Zobrazeno 1 - 10
of 239
pro vyhledávání: '"Eric Haan"'
Autor:
Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance
Externí odkaz:
https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14
Publikováno v:
F1000Research, Vol 10 (2021)
Background: Genetic testing in clinical trials introduces several ethical and logistical issues to discuss with potential participants when taking informed consent. The aim of this study was to explore the attitudes of healthy volunteers in phase 1 s
Externí odkaz:
https://doaj.org/article/dd26bed9e01247e9aa15ccf59f01778d
Autor:
Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, Elizabeth Thompson, Christopher Barnett, Eric Haan, Mary-Louise Freckmann, Anne Turner, Susan White, Ben Kamien, Alan Ma, Fiona Mackenzie, Gareth Baynam, Cathy Kiraly-Borri, Michael Field, Tracey Dudding-Byth, Elizabeth M. Algar
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-13 (2018)
Abstract Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with a population frequency of approximately 1 in 10,000. The most common epigenetic defect in BWS is a loss of methylation (LOM) at the 11p15.5 imprinting centre, KCNQ1O
Externí odkaz:
https://doaj.org/article/ec81829129324b9a8a4e10b98c5eb320
Autor:
Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P. Burdon
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son. Method Fifty-one genes associated w
Externí odkaz:
https://doaj.org/article/737213cdaf4e448aacbcdef911e60689
Autor:
Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R Fitzpatrick, R Frank Kooy
Publikováno v:
PLoS Genetics, Vol 10, Iss 4, p e1004242 (2014)
Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID). Cytogenetic expression results from CGG tri-nucl
Externí odkaz:
https://doaj.org/article/d3dcf43d51eb47b5b7cbeb70d07b6dc0
Autor:
Jordan R. Hansford, Manika Pal, Nicola Poplawski, Eric Haan, Bernadette Boog, Antonio Ferrante, Joie Davis, Julie E. Niemela, V. Koneti Rao, Ram Suppiah
Publikováno v:
Haematologica, Vol 98, Iss 4 (2013)
Externí odkaz:
https://doaj.org/article/7aae7ccfbe554631ba97efb487bab3d1
Autor:
Carol Dobson-Stone, Marianne Hallupp, Clement T Loy, Elizabeth M Thompson, Eric Haan, Carolyn M Sue, Peter K Panegyres, Cristina Razquin, Manuel Seijo-Martínez, Ramon Rene, Jordi Gascon, Jaume Campdelacreu, Birgit Schmoll, Alexander E Volk, William S Brooks, Peter R Schofield, Pau Pastor, John B J Kwok
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e56899 (2013)
A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the freq
Externí odkaz:
https://doaj.org/article/34d9fa3edd3248f2999405cb91c6ba3c
Autor:
Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q.C.M. Barge-Schaapveld, Maarten P. van den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D.H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H.M. van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe Reuter, Christopher Semsarian, Jasper J. van der Smagt, Tina Thompson, Jitendra Vohra, Paul G.A. Volders, Jaap I. van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S. Amin, Arthur A.M. Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter van Tintelen, Jodie Ingles
Publikováno v:
Circulation. Genomic and Precision Medicine, 16, 1
Circulation: Genomic and Precision Medicine, 16(1):E003672. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Genomic and precision medicine, 16(1). Lippincott Williams and Wilkins Ltd.
Circulation: Genomic and Precision Medicine, 16(1), 69-79. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 16
Circulation: Genomic and Precision Medicine, 16(1). Lippincott Williams & Wilkins
Circulation: Genomic and Precision Medicine, 16(1):E003672. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Genomic and precision medicine, 16(1). Lippincott Williams and Wilkins Ltd.
Circulation: Genomic and Precision Medicine, 16(1), 69-79. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 16
Circulation: Genomic and Precision Medicine, 16(1). Lippincott Williams & Wilkins
Background: Truncating variants in desmoplakin ( DSP tv) are an important cause of arrhythmogenic cardiomyopathy; however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168e6f2d791aa1fd96556c202c710360
Autor:
Edgar T, Hoorntje, Charlotte, Burns, Luisa, Marsili, Ben, Corden, Victoria N, Parikh, Gerard J, Te Meerman, Belinda, Gray, Ahmet, Adiyaman, Richard D, Bagnall, Daniela Q C M, Barge-Schaapveld, Maarten P, van den Berg, Marianne, Bootsma, Laurens P, Bosman, Gemma, Correnti, Johan, Duflou, Ruben N, Eppinga, Diane, Fatkin, Michael, Fietz, Eric, Haan, Jan D H, Jongbloed, Arnaud D, Hauer, Lien, Lam, Freyja H M, van Lint, Amrit, Lota, Carlo, Marcelis, Hugh J, McCarthy, Anneke M, van Mil, Rogier A, Oldenburg, Nicholas, Pachter, R Nils, Planken, Chloe, Reuter, Christopher, Semsarian, Jasper J, van der Smagt, Tina, Thompson, Jitendra, Vohra, Paul G A, Volders, Jaap I, van Waning, Nicola, Whiffin, Arthur, van den Wijngaard, Ahmad S, Amin, Arthur A M, Wilde, Gijs, van Woerden, Laura, Yeates, Dominica, Zentner, Euan A, Ashley, Matthew T, Wheeler, James S, Ware, J Peter, van Tintelen, Jodie, Ingles
Publikováno v:
Circulation. Genomic and precision medicine.
Truncating variants in desmoplakin (Individuals withThere were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with aIn the largest series of individuals with
Autor:
Ella Thomson, Minh Tran, Gorjana Robevska, Katie Ayers, Jocelyn van der Bergen, Prarthna Gopalakrishnan Bhaskaran, Eric Haan, Silvia Cereghini, Alla Vash-Margita, Miranda Margetts, Alison Hensley, Quan Nguyen, Andrew Sinclair, Peter Koopman, Emanuele Pelosi
Publikováno v:
Human molecular genetics.
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a congenital condition characterized by aplasia or hypoplasia of the uterus and vagina in women with a 46,XX karyotype. This condition can occur as type I when isolated or as type II when assoc