Publications by authors named "Lynette S Penney"

12Publications

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A 2020 Oct 24. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61926DOI Listing
October 2020

A family segregating lethal neonatal coenzyme Q deficiency caused by mutations in COQ9.

J Inherit Metab Dis 2018 07 20;41(4):719-729. Epub 2018 Mar 20.

Maritime Medical Genetics Service, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS, B3K 6R8, Canada.

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http://dx.doi.org/10.1007/s10545-017-0122-7DOI Listing
July 2018

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Left ventricular noncompaction and coronary artery fistula in an infant with deletion 22q11.2.

Pediatr Cardiol 2011 Feb 14;32(2):208-10. Epub 2010 Dec 14.

Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.

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http://dx.doi.org/10.1007/s00246-010-9837-zDOI Listing
February 2011

Successful outcome in pregnancy with arterial tortuosity syndrome.

Obstet Gynecol 2009 Aug;114(2 Pt 2):494-8

Department of Obstetrics and Gynaecology, Dalhousie University, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1097/AOG.0b013e3181a99e52DOI Listing
August 2009