genomics, The Hospital for Sick Children Toronto, Ontario, Canada ; Division of Molecular Genetics, The Hospital for Sick Children Toronto, Ontario, Canada ; Department of Molecular Genetics, The University of Toronto Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mgg3.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303224PMC
November 2014

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.

1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

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http://www.nature.com/articles/ncomms5483
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http://dx.doi.org/10.1038/ncomms5483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109005PMC
July 2014

Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series.

J Med Case Rep 2013 Apr 26;7:117. Epub 2013 Apr 26.

Division of Medical Genetics, Royal University Hospital, 103 Hospital Drive, Saskatoon, SK S7N 0W8, Canada.

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http://dx.doi.org/10.1186/1752-1947-7-117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651317PMC
April 2013

Perinatal and childhood morbidity and mortality in congenital analbuminemia.

Paediatr Child Health 2012 Jun;17(6):e20-3

Department of Pediatrics, Division of Neonatology, University of Alberta, Edmonton, Alberta;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380755PMC
June 2012

Spinal CSF leaks: mimicker of primary headache disorder in a child.

Can J Neurol Sci 2012 May;39(3):388-92

Department of Radiology, Loma Linda Medical Center, Loma Linda, California, USA.

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http://dx.doi.org/10.1017/s0317167100013573DOI Listing
May 2012

Familial interstitial pulmonary fibrosis: a large family with atypical clinical features.

Can Respir J 2010 Nov-Dec;17(6):269-74

Department of Pathology, Department of Medicine, Division of Respirology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3006149PMC
http://dx.doi.org/10.1155/2010/591523DOI Listing
April 2012

Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax.

CMAJ 2011 Jun 28;183(9):E601-3. Epub 2011 Feb 28.

Department of Respirology, University of Saskatchewan, Saskatoon, Saskatchewan.

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http://www.cmaj.ca/cgi/doi/10.1503/cmaj.092121
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http://dx.doi.org/10.1503/cmaj.092121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3114937PMC
June 2011

Familial RYR 1 mutation associated with mild and severe central core disease.

Can J Neurol Sci 2010 Jul;37(4):528-31

Department of Pediatrics, College of Medicine, University of Saskatchewan, Saskatoon, SK, Canada.

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http://dx.doi.org/10.1017/s031716710001060xDOI Listing
July 2010

Sotos syndrome: antenatal presentation.

Am J Med Genet A 2008 May;146A(10):1312-3

IWK Health Centre, Maritime Medical Genetics Service, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32283DOI Listing
May 2008

Clinical and radiologic findings in an adult male with dysosteosclerosis.

Am J Med Genet A 2008 Feb;146A(4):474-8

Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32182DOI Listing
February 2008

Congenital anterolateral tibial bowing and polydactyly: a case report.

Authors:
Edmond G Lemire

J Med Case Rep 2007 Jul 23;1:54. Epub 2007 Jul 23.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, S7N 0W8, Canada.

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http://dx.doi.org/10.1186/1752-1947-1-54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1948010PMC
July 2007

Ophthalmic findings in Setleis syndrome: two new cases in a mother and son.

Can J Ophthalmol 2007 Jun;42(3):471-3

College of Medicine, University of Saskatchewan, Saskatoon, Sask.

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http://dx.doi.org/10.3129/can j ophthalmol.i07-065DOI Listing
June 2007

Omphalocele in an infant with Cornelia de Lange syndrome.

Authors:
Edmond G Lemire

Clin Dysmorphol 2006 Oct;15(4):255-6

Division of Medical Genetics, Royal University Hospital, Saskatoon, SK, Canada.

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https://insights.ovid.com/crossref?an=00019605-200610000-000
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http://dx.doi.org/10.1097/01.mcd.0000228419.74413.1bDOI Listing
October 2006

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation.

Pediatr Radiol 2006 Aug 8;36(8):866-9. Epub 2006 Jun 8.

Department of Medical Imaging, University of Saskatchewan, Saskatoon, S7N 0W8, Saskatchewan, Canada.

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http://dx.doi.org/10.1007/s00247-006-0181-7DOI Listing
August 2006

Epidural labour analgesia in a parturient with Noonan syndrome: a case report.

Can J Anaesth 2006 Mar;53(3):274-8

Department of Anesthesia, College of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

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http://dx.doi.org/10.1007/BF03022215DOI Listing
March 2006

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

Hum Mutat 2005 Mar;25(3):320-1

Cancer Research Program, The Hospital for Sick Children, and Department of Immunology, University of Toronto, Toronto, Canada M5G 1X8.

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http://dx.doi.org/10.1002/humu.9312DOI Listing
March 2005

Short stature, pulmonary hypertension, sclerodactyly-like involvement and dysmorphic appearance: a newly described syndrome?

Clin Dysmorphol 2004 Oct;13(4):227-30

Division of Medical Genetics, Department of Pediatrics, Royal University Hospital, Saskatoon, SK, Canada.

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http://dx.doi.org/10.1097/00019605-200410000-00005DOI Listing
October 2004

Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies.

Authors:
Edmond G Lemire

Am J Med Genet 2002 Dec;113(3):286-90

Division of Medical Genetics, Department of Pediatrics, Royal University Hospital and University of Saskatchewan, 103 Hospital Drive, Saskatoon, Saskatchewan, S7N 0W8, Canada.

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http://doi.wiley.com/10.1002/ajmg.10782
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http://dx.doi.org/10.1002/ajmg.10782DOI Listing
December 2002

Bowen-Conradi syndrome.

Authors:
Edmond G Lemire

Clin Dysmorphol 2002 Apr;11(2):149

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http://dx.doi.org/10.1097/00019605-200204000-00018DOI Listing
April 2002

Saskatchewan continues breast cancer screening.

Authors:
Edmond G Lemire

CMAJ 2002 Apr;166(8):1012

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC100868PMC
April 2002

Dominant beta-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG-->Tg).

Hemoglobin 2002 Feb;26(1):83-6

Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Ontario, Canada.

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http://dx.doi.org/10.1081/hem-120002945DOI Listing
February 2002