Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Victoria C. O'Reilly"'
Autor:
Matthew S. Edwards, David S. Winlaw, Dimuthu Alankarage, Kavitha R Iyer, Bernadette C Hanna, Steven Monger, Gavin Chapman, Victoria C. O'Reilly, Justin O. Szot, Michelle Yam, Annabelle Enriquez, Julie L. M. Moreau, Ella M M A Martin, Sally L. Dunwoodie, Duncan B. Sparrow, Helen E. Ritchie, Joelene A Greasby, Eleni Giannoulatou, Hongjun Shi, Gillian M. Blue, Eddie I P, Stuart M. Grieve
Publikováno v:
Hum Mol Genet
Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality and morbidity. The application of exome and genome sequencing has greatly improved the rate of genetic diagnosis for CHD but the cause in the majo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f4aedb11c92ae713b9b813716d7b59
https://doi.org/10.1093/hmg/ddz270
https://doi.org/10.1093/hmg/ddz270
Autor:
Michelle Yam, Scott H. Kesteven, Ella M M A Martin, Sally L. Dunwoodie, Michael P. Feneley, Antonio Baldini, Duncan B. Sparrow, Anne M. Moon, Richard P. Harvey, Victoria C. O'Reilly, Gonzalo del Monte-Nieto, Kin S. Lau, Julie L. M. Moreau, Gavin Chapman
Publikováno v:
Development (Camb.) 146 (2019). doi:10.1242/dev.172957
info:cnr-pdr/source/autori:Moreau J.L.M.; Kesteven S.; Martin E.M.M.A.; Lau K.S.; Yam M.X.; O'reilly V.C.; Del Monte-Nieto G.; Baldini A.; Feneley M.P.; Moon A.M.; Harvey R.P.; Sparrow D.B.; Chapman G.; Dunwoodie S.L./titolo:Gene-environment interaction impacts on heart development and embryo survival/doi:10.1242%2Fdev.172957/rivista:Development (Camb.)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:146
info:cnr-pdr/source/autori:Moreau J.L.M.; Kesteven S.; Martin E.M.M.A.; Lau K.S.; Yam M.X.; O'reilly V.C.; Del Monte-Nieto G.; Baldini A.; Feneley M.P.; Moon A.M.; Harvey R.P.; Sparrow D.B.; Chapman G.; Dunwoodie S.L./titolo:Gene-environment interaction impacts on heart development and embryo survival/doi:10.1242%2Fdev.172957/rivista:Development (Camb.)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:146
Congenital heart disease (CHD) is the most common type of birth defect. In recent years, research has focussed on identifying the genetic causes of CHD. However, only a minority of CHD cases can be attributed to single gene mutations. In addition, st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab6a3e91bdd05e8df98f2778b2ad7b2
https://pubmed.ncbi.nlm.nih.gov/30787001
https://pubmed.ncbi.nlm.nih.gov/30787001
Autor:
Sally L. Dunwoodie, Stuart M. Grieve, Gavin Chapman, Roland Stocker, Robert M. Graham, Victoria C. O'Reilly, Duncan B. Sparrow, Michelle Yam, Hongjun Shi, Bogdan E. Chapman, Julie L. M. Moreau, Therese R. Bewes
Publikováno v:
Development. 143(14)
Congenital heart disease (CHD) is an enigma. It is the most common human birth defect and yet, even with the application of modern genetic and genomic technologies, only a minority of cases can be explained genetically. This is because environmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d94f01f8479fe7baac30c808ea12905
http://ora.ox.ac.uk/objects/uuid:adbb1b89-52e4-4d38-a971-6274742f59bb
http://ora.ox.ac.uk/objects/uuid:adbb1b89-52e4-4d38-a971-6274742f59bb
Autor:
Mhairi Marshall, Aideen M. McInerney-Leo, Brooke Gardiner, Duncan B. Sparrow, Victoria C. O'Reilly, Hongjun Shi, Sally L. Dunwoodie, Matthew A. Brown, Jessica Harris, Emma L. Duncan, Paul Leo, Andreas Zankl
Publikováno v:
Human molecular genetics. 24(5)
Segmentation defects of the vertebrae (SDV) are caused by aberrant somite formation during embryogenesis and result in irregular formation of the vertebrae and ribs. The Notch signal transduction pathway plays a critical role in somite formation and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e9daca0e81955da6dace976da439a9f
https://pubmed.ncbi.nlm.nih.gov/25343988
https://pubmed.ncbi.nlm.nih.gov/25343988
Autor:
J.A. Major, Gavin Chapman, Lesley M McGregor, Muhammad Z. Mattar, Allanceson J. Smith, Sally L. Dunwoodie, Kenro Kusumi, Yumiko Saga, John P. Dormans, Ryoichiro Kageyama, Victoria C. O'Reilly, Elaine H. Zackai, Benjamin A. Alman, Duncan B. Sparrow
Publikováno v:
Cell. 149(2)
SummaryCongenital scoliosis, a lateral curvature of the spine caused by vertebral defects, occurs in approximately 1 in 1,000 live births. Here we demonstrate that haploinsufficiency of Notch signaling pathway genes in humans can cause this congenita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c320fa788bc77a12c87ba4fc9a99bafa
https://pubmed.ncbi.nlm.nih.gov/22500793
https://pubmed.ncbi.nlm.nih.gov/22500793