Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Monika K, Grudzinska Pechhacker"'
Autor:
Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, Håkan Thonberg, Laurence Querat, Ulrika Birkeldh, Ann Nordgren, Anna Lindstrand
Publikováno v:
Ophthalmic Genetics. :1-8
The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Løken syndrome. Detailed exams are warranted to o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf0c54ab7ce0970246e4337d936eadd6
https://doi.org/10.1080/13816810.2023.2215332
https://doi.org/10.1080/13816810.2023.2215332
Autor:
Anna Dvaladze, Erika Tavares, Matteo Di Scipio, Graeme Nimmo, Monika K. Grudzinska‐Pechhacker, Tara Paton, Anupreet Tumber, Shuning Li, Christabel Eileen, Birgit Ertl‐Wagner, Eva Mamak, Georg Hoffmann, Christian R. Marshall, Dorothea Haas, Ertan Mayatepek, Andreas Schulze, Elise Heon, Ajoy Vincent
Publikováno v:
Clinical geneticsREFERENCES. 102(6)
Non-syndromic retinitis pigmentosa (NSRP) is a clinically and genetically heterogeneous group of disorders characterized by progressive degeneration of the rod and cone photoreceptors, often leading to blindness. The evolving association of syndromic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a37034bdaa16050594f895c70ba0166
https://pubmed.ncbi.nlm.nih.gov/35916082
https://pubmed.ncbi.nlm.nih.gov/35916082
Autor:
Erika Tavares, Monika K Grudzinska Pechhacker, Nicole M. Roslin, Anjali Vig, Ajoy Vincent, Elise Héon, Matteo Di Scipio, Anupreet Tumber
Publikováno v:
Ophthalmic Genetics. 41:457-464
S-adenosylhomocysteine hydrolase deficiency due to pathologic variants in AHCY gene is a rare neurometabolic disease for which no eye phenotype has been documented. Pathologic variants in CRB1 gene...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21531d9cc53234eacfcca433831b9d2d
https://doi.org/10.1080/13816810.2020.1790013
https://doi.org/10.1080/13816810.2020.1790013
Autor:
Tomas S. Aleman, Patrizia Amati-Bonneau, Benoît Arveiler, Jane L. Ashworth, Isabelle Audo, Giacomo M. Bacci, Nicole Balducci, Irina Balikova, Miriam Bauwens, Piero Barboni, Johannes Birtel, Susmito Biswas, Graeme C.M. Black, Catherine Blanchet, Béatrice Bocquet, Camiel J.F. Boon, Antoine Brézin, Cyril Burin des Roziers, Emma Burkitt-Wright, Michele Callea, Michele Carbonelli, Valerio Carelli, Jasmina Cehajic-Kapetanovic, Kate E. Chandler, Aman Chandra, Jill Clayton-Smith, Johanna M. Colijn, Frauke Coppieters, Catherine A. Cukras, Avril Daly, Elfride De Baere, Julie De Zaeytijd, Arundhati Dev Borman, Hélène Dollfus, Sofia Douzgou Houge, Elizabeth C. Engle, Pascal Escher, D. Gareth Evans, Kristina Teär Fahnehjelm, Christina Fasser, Mathieu Fiore, Kaoru Fujinami, Yu Fujinami-Yokokawa, Brenda L. Gallie, Michalis Georgiou, Martin Gliem, Monika K. Grudzinska Pechhacker, Georgina Hall, Wolf M. Harmening, Robert H. Henderson, Elise Héon, Nashila Hirji, Frank G. Holz, Laryssa A. Huryn, Elizabeth A. Jones, Vasiliki Kalatzis, Arif O. Khan, Ungsoo S. Kim, Caroline C.W. Klaver, Neruban Kumaran, Chiara La Morgia, Fiona Lalloo, Eulalie Lasseaux, Helena Lee, Guy Lenaers, Eva Lenassi, Bart P. Leroy, Petra Liskova, I. Christopher Lloyd, Robert E. MacLaren, Omar A. Mahroo, Alvaro J. Mejia-Vergara, Isabelle Meunier, Michel Michaelides, Anthony T. Moore, Mariya Moosajee, Fanny Morice-Picard, Francis L. Munier, Magella M. Neveu, Erin C. O'Neil, Anna Nordenström, Neil R.A. Parry, Maria I. Patrício, Manoj V. Parulekar, Dipak Ram, Simon C. Ramsden, Johane Robitaille, Anthony G. Robson, Pierre-Raphaël