Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Sarah Naessens"'
Autor:
Bernd Wissinger, Thomy de Ravel de l'Argentière, Frans P.M. Cremers, Jim Bauwens, Bart P. Leroy, Riccardo Sangermano, Caroline Van Cauwenbergh, Julie De Zaeytijd, Ana Fakin, Sarah De Jaegere, Toon Rosseel, Mubeen Khan, Gavin Arno, Susanne Kohl, Andrew R. Webster, Meindert De Vries, Elfride De Baere, Rob W.J. Collin, Alejandro Garanto, Irina Balikova, Keren J. Carss, Thalia Van Laethem, Miriam Bauwens, Kim De Leeneer, Marnik Vuylsteke, Sarah Naessens, Yves Sznajer, Timothy J. Cherry, Françoise Sadler, Nicole Weisschuh
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 21, 1761-1771
Genetics in Medicine, Vol. 21, no.8, p. 1761-1771 (2019)
GENETICS IN MEDICINE
Genetics in Medicine, 21, 8, pp. 1761-1771
Genetics in Medicine, 21, 1761-1771
Genetics in Medicine, Vol. 21, no.8, p. 1761-1771 (2019)
GENETICS IN MEDICINE
Genetics in Medicine, 21, 8, pp. 1761-1771
PURPOSE: ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing heritability. METHODS: By locus-specific analysis of ABCA4, combined with
Autor:
Gavin Arno, Bernhard H. F. Weber, Carel B. Hoyng, L. Ingeborgh van den Born, Nathalie M. Bax, Silvia Albert, Frans P.M. Cremers, Keren J. Carss, Stéphanie S. Cornelis, Felix Grassmann, Caroline C W Klaver, F. Lucy Raymond, Mubeen Khan, Ana Fakin, Andrew R. Webster, Muhammad Imran Khan, Claire Marie Dhaenens, Riccardo Sangermano, Elfride De Baere, Sarah Naessens, Heidi Stöhr, Rob W.J. Collin, Alberta A H J Thiadens, Jan Willem R. Pott, Esmee H. Runhart, Miriam Bauwens, Bernard Puech, Isabelle Meunier, Joke B. G. M. Verheij, Alejandro Garanto
Publikováno v:
Genetics in Medicine, 21(8), 1751-1760. Nature Publishing Group
Genetics in Medicine, 21(8), 1751-1760. Lippincott Williams & Wilkins
Genetics in Medicine
GENETICS IN MEDICINE
Genetics in Medicine, 21(8), 1751-1760. Lippincott Williams & Wilkins
Genetics in Medicine
GENETICS IN MEDICINE
Purpose: Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive Stargardt disease (STGD1) as a model to identify the missing heritability.Methods: Sequencin
Autor:
Julie De Zaeytijd, Delfien Syx, Frauke Coppieters, Frank Peelman, Roosmarijn E. Vandenbroucke, Sarah Naessens, Bart P. Leroy, Frédéric Smeets, Caroline Van Cauwenbergh
Publikováno v:
HUMAN MUTATION
Human Mutation
Human Mutation
Sorsby fundus dystrophy (SFD) is a macular degeneration caused by mutations in TIMP3, the majority of which introduce a novel cysteine. However, the exact molecular mechanisms underlying SFD remain unknown. We aimed to provide novel insights into the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fcf7c9f947868d800b21cbfc701f438
https://biblio.ugent.be/publication/8600108/file/8618107
https://biblio.ugent.be/publication/8600108/file/8618107
Autor:
Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja K. Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Michael E. Greenberg, Marty G. Yang, Marcus Karlstetter, Thomas Langmann, Katleen De Preter, Susanne Kohl, Timothy J. Cherry, Bart P. Leroy, James R. Lupski, Claudia Carvalho, Max van Min, Petra Klous, Sarah De Jaegere, Sally Hooghe, Elfride De Baere
Publikováno v:
GENETICS IN MEDICINE
Genetics in Medicine
Genetics in Medicine
Purpose: Part of the hidden genetic variation in heterogeneous genetic conditions such as inherited retinal diseases (IRDs) can be explained by copy-number variations (CNVs). Here, we explored the genomic landscape of IRD genes listed in RetNet to id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9afc86b76ee1eb917ae11e695592fc3
https://biblio.ugent.be/publication/8529931
https://biblio.ugent.be/publication/8529931
Autor:
Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja K. Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Michael E. Greenberg, Marty G. Yang, Marcus Karlstetter, Thomas Langmann, Katleen De Preter, Susanne Kohl, Timothy J. Cherry, Bart P. Leroy, Elfride De Baere, James R Lupski, Claudia Carvalho, Max van Min, Petra Klous, Sarah De Jaegere, Sally Hooghe
Publikováno v:
Genetics in Medicine
PurposePart of the hidden genetic variation in heterogeneous genetic conditions such as inherited retinal diseases (IRDs) can be explained by copy-number variations (CNVs). Here, we explored the genomic landscape of IRD genes listed in RetNet to iden
Publikováno v:
GENES
Genes
Volume 10
Issue 5
Genes, Vol 10, Iss 5, p 363 (2019)
Genes
Volume 10
Issue 5
Genes, Vol 10, Iss 5, p 363 (2019)
The recurrent missense variant in Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3), c.166G>
A, p.(Gly56Arg) or G56R, underlies 1%&ndash
2% of cases with autosomal dominant retinitis pigmentosa (adRP), a frequent, genetically heteroge
A, p.(Gly56Arg) or G56R, underlies 1%&ndash
2% of cases with autosomal dominant retinitis pigmentosa (adRP), a frequent, genetically heteroge