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168 results for Delatycki,+Martin+B

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ArticlesPeer ReviewedFull Text
Genetic discrimination by Australian insurance companies: a survey of consumer experiences
Author / Creator:Tiller, Jane ; Morris, Susan ; Rice, Toni ; Barter, Krystal ; Riaz, Moeen ; Keogh, Louise ; Delatycki, Martin B. ; Otlowski, Margaret ; Lacaze, Paul
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.108-113
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Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia
Author / Creator:Kerestes, Rebecca ; Cummins, Hannah ; Georgiou-Karistianis, Nellie ; Selvadurai, Louisa P. ; Corben, Louise A. ; Delatycki, Martin B. ; Egan, Gary F. ; Harding, Ian H.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2023-05, Vol.270 (5), p.2360-2369
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Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement
Author / Creator:Peverill, Roger E. ; Lin, Kimberly Y. ; Fogel, Mark A. ; Cheung, Michael M. H. ; Moir, W. Stuart ; Corben, Louise A. ; Cahoon, Glenn ; Delatycki, Martin B.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-05, Vol.19 (5), p.e0303969
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A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice
Author / Creator:Woodcock, Ian R. ; Tachas, George ; Desem, Nuket ; Houweling, Peter J. ; Kean, Michael ; Emmanuel, Jaiman ; Kennedy, Rachel ; Carroll, Kate ; de Valle, Katy ; Adams, Justine ; Lamandé, Shireen R. ; Coles, Chantal ; Tiong, Chrystal ; Burton, Matthew ; Villano, Daniella ; Button, Peter ; Hogrel, Jean-Yves ; Catling-Seyffer, Sarah ; Ryan, Monique M. ; Delatycki, Martin B. ; Yiu, Eppie M.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-01, Vol.19 (1), p.e0294847-e0294847
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Left ventricular structural and functional changes in Friedreich ataxia – Relationship with body size, sex, age and genetic severity
Author / Creator:Peverill, Roger E. ; Romanelli, Giovanni ; Donelan, Lesley ; Hassam, Rhonda ; Corben, Louise A. ; Delatycki, Martin B.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-11, Vol.14 (11), p.e0225147-e0225147
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Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia
Author / Creator:Peverill, Roger E. ; Donelan, Lesley ; Corben, Louise A. ; Delatycki, Martin B.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-12, Vol.13 (12), p.e0209410
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Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis
Author / Creator:Ong, Sim Yee ; Khoo, Tiffany ; Nicoll, Amanda J. ; Gurrin, Lyle ; Worland, Thomas ; Pateria, Puraskar ; Ramm, Louise E. ; Testro, Adam ; Anderson, Gregory J. ; Skoien, Richard ; Powell, Lawrie W. ; Ramm, Grant A. ; Olynyk, John K. ; Delatycki, Martin B.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-07, Vol.11 (1), p.14654-14654, Article 14654
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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
Author / Creator:Tan, Natalie B. ; Stapleton, Rachel ; Stark, Zornitza ; Delatycki, Martin B. ; Yeung, Alison ; Hunter, Matthew F. ; Amor, David J. ; Brown, Natasha J. ; Stutterd, Chloe A. ; McGillivray, George ; Yap, Patrick ; Regan, Matthew ; Chong, Belinda ; Fanjul Fernandez, Miriam ; Marum, Justine ; Phelan, Dean ; Pais, Lynn S. ; White, Susan M. ; Lunke, Sebastian ; Tan, Tiong Y.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1508-n/a
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Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
Author / Creator:Lynch, David R. ; Goldsberry, Angie ; Rummey, Christian ; Farmer, Jennifer ; Boesch, Sylvia ; Delatycki, Martin B. ; Giunti, Paola ; Hoyle, J. Chad ; Mariotti, Caterina ; Mathews, Katherine D. ; Nachbauer, Wolfgang ; Perlman, Susan ; Subramony, S.H. ; Wilmot, George ; Zesiewicz, Theresa ; Weissfeld, Lisa ; Meyer, Colin
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2024-01, Vol.11 (1), p.4-16
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Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS
Author / Creator:Rummey, Christian ; Harding, Ian H. ; Delatycki, Martin B. ; Tai, Geneieve ; Rezende, Thiago ; Corben, Louise A.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2022-12, Vol.9 (12), p.2041-2046
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Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls
Author / Creator:Thompson, Ella R. ; Gorringe, Kylie L. ; Rowley, Simone M. ; Wong-Brown, Michelle W. ; McInerny, Simone ; Li, Na ; Trainer, Alison H. ; Devereux, Lisa ; Doyle, Maria A. ; Li, Jason ; Lupat, Richard ; Delatycki, Martin B. ; Mitchell, Gillian ; James, Paul A. ; Scott, Rodney J. ; Campbell, Ian G.
Publisher:England: BioMed Central Ltd
Journal title:Breast cancer research : BCR, 2015-08, Vol.17 (1), p.111-111, Article 111
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Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia
Author / Creator:Milne, Sarah C ; Corben, Louise A ; Roberts, Melissa ; Szmulewicz, David ; Burns, J ; Grobler, Anneke C ; Williams, Shannon ; Chua, Jillian ; Liang, Christina ; Lamont, Phillipa J ; Grootendorst, Alison C ; Massey, Libby ; Sue, Carolyn ; Dalziel, Kim ; LaGrappe, Desiree ; Willis, Liz ; Freijah, Aleka ; Gerken, Paul ; Delatycki, Martin B
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2020-12, Vol.10 (12), p.e040230-e040230
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Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia
Author / Creator:Li, Lingli ; Voullaire, Lucille ; Sandi, Chiranjeevi ; Pook, Mark A. ; Ioannou, Panos A. ; Delatycki, Martin B. ; Sarsero, Joseph P.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-02, Vol.8 (2), p.e55940
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Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians
