Publications by authors named "Patrice Eydoux"

36Publications

Renpenning syndrome in a female.

Am J Med Genet A 2020 03 16;182(3):498-503. Epub 2019 Dec 16.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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March 2020

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Am J Med Genet A 2016 09 4;170(9):2310-21. Epub 2016 Jul 4.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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September 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

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June 2016

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

Am J Med Genet A 2014 Oct 4;164A(10):2656-62. Epub 2014 Aug 4.

Department of Medical Genetics and Child and Family Research Institute, University of British Columbia, Vancouver, Canada.

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October 2014

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Am J Med Genet A 2014 Sep 5;164A(9):2360-4. Epub 2014 Jun 5.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.

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September 2014

Duplication of AKT3 is associated with macrocephaly and speech delay.

Am J Med Genet A 2014 Jul 3;164A(7):1868-9. Epub 2014 Apr 3.

Child and Family Research Institute, Laboratory for Obesity Genetics and Indirect Calorimetry, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada; Department of Medical Genetics, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada.

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July 2014

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.

Am J Med Genet A 2014 Jun 25;164A(6):1587-94. Epub 2014 Mar 25.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.

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June 2014

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

Am J Hum Genet 2014 Mar 13;94(3):453-61. Epub 2014 Feb 13.

Division of Biochemical Diseases, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Treatable Intellectual Disability Endeavour in British Columbia, BC Children's Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

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March 2014

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Eur J Hum Genet 2014 Jun 20;22(6):792-800. Epub 2013 Nov 20.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Child & Family Research Institute, Vancouver, British Columbia, Canada.

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June 2014

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.

Am J Med Genet A 2012 Oct 17;158A(10):2606-9. Epub 2012 Aug 17.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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October 2012

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

Am J Med Genet A 2012 Sep 6;158A(9):2322-7. Epub 2012 Aug 6.

Department of Pathology and Laboratory Medicine, University of British Columbia, Children's & Women's Hospital, Vancouver, BC, Canada.

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September 2012

Possible differentiation of cerebral glioblastoma into pleomorphic xanthoastrocytoma: an unusual case in an infant.

J Neurosurg Pediatr 2012 May;9(5):517-23

Department of Surgery, Division of Neurosurgery, Children's and Women's Health Centre of British Columbia and University of British Columbia, Vancouver, British Columbia.

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May 2012

Uniparental disomy: can SNP array data be used for diagnosis?

Genet Med 2013 26;14(8):753-756. Epub 2012 Apr 26.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

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April 2012

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

Eur J Med Genet 2009 Nov-Dec;52(6):436-9. Epub 2009 Sep 17.

Department of Medical Genetics, University of British Columbia, Canada.

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February 2010

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.

Am J Med Genet A 2009 Jun;149A(6):1257-62

Department of Medical Genetics, University of British Columbia, Children's and Women's Hospital, Vancouver, British Columbia, Canada.

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June 2009

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.

Am J Med Genet A 2009 Mar;149A(3):372-9

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

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March 2009

A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity.

Am J Med Genet A 2008 Nov;146A(22):2975-8

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

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November 2008

Inverted duplication with terminal deletion of 5p and no cat-like cry.

Am J Med Genet A 2008 May;146A(9):1173-9

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

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May 2008

Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.

Am J Med Genet A 2007 Dec;143A(24):2931-6

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

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December 2007

Neonatal macrocephaly: cerebral primitive neuroectodermal tumor or neuroblastoma as an infrequent cause--a case report and review of the literature.

Am J Perinatol 2007 Oct 1;24(9):507-9. Epub 2007 Oct 1.

Division of Neonatology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.

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October 2007

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.

Mol Genet Metab 2006 Sep-Oct;89(1-2):129-33. Epub 2006 Jun 9.

Department of Pathology and Laboratory Medicine, Children's & Women's Health Centre of British Columbia, University of British Columbia, Vancouver, BC, Canada V6H 3V4.

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October 2006