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25 results for McInerney-Leo,+Aideen+M

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Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?
Author / Creator:Seabrook, Amanda J ; Harris, Jessica E ; Velosa, Sofia B ; Kim, Edward ; McInerney-Leo, Aideen M ; Dwight, Trisha ; Hockings, Jason I ; Hockings, Nicholas G ; Kirk, Judy ; Leo, Paul J ; Love, Amanda J ; Luxford, Catherine ; Marshall, Mhairi ; Mete, Ozgur ; Pennisi, David J ; Brown, Matthew A ; Gill, Anthony J ; Hockings, Gregory I ; Clifton-Bligh, Roderick J ; Duncan, Emma L
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2021-04, Vol.106 (4), p.e1163-e1182
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Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome
Author / Creator:McInerney‐Leo, Aideen M. ; West, Jennifer ; Wheeler, Lawrie ; Leo, Paul J. ; Summers, Kim M. ; Anderson, Lisa ; Brown, Matthew A. ; West, Malcolm ; Duncan, Emma L.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1116-n/a
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Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma
Author / Creator:Primiero, Clare A. ; Finnane, Anna ; Yanes, Tatiane ; Peach, Betsy ; Soyer, H. Peter ; McInerney-Leo, Aideen M.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2022-12, Vol.17 (12), p.e0275926
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Factors influencing cancer genetic somatic mutation test ordering by cancer physician
Author / Creator:Demeshko, Anastassia ; Pennisi, David J. ; Narayan, Sushil ; Gray, Stacy W. ; Brown, Matthew A. ; McInerney-Leo, Aideen M.
Publisher:England: BioMed Central Ltd
Journal title:Journal of translational medicine, 2020-11, Vol.18 (1), p.431-7, Article 431
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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants
Author / Creator:Rayner, Jenna E. ; Duffy, David L. ; Smit, Darren J. ; Jagirdar, Kasturee ; Lee, Katie J. ; De’Ambrosis, Brian ; Smithers, B. Mark ; McMeniman, Erin K. ; McInerney-Leo, Aideen M. ; Schaider, Helmut ; Stark, Mitchell S. ; Soyer, H. Peter ; Sturm, Richard A.
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2020-09, Vol.15 (9), p.e0238529
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Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial
Author / Creator:Primiero, Clare Amy ; McInerney-Leo, Aideen M ; Betz-Stablein, Brigid ; Whiteman, David C ; Gordon, Louisa ; Caffery, Liam ; Aitken, Joanne F ; Eakin, Elizabeth ; Osborne, Sonya ; Gray, Len ; Smithers, B Mark ; Janda, Monika ; Soyer, H Peter ; Finnane, Anna
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2019-11, Vol.9 (11), p.e032969
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Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy,...
Author / Creator:Chang, Anne B ; Morgan, Lucy C ; Duncan, Emma L ; Chatfield, Mark D ; Schultz, André ; Leo, Paul J ; McCallum, Gabrielle B ; McInerney-Leo, Aideen M ; McPhail, Steven M ; Zhao, Yuejen ; Kruljac, Catherine ; Smith-Vaughan, Heidi C ; Morris, Peter S ; Marchant, Julie M ; Yerkovich, Stephanie T ; Cook, Anne L ; Wurzel, Danielle ; Versteegh, Lesley ; O’Farrell, Hannah ; McElrea, Margaret S ; Fletcher, Sabine ; D'Antoine, Heather ; Stroil-Salama, Enna ; Robinson, Phil J ; Grimwood, Keith
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ open respiratory research, 2022-05, Vol.9 (1), p.e001236
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NAD Deficiency, Congenital Malformations, and Niacin Supplementation
Author / Creator:Shi, Hongjun ; Enriquez, Annabelle ; Rapadas, Melissa ; Martin, Ella M.M.A ; Wang, Roni ; Moreau, Julie ; Lim, Chai K ; Szot, Justin O ; Ip, Eddie ; Hughes, James N ; Sugimoto, Kotaro ; Humphreys, David T ; McInerney-Leo, Aideen M ; Leo, Paul J ; Maghzal, Ghassan J ; Halliday, Jake ; Smith, Janine ; Colley, Alison ; Mark, Paul R ; Collins, Felicity ; Sillence, David O ; Winlaw, David S ; Ho, Joshua W.K ; Guillemin, Gilles J ; Brown, Matthew A ; Kikuchi, Kazu ; Thomas, Paul Q ; Stocker, Roland ; Giannoulatou, Eleni ; Chapman, Gavin ; Duncan, Emma L ; Sparrow, Duncan B ; Dunwoodie, Sally L
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2017-08, Vol.377 (6), p.544-552