Author / Creator:McLaren, Christine E. ; Chen, Wen-Pin ; Bertalli, Nadine A. ; Delatycki, Martin B. ; Giles, Graham G. ; English, Dallas R. ; Hopper, John L. ; Allen, Katrina J. ; Gurrin, Lyle C.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-03, Vol.14 (3), p.e0214196
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Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper
Author / Creator:Cousens, Nicole E ; Tiller, Jane ; Meiser, Bettina ; Barlow-Stewart, Kristine ; Rowley, Simone ; Ko, Yi-An ; Mahale, Sakshi ; Campbell, Ian G ; Kaur, Rajneesh ; Bankier, Agnes ; Burnett, Leslie ; Jacobs, Chris ; James, Paul A ; Trainer, Alison ; Neil, Suzanne ; Delatycki, Martin B ; Andrews, Lesley
Publisher:London: British Medical Journal Publishing Group
Journal title:BMJ open, 2021-06, Vol.11 (6), p.e041186-e041186
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Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients
Author / Creator:Liu, Jun ; Verma, Paul J. ; Evans-Galea, Marguerite V. ; Delatycki, Martin B. ; Michalska, Anna ; Leung, Jessie ; Crombie, Duncan ; Sarsero, Joseph P. ; Williamson, Robert ; Dottori, Mirella ; Pébay, Alice
Publisher:New York: Humana Press Inc
Journal title:Stem cell reviews, 2011-09, Vol.7 (3), p.703-713
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Interstitial lung disease and pancreatic exocrine insufficiency in CADDS : Phenotypic expansion and literature review
Author / Creator:Heath, Oliver ; Pandithan, Dinusha ; Pitt, James ; Savva, Elena ; Raiti, Laura ; Bracken, Jenny ; Vandeleur, Moya ; Delatycki, Martin B. ; Yaplito‐Lee, Joy ; Hardikar, Winita ; Halligan, Rebecca
Publisher:Hoboken: John Wiley & Sons, Inc
Journal title:JIMD reports, 2023-09, Vol.64 (5), p.337-345
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Preconception and antenatal carrier screening for genetic conditions: 'The critical role of general practitioners'
Author / Creator:Delatycki, Martin B ; Laing, Nigel G ; Moore, Sarah J ; Emery, Jon ; Archibald, Alison D ; Massie, John ; Kirk, Edwin P
Publisher:Sydney: Royal Australian College of General Practitioners
Journal title:Australian journal of general practice, 2019-03, Vol.48 (3), p.106-110
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Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
Author / Creator:Scerri, Thomas ; Riseley, Jessica R. ; Gillies, Greta ; Pope, Kate ; Burgess, Rosemary ; Mandelstam, Simone A. ; Dibbens, Leanne ; Chow, Chung W. ; Maixner, Wirginia ; Harvey, Anthony Simon ; Jackson, Graeme D. ; Amor, David J. ; Delatycki, Martin B. ; Crino, Peter B. ; Berkovic, Samuel F. ; Scheffer, Ingrid E. ; Bahlo, Melanie ; Lockhart, Paul J. ; Leventer, Richard J.
Publisher:United States: BlackWell Publishing Ltd
Journal title:Annals of clinical and translational neurology, 2015-05, Vol.2 (5), p.575-580
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Benefits and burdens of risk management for young people with inherited cancer: A focus on Li-Fraumeni syndrome
Author / Creator:bes Shepherd, Rowan ; Keogh, Louise A ; Werner-Lin, Allison ; Delatycki, Martin B ; rest, Laura E
Publisher:Sydney: Royal Australian College of General Practitioners
Journal title:Australian journal of general practice, 2021-08, Vol.50 (8), p.538-544
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Showing 1 to 20 of 168 results

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Genetic discrimination by Australian insurance companies: a survey of consumer experiences

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Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia

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Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement

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A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

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Left ventricular structural and functional changes in Friedreich ataxia – Relationship with body size, sex, age and genetic severity

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Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

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Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis

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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

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Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

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Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

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Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

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Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia

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Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia

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Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians

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Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper

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Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients

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Interstitial lung disease and pancreatic exocrine insufficiency in CADDS : Phenotypic expansion and literature review

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Preconception and antenatal carrier screening for genetic conditions: 'The critical role of general practitioners'

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Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

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Benefits and burdens of risk management for young people with inherited cancer: A focus on Li-Fraumeni syndrome

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