Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Edwin P. Kirk"'
Autor:
Alison D. Archibald, Belinda J. McClaren, Jade Caruana, Erin Tutty, Emily A. King, Jane L. Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H. Bennetts, Corrina C. Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D. Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin J. Downes, Mathew Wallis, Monica M. Ferrie, Nicholas Pachter, Paul A. Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P. Walker, Tiffany F. Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki, The Mackenzie’s Mission Study Team
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 11, p 1781 (2022)
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be of
Externí odkaz:
https://doaj.org/article/db45c3e4abc84d29b648a7552a4461f9
Autor:
Sushmitha Gururaj, Elizabeth Emma Palmer, Garrett D. Sheehan, Tejaswi Kandula, Rebecca Macintosh, Kevin Ying, Paula Morris, Jiang Tao, Kerith-Rae Dias, Ying Zhu, Marcel E. Dinger, Mark J. Cowley, Edwin P. Kirk, Tony Roscioli, Rani Sachdev, Michael E. Duffey, Ann Bye, Arin Bhattacharjee
Publikováno v:
Cell Reports, Vol 21, Iss 4, Pp 926-933 (2017)
Summary: Early infantile epileptic encephalopathies (EOEE) are a debilitating spectrum of disorders associated with cognitive impairments. We present a clinical report of a KCNT2 mutation in an EOEE patient. The de novo heterozygous variant Phe240Leu
Externí odkaz:
https://doaj.org/article/85354cd3fac64450880f49efeed50447
Autor:
Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David M. Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson
Publikováno v:
Cell Reports, Vol 25, Iss 10, Pp 2729-2741.e6 (2018)
Summary: The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has rendered the brain susceptible to certain neurodevelopmental and neuropsychiatric condi
Externí odkaz:
https://doaj.org/article/d95a7e66dd6f4400b94ec2e97ad2e7b3
Autor:
Adam C. O’Neill, Christina Kyrousi, Melanie Einsiedler, Ingo Burtscher, Micha Drukker, David M. Markie, Edwin P. Kirk, Magdalena Götz, Stephen P. Robertson, Silvia Cappello
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Disorders of neuronal mispositioning during brain development are phenotypically heterogeneous and their genetic causes remain largely unknown. Here, we report biallelic variants in a Hippo signaling factor—MOB2—in a patient with one such disorde
Externí odkaz:
https://doaj.org/article/55a80b0d7f3942dc8de72836ea5c1499
Publikováno v:
European Journal of Human Genetics. 31:548-554
Genes associated with non-syndromic hearing loss (NSHL) are frequently included in panels for reproductive genetic carrier screening (RGCS), despite a lack of consensus on whether NSHL is a condition appropriate for inclusion in RGCS. We conducted a
Publikováno v:
Prenatal Diagnosis. 42:1658-1666
OBJECTIVE: Reproductive genetic carrier screening (RGCS) panels often include genes associated with non-syndromic hearing loss (NSHL) despite a lack of evidence of acceptability. Although some couples take steps to avoid having a child who is deaf, t
Publikováno v:
Genetics in Medicine. 24:1803-1813
Genes associated with nonsyndromic hearing loss are commonly included in reproductive carrier screening panels, which are now routinely offered in preconception and prenatal care in many countries. However, there is debate whether hearing loss should
Autor:
D’Silva, Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1403
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling o
Autor:
Gary F. Sholler, Sally L. Dunwoodie, Edwin P. Kirk, Annabelle Enriquez, Jonathan Mervis, Gillian M. Blue, David S. Winlaw, Janine Smith, Ansley M. Morrish
Publikováno v:
Trends in Cardiovascular Medicine. 32:311-319
Genetic and genomic testing in pediatric CHD is becoming increasingly routine, and can have important psychosocial, clinical and reproductive implications. In this paper we highlight important challenges and considerations when providing genetics con
Autor:
Sarah Righetti, Lisa Dive, Alison D. Archibald, Lucinda Freeman, Belinda McClaren, Anaita Kanga-Parabia, Martin B. Delatycki, Nigel G. Laing, Edwin P. Kirk, Ainsley J. Newson, Kristine Barlow-Stewart, Stephanie Best, Kirsten Boggs, Camron Ebzery, Samantha Edwards, Zoe Fehlberg, Lara Fitzgerald, Jane Halliday, Katrina Harrison, Jillian Kennedy, Janet Long, John Massie, Erin Tutty, Richard Allcock, Jade Caruana, Rachael Casella, Mark Davis, Tristan Hardy, Sarah Jelenich, Sebastian Lunke, Julie McGaughran, Gina Ravenscroft
Publikováno v:
Genetics in Medicine. 24:1158-1161