Zobrazeno 1 - 10 of 67 pro vyhledávání: '"Nicola K Ragge"'
1
Akademický článek
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development
Autor: Fabiola Ceroni, Munevver B. Cicekdal, Richard Holt, Elena Sorokina, Nicolas Chassaing, Samuel Clokie, Thomas Naert, Lidiya V. Talbot, Sanaa Muheisen, Dorine A. Bax, Yesim Kesim, Emma C. Kivuva, Catherine Vincent-Delorme, Soeren S. Lienkamp, Julie Plaisancié, Elfride De Baere, Patrick Calvas, Kris Vleminckx, Elena V. Semina, Nicola K. Ragge
Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contrib
Externí odkaz: https://doaj.org/article/a6ddadf378cc4b2281c14bfc3acf06de
Zobrazit plný text záznamu
3
Expanding the phenotype of ASXL3 ‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
Autor: Katherine Bergstrom, Nichola Foulds, Yue Si, Anne Slavotinek, John Dean, Evan Reid, Ruth Armstrong, Charlotte W. Ockeloen, Richard Fisher, Maria J. Guillen Sacoto, Dayna Morel, Fowzan S. Alkuraya, Costa Cinzia, Thomas D. Challman, Samantha A. Schrier Vergano, Francisca Milan Zamora, Naomi Meeks, John Pappas, Katheryn Grand, Abhijit Dixit, Julie S. Cohen, Ddd Study, Marjolein H. Willemsen, Serwet Demirdas, Rachel Harrison, Usha Kini, Bertrand Isidor, Patricia Blanchet, Emily Palen, Arjan Bouman, Jagdeep S. Walia, Ruth Newbury-Ecob, Rachel Rabin, Shadi Albaba, Diana Johnson, Paolo Prontera, Paula Girotto, Ange-Line Bruel, Meena Balasubramanian, Nicola K. Ragge, Schaida Schirwani, Deborah L. Renaud, Christopher Cunniff, John M. Graham, Natalie Dykzeul, Swati Naik, Valerie Slegesky, Hessa F Albassam, Maria Giovanna Tedesco, Sally Ann Lynch, Julie Vogt, Natalie Hauser, Dong Li, Deanna Alexis Carere, Benjamin Cogné
Publikováno v: American Journal of Medical Genetics Part A. 185:3446-3458
The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b74d3b97d70d41828d697cc1cbcc3cfd
https://doi.org/10.1002/ajmg.a.62465
Zobrazit plný text záznamu
4
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
Autor: Fabiola, Ceroni, Daniel, Osborne, Samuel, Clokie, Dorine A, Bax, Emma J, Cassidy, Matt J, Dunn, Christopher M, Harris, Jay E, Self, Nicola K, Ragge
Publikováno v: European journal of human genetics : EJHG.
