Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Theodora, Gale"'
Autor:
Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou, Graeme C. Black
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background Inherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically and genetically heterogeneous group of disorders that can have a major impact on vision. Sev
Externí odkaz:
https://doaj.org/article/2729b06421b1449e9a93f464605a0f3c
Autor:
Christos Iosifidis, Jingshu Liu, Theodora Gale, Jamie M. Ellingford, Christopher Campbell, Stuart Ingram, Kate Chandler, Neil R. A. Parry, Graeme C. Black, Panagiotis I. Sergouniotis
Publikováno v:
Acta Ophthalmologica. 100
Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders that present in childhood. Biallelic variants altering the protein-coding region of the TRPM1 gene are one of the commonest causes of CSNB. Here, we
Autor:
Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou, Graeme C. Black
Publikováno v:
Taylor, R L, Soriano, C S, Williams, S, Dzulova, D, Ashworth, J, Hall, G, Gale, T, Lloyd, I C, Inglehearn, C F, Toomes, C, Douzgou, S & Black, G 2022, ' Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia ', Orphanet Journal of Rare Diseases, vol. 17, 110 . https://doi.org/10.1186/s13023-022-02239-3
Background Inherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically and genetically heterogeneous group of disorders that can have a major impact on vision. Several gene
Autor:
Jamie M, Ellingford, Stephanie, Barton, Sanjeev, Bhaskar, James, O'Sullivan, Simon G, Williams, Janine A, Lamb, Binay, Panda, Panagiotis I, Sergouniotis, Rachel L, Gillespie, Stephen P, Daiger, Georgina, Hall, Theodora, Gale, I Christopher, Lloyd, Paul N, Bishop, Simon C, Ramsden, Graeme C M, Black
Publikováno v:
Journal of Medical Genetics
Background Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous set of disorders, for which diagnostic second-generation sequencing (next-generation sequencing, NGS) services have been developed worldwide. Methods We prese
Publikováno v:
The Journal of Pathology. 205:248-254
Molecular analysis of invasive breast cancer and its precursors has furthered our understanding of breast cancer progression. In the past few years, new multi-step pathways of breast cancer progression have been delineated through genotypic-phenotypi
Publikováno v:
Journal of genetic counseling. 19(1)
The explanation of Mendelian inheritance is a key component of most genetic counselling consultations, yet no evidence base exists for this area of practice. This qualitative study used Interpersonal Process Recall (IPR) to explore how information ab
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Comparative genomic hybridization (CGH) has been the technique of choice over the last 10 years for mapping DNA copy number changes in human tumors. Here we review the literature to demonstrate how CGH has contributed to the comprehension of molecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e644414554c86b9e1369850484e519f8
https://hdl.handle.net/1822/67922
https://hdl.handle.net/1822/67922
Publikováno v:
The Journal of pathology. 205(2)
Molecular analysis of invasive breast cancer and its precursors has furthered our understanding of breast cancer progression. In the past few years, new multi-step pathways of breast cancer progression have been delineated through genotypic-phenotypi
Autor:
Dawn Steele, Mario Budroni, Suzanne Parry, Sunil R. Lakhani, Chris Jones, Theodora Gale, Jorge S. Reis-Filho, Antonio Cossu, Peter T. Simpson, Giuseppe Palmieri
Publikováno v:
Journal of pathology
202 (2004): 274–285. doi:10.1002/path.1530
info:cnr-pdr/source/autori:Simpson, PT; Gale, T; Reis, JS; Jones, C; Parry, S; Steele, D; Cossu, A; Budroni, M; Palmieri, G; Lakhani, SR/titolo:Distribution and significance of 14-3-3 sigma, a novel myoepithelial marker, in normal, benign, and malignant breast tissue/doi:10.1002%2Fpath.1530/rivista:Journal of pathology (Print)/anno:2004/pagina_da:274/pagina_a:285/intervallo_pagine:274–285/volume:202
202 (2004): 274–285. doi:10.1002/path.1530
info:cnr-pdr/source/autori:Simpson, PT; Gale, T; Reis, JS; Jones, C; Parry, S; Steele, D; Cossu, A; Budroni, M; Palmieri, G; Lakhani, SR/titolo:Distribution and significance of 14-3-3 sigma, a novel myoepithelial marker, in normal, benign, and malignant breast tissue/doi:10.1002%2Fpath.1530/rivista:Journal of pathology (Print)/anno:2004/pagina_da:274/pagina_a:285/intervallo_pagine:274–285/volume:202
14-3-3sigma is a candidate tumour suppressor gene transactivated by p53 in response to DNA damage. In gene expression analysis of normal luminal and myoepithelial cells, 14-3-3sigma was preferentially expressed by myoepithelial cells. This study has
Publikováno v:
Breast Cancer Research : BCR
The term lobular neoplasia refers to a spectrum of lesions featuring atypical lobular hyperplasia and lobular carcinoma in situ (LCIS). The histopathological characteristics of these lesions are well documented. What is less well understood is the ma