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POT1 and multiple primary melanomas: the dermatological phenotype
Author / Creator:Maas, Ellie J ; DeBortoli, Emily ; Nathan, Vaishnavi ; Freeman, Ned P ; Mothershaw, Adam ; Smit, Darren J ; Betz-Stablein, Brigid ; Aoude, Lauren G ; Stark, Mitchell S ; Sturm, Richard A ; Soyer, H Peter ; McInerney-Leo, Aideen M
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-09, Vol.61 (9), p.891-894
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Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia
Author / Creator:DeBortoli, Emily ; McInerney-Leo, Aideen M. ; Ayres, Samantha ; Boyle, Jackie ; Jacobs, Chris ; Newson, Ainsley J.
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Twin research and human genetics, 2023-04, Vol.26 (2), p.184-187
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GOLM1: expanding our understanding of melanoma susceptibility
Author / Creator:Maas, Ellie J. ; Wallingford, Courtney K. ; DeBortoli, Emily ; Smit, Darren J ; Betz-Stablein, Brigid ; Aoude, Lauren G ; Stark, Mitchell S ; Sturm, Richard A. ; Soyer, H. Peter ; McInerney-Leo, Aideen M
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-09, Vol.60 (9), p.835-837
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A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium
Author / Creator:Tiller, Jane M ; Keogh, Louise A ; McInerney-Leo, Aideen M ; Belcher, Andrea ; Barlow-Stewart, Kristine ; Boughtwood, Tiffany ; Gleeson, Penny ; Dowling, Grace ; Prince, Anya ; Bombard, Yvonne ; Joly, Yann ; Delatycki, Martin ; Winship, Ingrid M ; Otlowski, Margaret ; Lacaze, Paul
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-08, Vol.59 (8), p.817-826
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Australian human research ethics committee members’ confidence in reviewing genomic research applications
Author / Creator:Ryan, Pysar ; Wallingford, Courtney K ; Boyle, Jackie ; Campbell, Scott B ; Eckstein, Lisa ; McWhirter Rebekah ; Terrill Bronwyn ; Jacobs, Chris ; McInerney-Leo, Aideen M
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-12, Vol.29 (12), p.1811-1818
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Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
Author / Creator:McInerney-Leo, Aideen M ; Le Goff, Carine ; Leo, Paul J ; Kenna, Tony J ; Keith, Patricia ; Harris, Jessica E ; Steer, Ruth ; Bole-Feysot, Christine ; Nitschke, Patrick ; Kielty, Cay ; Brown, Matthew A ; Zankl, Andreas ; Duncan, Emma L ; Cormier-Daire, Valerie
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-07, Vol.53 (7), p.457-464
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The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence
Author / Creator:Atkinson, Caroline ; McInerney-Leo, Aideen M. ; Proctor, Martina ; Lanagan, Catherine ; Stevenson, Alexander J. ; Dehkhoda, Farhad ; Caole, Mary ; Maas, Ellie ; Ainger, Stephen ; Pritchard, Antonia L. ; Johansson, Peter A. ; Leo, Paul ; Hayward, Nicholas K. ; Sturm, Richard A. ; Duncan, Emma L. ; Gabrielli, Brian
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-02, Vol.25 (3), p.1664
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Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function
Author / Creator:Cortés, Claudio R. ; McInerney-Leo, Aideen M. ; Vogel, Ida ; Rondón Galeano, Maria C. ; Leo, Paul J. ; Harris, Jessica E. ; Anderson, Lisa K. ; Keith, Patricia A. ; Brown, Matthew A. ; Ramsing, Mette ; Duncan, Emma L. ; Zankl, Andreas ; Wicking, Carol
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-04, Vol.6 (1), p.24083-24083, Article 24083
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Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
Author / Creator:Maharaj, Avinaash ; Buonocore, Federica ; Meimaridou, Eirini ; Ruiz-Babot, Gerard ; Guasti, Leonardo ; Peng, Hwei-Ming ; Capper, Cameron P ; Burgos-Tirado, Neikelyn ; Prasad, Rathi ; Hughes, Claire R ; Maudhoo, Ashwini ; Crowne, Elizabeth ; Cheetham, Timothy D ; Brain, Caroline E ; Suntharalingham, Jenifer P ; Striglioni, Niccolò ; Yuksel, Bilgin ; Gurbuz, Fatih ; Gupta, Sangay ; Lindsay, Robert ; Couch, Robert ; Spoudeas, Helen A ; Guran, Tulay ; Johnson, Stephanie ; Fowler, Dallas J ; Conwell, Louise S ; McInerney-Leo, Aideen M ; Drui, Delphine ; Cariou, Bertrand ; Lopez-Siguero, Juan P ; Harris, Mark ; Duncan, Emma L ; Hindmarsh, Peter C ; Auchus, Richard J ; Donaldson, Malcolm D ; Achermann, John C ; Metherell, Louise A
Publisher:Washington, DC: Endocrine Society
Journal title:Journal of the Endocrine Society, 2019-01, Vol.3 (1), p.201-221
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The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V
Author / Creator:Lazarus, Syndia ; McInerney-Leo, Aideen M ; McKenzie, Fiona A ; Baynam, Gareth ; Broley, Stephanie ; Cavan, Barbra V ; Munns, Craig F ; Pruijs, Johannes Egbertus Hans ; Sillence, David ; Terhal, Paulien A ; Pryce, Karena ; Brown, Matthew A ; Zankl, Andreas ; Thomas, Gethin ; Duncan, Emma L
Publisher:England: BioMed Central Ltd
Journal title:BMC musculoskeletal disorders, 2014-03, Vol.15 (1), p.107-107, Article 107
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Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia
Author / Creator:Surampalli, Abhilasha ; Khare, Manaswitha ; Kubrussi, Georgette ; Wencel, Marie ; Tanaja, Jasmin ; Donkervoort, Sandra ; Osann, Kathryn ; Simon, Mariella ; Wallace, Douglas ; Smith, Charles ; M.McInerney-Leo, Aideen ; Kimonis, Virginia
Publisher:New York: Springer US
Journal title:Journal of genetic counseling, 2015-10, Vol.24 (5), p.842-850
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Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing fo...
Author / Creator:Clare A. Primiero ; Anna Finnane ; Tatiane Yanes ; Betsy Peach ; H. Peter Soyer ; Aideen M. McInerney-Leo
Publisher:Public Library of Science (PLoS)
Journal title:PloS one, 2022-01, Vol.17 (12)
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Showing 1 to 20 of 25 results

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Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

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Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

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Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma

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Factors influencing cancer genetic somatic mutation test ordering by cancer physician

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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

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Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial

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Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy,...

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NAD Deficiency, Congenital Malformations, and Niacin Supplementation

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POT1 and multiple primary melanomas: the dermatological phenotype

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Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia

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GOLM1: expanding our understanding of melanoma susceptibility

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A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium

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Australian human research ethics committee members’ confidence in reviewing genomic research applications

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Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

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The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence

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Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

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Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing

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The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

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Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

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Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing fo...

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