Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Catherina H. Z. Li"'
Autor:
Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin
Publikováno v:
Cells, Vol 13, Iss 7, p 601 (2024)
Precision medicine is rapidly gaining recognition in the field of (ultra)rare conditions, where only a few individuals in the world are affected. Clinical trial design for a small number of patients is extremely challenging, and for this reason, the
Externí odkaz:
https://doaj.org/article/78195cd5174e462d99f4bd1b2718bd4e
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Autor:
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis
Externí odkaz:
https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb
Autor:
Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP). However, this is in contrast with the description of two asymptomatic individuals homoz
Externí odkaz:
https://doaj.org/article/6094fbd31fc64081a2b2723bd0ebe783
Autor:
Hedwig M. Velde, Janine Reurink, Sebastian Held, Catherina H. Z. Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer-Wigman, Helger G. Yntema, Susanne Roosing, Laurenz Pauleikhoff, Clemens Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J. Keegan, G. Jane Farrar, Hannie Kremer, Cornelis P. Lanting, Markus Damme, Ronald J. E. Pennings
Publikováno v:
Human Genetics, 141, 11, pp. 1723-1738
Human Genetics, 141, 1723-1738
Human Genetics, 141, 1723-1738
Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cf4ad4fff1a689f51e7f408ecfb9b4
https://repository.ubn.ru.nl/handle/2066/287277
https://repository.ubn.ru.nl/handle/2066/287277
Autor:
Jordi Corominas, Laura Whelan, Gwyneth Jane Farrar, Frans P.M. Cremers, Catherina H Z Li, Paul F. Kenna, Susanne Roosing, Carel B. Hoyng, Adrian Dockery, Roly Megaw, Charlie Rowlands, Zeinab Fadaie, L. Ingeborgh van den Born, Christian Gilissen, Jamie M Ellingford, AK Lampe
Publikováno v:
Journal of Medical Genetics, 59, 438-444
Journal of Medical Genetics, 59, 5, pp. 438-444
Journal of Medical Genetics, 59, 5, pp. 438-444
BackgroundInherited retinal diseases (IRDs) can be caused by variants in >270 genes. The Bardet-Biedl syndrome 1 (BBS1) gene is one of these genes and may be associated with syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbe0c9a9179a55b8e5062f89977d11a
http://hdl.handle.net/2066/251508
http://hdl.handle.net/2066/251508
Autor:
Carel B. Hoyng, Catherina H Z Li, Bart P. Leroy, Hind Almushattat, Michalis Georgiou, Elfride De Baere, Camiel J. F. Boon, Mary J. van Schooneveld, Ralph J. Florijn, Michel Michaelides, Ine Strubbe, Arthur A.B. Bergen, Xuan-Thanh-An Nguyen, Inge Joniau
Publikováno v:
Genes, 12(9):1404. Multidisciplinary Digital Publishing Institute (MDPI)
Genes, Vol 12, Iss 1404, p 1404 (2021)
Genes
Volume 12
Issue 9
Genes, 12, 9
Genes, 12(9). MDPI
Genes, 12
GENES
Genes, Vol 12, Iss 1404, p 1404 (2021)
Genes
Volume 12
Issue 9
Genes, 12, 9
Genes, 12(9). MDPI
Genes, 12
GENES
This study investigated the phenotypic spectrum of PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and early-onset cataract) syndrome caused by biallelic variants in the ABHD12 gene. A total of 15 patients from 12 different families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48f2c0c0789a27f62d4e5773e792c9e6
https://pure.amc.nl/en/publications/the-phenotypic-spectrum-of-patients-with-pharc-syndrome-due-to-variants-in-abhd12-an-ophthalmic-perspective(e974398a-195f-4a6c-872b-ecd8778be882).html
https://pure.amc.nl/en/publications/the-phenotypic-spectrum-of-patients-with-pharc-syndrome-due-to-variants-in-abhd12-an-ophthalmic-perspective(e974398a-195f-4a6c-872b-ecd8778be882).html
Autor:
Xuan-Thanh-An, Nguyen, Hind, Almushattat, Ine, Strubbe, Michalis, Georgiou, Catherina H Z, Li, Mary J, van Schooneveld, Inge, Joniau, Elfride, De Baere, Ralph J, Florijn, Arthur A, Bergen, Carel B, Hoyng, Michel, Michaelides, Bart P, Leroy, Camiel J F, Boon
Publikováno v:
Genes
This study investigated the phenotypic spectrum of PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and early-onset cataract) syndrome caused by biallelic variants in the ABHD12 gene. A total of 15 patients from 12 different families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::91ee21bc09d9e427a8d455e4438d402c
https://pubmed.ncbi.nlm.nih.gov/34573385
https://pubmed.ncbi.nlm.nih.gov/34573385
Autor:
Renate G. van der Molen, Carel B. Hoyng, Patty P.A. Dhooge, Esmee H. Runhart, Catherina H Z Li, Corrie M de Kat Angelino, Anneke I. den Hollander
Publikováno v:
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253716 (2021)
PLoS ONE, Vol 16, Iss 6, p e0253716 (2021)
Purpose Preclinical research provides evidence for the complement system as a potential common pathway in Stargardt disease (STGD1) and age-related macular degeneration (AMD) leading to retinal pigment epithelium (RPE) loss. However, systemic complem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a9e429092819f7336f7423352f97aa
https://pubmed.ncbi.nlm.nih.gov/34170959
https://pubmed.ncbi.nlm.nih.gov/34170959
Autor:
Patty P A Dhooge, Esmee H Runhart, Catherina H Z Li, Corrie M de Kat Angelino, Carel B Hoyng, Renate G van der Molen, Anneke I den Hollander
Publikováno v:
PLoS ONE, Vol 16, Iss 6, p e0253716 (2021)
PurposePreclinical research provides evidence for the complement system as a potential common pathway in Stargardt disease (STGD1) and age-related macular degeneration (AMD) leading to retinal pigment epithelium (RPE) loss. However, systemic compleme
Externí odkaz:
https://doaj.org/article/250ba005364d4e1da67bbeaf7cbb86e0