Nystagmus (involuntary, rhythmical eye movements) can arise due to sensory eye defects, in association with neurological disorders or as an isolated condition. We identified a family with early onset nystagmus and additional neurological features car
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::407291f32e1488a2191f05b942c3002a
https://pubmed.ncbi.nlm.nih.gov/36207621
Zobrazit plný text záznamu
5
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis
Autor: Ana Arteche, Olivier Roche, Marta Corton, Christian Gilissen, Felix Frémont, Patrick Calvas, Adele Schneider, Nicola K. Ragge, Pierre Bitoun, Carmen Ayuso, Dimitra Zafeiropoulou, Julie Plaisancié, Anne Slavotinek, Celia Zazo-Seco, Nicolas Chassaing
Publikováno v: Journal of Human Genetics, 65, 5, pp. 487-491
Journal of Human Genetics, 65, 487-491
Contains fulltext : 220455.pdf (Publisher’s version ) (Closed access) Microphthalmia, anophthalmia, and anterior segment dysgenesis are severe ocular developmental defects. There is a wide genetic heterogeneity leading to these ocular malformations
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6959c4dba548fa29acf679c007b9445f
https://doi.org/10.1038/s10038-020-0726-x
Zobrazit plný text záznamu
8
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Autor: Bertrand Isidor, Ruth Armstrong, Thabo M. Yates, Susan M. White, Ruth Richardson, Solveig Heide, Katherine B. Burke, Tjitske Kleefstra, Marie Vincent, Meena Balasubramanian, Maria Irene Valenzuela Palafoll, Sébastien Küry, Rolph Pfundt, Ruth Newbury-Ecob, Sahar Mansour, Wendy K. Chung, Caroline Nava, Sofia Douzgou, Erika Leenders, Annachiara De Sandre-Giovannoli, Saba Sharif, Andrew E. Fry, Helen Stewart, Nicola K. Ragge, Alexander J. M. Dingemans, Pradeep C. Vasudevan, Alison Foster, Sahar Elouej, Shadi Albaba, François-Guillaume Debray, Boris Keren, Serwet Demirdas, Francis H. Sansbury, Thomas Scheffner, Arie van Haeringen, Alice S. Brooks, Meyke Schouten, Helen Cox, Kate Wilson
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29(4), 625-636. Nature Publishing Group
Scientia
European Journal of Human Genetics, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29, 4, pp. 625-636
European Journal of Human Genetics, 29, 625-636
European Journal of Human Genetics, 29(4), 625-636. SPRINGERNATURE
Trastornos del espectro autista; Prueba genética Trastorns de l'espectre autista; Prova genètica Autism spectrum disorders; Genetic testing Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211d719da101010371b73dc1427c5fd2
https://hal.sorbonne-universite.fr/hal-03113281
Zobrazit plný text záznamu
9
Identification of PITX3 mutations in individuals with various ocular developmental defects
Autor: Caroline Michot, Julie Plaisancié, Marta Corton, Edouard Cottereau, Julian Delanne, Nicolas Chassaing, Nicola K. Ragge, Jacmine Pechmeja, Celia Zazo Seco, P Calvas, Tatiana Lupasco, Carmen Ayuso
Publikováno v: Ophthalmic Genetics
Ophthalmic Genetics, Taylor & Francis, 2018, 39 (3), pp.314-320. ⟨10.1080/13816810.2018.1430243⟩
Ophthalmic Genetics, 2018, 39 (3), pp.314-320. ⟨10.1080/13816810.2018.1430243⟩
Background: Congenital cataract displays large phenotypic (syndromic and isolated cataracts) and genetic heterogeneity. Mutations in several transcription factors involved in eye development, like PITX3, have been associated with congenital cataracts
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b2f8c95d544a4df8f885a3915e4edb
Zobrazit plný text záznamu
10
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Autor: Charu Deshpande, Joke B. G. M. Verheij, H Van Bokhoven, Siddharth Banka, J. S. Klein Wassink-Ruiter, Elizabeth J. Bhoj, S. C. Huffels, R. Pfundt, Ernie M.H.F. Bongers, Anne Gregor, A.P.M. de Brouwer, André Reis, Christiane Zweier, Hakon Hakonarson, Nicola K. Ragge, L. Gompertz, Dong Li, Sanmati Cuddapah, Alexander P.A. Stegmann, Sally Ann Lynch, A.T. Vulto-van Silfhout, Willie Reardon, Gyri Aasland Gradek, Daniel L. Polla, Kate Chandler, C. T. R. M. Stumpel, B. B. A. de Vries, R. Wennekes, Elaine H. Zackai, Siren Berland, Erika Leenders, K. Hill-Karfe
Publikováno v: Genetics in Medicine, 23, 4, pp. 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Contains fulltext : 234992.pdf (Publisher’s version ) (Closed access) PURPOSE: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differenti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3096973d0dab91ba75f31747c1525309
https://repository.ubn.ru.nl/handle/2066/234992
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje