Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Elena Schiff"'
Autor:
Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin Arno
Publikováno v:
Cells, Vol 13, Iss 15, p 1261 (2024)
Biallelic variants in USH2A are associated with retinitis pigmentosa (RP) and Type 2 Usher Syndrome (USH2), leading to impaired vision and, additionally, hearing loss in the latter. Although the introduction of next-generation sequencing into clinica
Externí odkaz:
https://doaj.org/article/9f8300908b4346948f247decb549375c
Autor:
Paulina Ocieczek, Ngozi Oluonye, Cécile Méjécase, Elena Schiff, Vijay Tailor, Mariya Moosajee
Publikováno v:
Genes, Vol 15, Iss 6, p 699 (2024)
Myogenic transcription factors with a basic helix–loop–helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The MYF5 gene located on chromosome 12 encodes for myogenic factor 5 (MYF5), which has
Externí odkaz:
https://doaj.org/article/539b8bdb24544eb88bb927a33efd2b28
Publikováno v:
BMJ Open Ophthalmology, Vol 7, Iss 1 (2022)
Background Large databases permit quantitative description of genes in terms of intolerance to loss of function (‘haploinsufficiency’) and prevalence of missense variants. We explored these parameters in inherited retinal disease (IRD) genes.Meth
Externí odkaz:
https://doaj.org/article/c9d551ba46fb4deba843596f2f937d84
Autor:
Nancy Aychoua, Elena Schiff, Samantha Malka, Vijay K Tailor, Hwei Wuen Chan, Ngozi Oluonye, Maria Theodorou, Mariya Moosajee
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses a diagnostic challenge
Externí odkaz:
https://doaj.org/article/c85d27dc85ec4ad68ea38909953a43df
Autor:
Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly
Publikováno v:
PLoS Genetics, Vol 15, Iss 5, p e1008190 (2019)
[This corrects the article DOI: 10.1371/journal.pgen.1007329.].
Externí odkaz:
https://doaj.org/article/3ae352ebf0834370b7f64609330444d8
Autor:
Philippa Harding, Maria Toms, Elena Schiff, Nicholas Owen, Suzannah Bell, Ian Christopher Lloyd, Mariya Moosajee
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 2190 (2021)
EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic EPHA2 variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previ
Externí odkaz:
https://doaj.org/article/63dca7666c9d444a8e6b6dff49f473a9
Autor:
Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly
Publikováno v:
PLoS Genetics, Vol 14, Iss 5, p e1007329 (2018)
As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference f
Externí odkaz:
https://doaj.org/article/36415c854cfc4f458bf1a4f15bcfe6f2
Autor:
Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
Publikováno v:
Human molecular genetics, vol 32, iss 4
The purpose of this paper is to identify likely pathogenic non-coding variants in inherited retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were recruited to the study and underwent comprehensive ophthalmological evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eecf9b5f20e38556985a642ed4fc37b
https://escholarship.org/uc/item/4z14k3r2
https://escholarship.org/uc/item/4z14k3r2
Publikováno v:
BMJ Open Ophthalmology. 7:e001079
BackgroundLarge databases permit quantitative description of genes in terms of intolerance to loss of function (‘haploinsufficiency’) and prevalence of missense variants. We explored these parameters in inherited retinal disease (IRD) genes.Metho
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy
Autor:
Rola, Ba-Abbad, Anthony G, Robson, Omar A, Mahroo, Genevieve, Wright, Elena, Schiff, Emma S, Duignan, Michel, Michaelides, Gavin, Arno, Andrew R, Webster
Publikováno v:
Eye (Lond)
To describe the clinical and electrophysiological features of adult-onset macular dystrophy, due to novel combinations of CDHR1 alleles, and compare the associated phenotypes with previous reports.The clinical records of patients with macular dystrop