Publications by authors named "Elena J Tucker"

22Publications

TP63-truncating variants cause isolated premature ovarian insufficiency.

Hum Mutat 2019 07 29;40(7):886-892. Epub 2019 Mar 29.

Reproductive Development, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/humu.23744DOI Listing
July 2019

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.

Eur J Hum Genet 2018 09 30;26(9):1319-1328. Epub 2018 Apr 30.

Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.

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http://dx.doi.org/10.1038/s41431-018-0140-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117257PMC
September 2018

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.

Endocr Rev 2016 12 3;37(6):609-635. Epub 2016 Oct 3.

Murdoch Children's Research Institute (E.J.T., S.R.G., A.H.S.), Royal Children's Hospital, Melbourne, VIC 3052 Australia; Department of Paediatrics (E.J.T., S.R.G., A.H.S.), University of Melbourne, Melbourne, VIC 3010, Australia; Department of Paediatric and Adolescent Gynaecology (S.R.G.), Royal Children's Hospital, Melbourne, VIC 3052, Australia; Assistance Publique Hôpitaux de Paris, (A.B., P.T.), IE3M, Université Pierre et Marie Curie, Paris 6 University, Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et des Pathologies Gynécologiques Rares, Pitié-Salpêtrière Hospital, Université Pierre et Marie Curie, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale (A.B., P.T.), 75654 Paris, France.

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http://dx.doi.org/10.1210/er.2016-1047DOI Listing
December 2016

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Am J Hum Genet 2014 Feb 23;94(2):209-22. Epub 2014 Jan 23.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928654PMC
February 2014

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

PLoS Genet 2013 26;9(12):e1004034. Epub 2013 Dec 26.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia ; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1004034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873243PMC
August 2014

Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

Hum Mutat 2012 Feb 22;33(2):411-8. Epub 2011 Dec 22.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/humu.21654DOI Listing
February 2012

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.

J Mol Biol 2011 Dec 14;414(3):413-26. Epub 2011 Oct 14.

Centre for Reproduction and Development, Monash Institute of Medical Research, Clayton 3168, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S002228361101136
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http://dx.doi.org/10.1016/j.jmb.2011.10.012DOI Listing
December 2011

The molecular basis of human complex I deficiency.

IUBMB Life 2011 Sep 15;63(9):669-77. Epub 2011 Jul 15.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/iub.495DOI Listing
September 2011

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Eur J Hum Genet 2011 Jul 2;19(7):769-75. Epub 2011 Mar 2.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2011.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137493PMC
July 2011

Recent advances in the genetics of mitochondrial encephalopathies.

Curr Neurol Neurosci Rep 2010 Jul;10(4):277-85

Murdoch Childrens Research Institute, The Royal Children's Hospital, 10th Floor, Flemington Road, Parkville, Victoria, 3052, Australia.

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http://dx.doi.org/10.1007/s11910-010-0112-8DOI Listing
July 2010