Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Charalambos Demetriou"'
Autor:
Marian Seda, Emma Peskett, Charalambos Demetriou, Dale Bryant, Gudrun E. Moore, Philip Stanier, Dagan Jenkins
Publikováno v:
F1000Research, Vol 8 (2019)
Background: Lenz-Majewski syndrome (LMS) is characterized by osteosclerosis and hyperostosis of skull, vertebrae and tubular bones as well as craniofacial, dental, cutaneous, and digit abnormalities. We previously found that LMS is caused by de novo
Externí odkaz:
https://doaj.org/article/2d1570a72ef94824a92718502fe28cf3
Autor:
Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio del Valle, Nita Solanky, Charalambos Demetriou, Lesley Regan, Gudrun E. Moore, John C. Achermann
Publikováno v:
F1000Research, Vol 8 (2019)
Background: Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a key negative regulator of cell growth encoded by a paternally imprinted/maternally expressed gene in humans. Loss-of-function variants in CDKN1C are associated with an overgrowth conditio
Externí odkaz:
https://doaj.org/article/743bdf2ea6ee423d8db9bf96dd9fd3e8
Autor:
Charalambos Demetriou, Sayeda Abu-Amero, Anna C Thomas, Miho Ishida, Reena Aggarwal, Lara Al-Olabi, Lydia J Leon, Jaime L Stafford, Argyro Syngelaki, Donald Peebles, Kypros H Nicolaides, Lesley Regan, Philip Stanier, Gudrun E Moore
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e85454 (2014)
CONTEXT:Fetal growth involves highly complex molecular pathways. IGF2 is a key paternally expressed growth hormone that is critical for in utero growth in mice. Its role in human fetal growth has remained ambiguous, as it has only been studied in ter
Externí odkaz:
https://doaj.org/article/08749f3843fc44aa87d216e6ca42c13d
Autor:
Satyamaanasa Polubothu, Nicole Bender, Siobhan Muthiah, Davide Zecchin, Charalambos Demetriou, Sara Barberan Martin, Sony Malhotra, Jana Travnickova, Zhiqiang Zeng, Markus Böhm, Sebastien Barbarot, Catherine Cottrell, Olivia Davies, Eulalia Baselga, Nigel P. Burrows, Virginie Carmignac, Joey Santiago Diaz, Christine Fink, Holger A. Haenssle, Rudolf Happle, Mark Harland, Jacquelyn Majerowski, Pierre Vabres, Marie Vincent, Julia A. Newton-Bishop, D. Tim Bishop, Dawn Siegel, E. Elizabeth Patton, Maya Topf, Neil Rajan, Beth Drolet, Veronica A. Kinsler
Phakomatosis pigmentovascularis (PPV) is a diagnosis which denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement including central nervous system disease, asymmetrical growth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3d038bf38a83816c63d122330350c11
Autor:
Maria Derakhshan, Noah J Kessler, Miho Ishida, Charalambos Demetriou, Nicolas Brucato, Gudrun E Moore, Caroline H D Fall, Giriraj R Chandak, Francois-Xavier Ricaut, Andrew M Prentice, Garrett Hellenthal, Matt J Silver
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research, 2022, 50 (12), pp.6735-6752. ⟨10.1093/nar/gkac503⟩
Nucleic Acids Research, 2022, 50 (12), pp.6735-6752. ⟨10.1093/nar/gkac503⟩
We analysed DNA methylation data from 30 datasets comprising 3474 individuals, 19 tissues and 8 ethnicities at CpGs covered by the Illumina450K array. We identified 4143 hypervariable CpGs (‘hvCpGs’) with methylation in the top 5% most variable s
Autor:
Miho Ishida, Philip Stanier, Daniyal J. Jafree, Emma Peskett, Claire Walsh, Jason Rihel, Cristina Alemán-Charlet, Kaitlyn M. Eckert, Sanchari Datta, Rimante Seselgyte, Thomas A. Hawkins, Marian Seda, Jeffrey G. McDonald, Hanaa Hariri, Lydia Teboul, Charalambos Demetriou, Gideon Pomeranz, Gudrun E. Moore, Letizia Vestito, Dale Bryant, W. Mike Henne, Maria Bitner-Glindzicz, Myriam Hemberger, Dagan Jenkins, Constance Maurer, Marcus Ghosh, James Cleak
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) in both humans and dogs. SCAR20 is understood to involve subcellular disruption to autophagy and lipid metabolism. Previously reported studies on the phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5088837813b63ac8b07f9923f25c772
http://hdl.handle.net/10044/1/90147
http://hdl.handle.net/10044/1/90147
Autor:
Joris A. M. van der Post, Charalambos Demetriou, Adi N Mul, Chela James, Faisal I. Rezwan, Emma Peskett, Susanne E Stalman, Frans B. Plötz, Nicole A Nibbering, Miho Ishida, Lia Knegt, Jan M. Wit, Carrie Ris-Stalpers, Lucas Alvizi, Cristina Alemán-Charlet, Marcel M.A.M. Mannens, Peter Henneman, Gudrun E. Moore, W. Baird, Philip Stanier, Nita Solanky, Sayeda Abu-Amero, Marielle Alders, Lydia J. Leon, Gerdine A Kamp, Raoul C.M. Hennekam
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 103(3), 917-925
Journal of Clinical Endocrinology and Metabolism
Journal of clinical endocrinology and metabolism, 103(3), 917-925. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism
Journal of clinical endocrinology and metabolism, 103(3), 917-925. The Endocrine Society
Context Small for gestational age (SGA) can be the result of fetal growth restriction, which is associated with perinatal morbidity and mortality. Mechanisms that control prenatal growth are poorly understood. Objective The aim of the current study w
Autor:
Anna C. Thomas, Estelle Chanudet, Lesley Regan, Agnel Praveen Joseph, Philip Stanier, Charalambos Demetriou, Maya Topf, Gudrun E. Moore, Maria Bitner-Glindzicz, GOSgene
Publikováno v:
Human molecular genetics. 28(20)
Recurrent pregnancy loss (RPL) is defined as two or more consecutive miscarriages and affects an estimated 1.5% of couples trying to conceive. RPL has been attributed to genetic, endocrine, immune and thrombophilic disorders, but many cases remain un
Autor:
N. Moreno, Melissa Lees, Miho Ishida, Debbie Sell, Emma Peskett, Rimante Seselgyte, Deborah Morrogh, Philip Stanier, Gudrun E. Moore, Charalambos Demetriou, Dale Bryant, Erwin Pauws, Martin Farrall, Brian C. Sommerlad
This study investigated the genetic basis of an unusual autosomal dominant phenotype characterized by familial absent uvula, with a short posterior border of the soft palate, abnormal tonsillar pillars, and velopharyngeal insufficiency. Cytogenetic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74cca4637eb8697b7e7111c11fe8da7c
https://europepmc.org/articles/PMC6535918/
https://europepmc.org/articles/PMC6535918/
Autor:
John C. Achermann, Ignacio del Valle, Miho Ishida, Jenifer P. Suntharalingham, Lesley Regan, Charalambos Demetriou, Gudrun E. Moore, Nita Solanky, Federica Buonocore
Publikováno v:
F1000Research
Background: Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a key negative regulator of cell growth encoded by a paternally imprinted/maternally expressed gene in humans. Loss-of-function variants in CDKN1C are associated with an overgrowth conditio