Rothschild, Alfredo A. Sadun, Kaspar Schuerch, Miguel C. Seabra, Jay E. Self, Panagiotis I. Sergouniotis, Fadi Shaya, Paul A. Sieving, Ine Strubbe, Francesca Simonelli, Kent W. Small, Martin P. Snead, Karolina M. Stepien, Mays Talib, Rachel L. Taylor, Francesco Testa, Alberta A.H.J. Thiadens, Elias I. Traboulsi, Viet H. Tran, Veronika Vaclavik, Sophie Valleix, Caroline Van Cauwenbergh, Kristof Van Schil, Mary C. Whitman, Colin E. Willoughby, Kanmin Xue, Jingyan Yang, Patrick Yu-Wai-Man, Christina Zeitz, Martin Zinkernagel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::443fea97f8aa209eb7749fe6b0bb2a99
https://doi.org/10.1016/b978-0-12-813944-8.09991-1
https://doi.org/10.1016/b978-0-12-813944-8.09991-1
Autor:
Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, Arlene V. Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L. Vincent, Tomas S. Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P. Leroy, Jason T. Maynes, Francis L. Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon
Publikováno v:
Investigative Ophthalmology and Visual Science, vol 62, iss 15
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Investigative Ophthalmology & Visual Science
Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Investigative Ophthalmology & Visual Science
Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26
PURPOSE. The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10. METHODS. Patients were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3812f62ba93f17ebe71aafaf621e64e9
https://escholarship.org/uc/item/4f15j5sp
https://escholarship.org/uc/item/4f15j5sp
Autor:
Kate E Leahy, Christina Zeitz, Ajoy Vincent, Jeff Locke, Heather MacDonald, Monika K Grudzinska Pechhacker, Tom Wright, Erika Tavares, Cynthia VandenHoven, Elise Héon, Anupreet Tumber, J. Raymond Buncic, Isabelle Audo
Publikováno v:
Genes
Genes, MDPI, 2021, 12 (3), pp.330. ⟨10.3390/genes12030330⟩
Genes, 2021, 12 (3), pp.330. ⟨10.3390/genes12030330⟩
Volume 12
Issue 3
Web of Science
Genes, Vol 12, Iss 330, p 330 (2021)
Genes, MDPI, 2021, 12 (3), pp.330. ⟨10.3390/genes12030330⟩
Genes, 2021, 12 (3), pp.330. ⟨10.3390/genes12030330⟩
Volume 12
Issue 3
Web of Science
Genes, Vol 12, Iss 330, p 330 (2021)
Hemizygous pathogenic variants in CACNA1F lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115aa4f0b6cab739a7bc48e92ab075a1
https://hal.sorbonne-universite.fr/hal-03163606
https://hal.sorbonne-universite.fr/hal-03163606
Autor:
Kate E, Leahy, Tom, Wright, Monika K, Grudzinska Pechhacker, Isabelle, Audo, Anupreet, Tumber, Erika, Tavares, Heather, MacDonald, Jeff, Locke, Cynthia, VandenHoven, Christina, Zeitz, Elise, Heon, J Raymond, Buncic, Ajoy, Vincent
Publikováno v:
Genes
Hemizygous pathogenic variants in CACNA1F lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6be5a8be0250b0804aefa339da062885
https://pubmed.ncbi.nlm.nih.gov/33668843
https://pubmed.ncbi.nlm.nih.gov/33668843
Autor:
Erika Tavares, Lili-Naz Hazrati, Monika K Grudzinska Pechhacker, Grace Yoon, Heather MacDonald, Elise Héon, Jason T. Maynes, Ajoy Vincent
Publikováno v:
European Journal of Medical Genetics. 63:104037
FLVCR1 encodes for a transmembrane heme exporter protein and it is known to cause a rare form of syndromic retinitis pigmentosa: posterior column ataxia with retinitis pigmentosa. Recently, the FLVCR1-associated phenotype has been expanded with spora
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6543f6f4688307e671b0e6d97dc619ce
https://doi.org/10.1016/j.ejmg.2020.104037
https://doi.org/10.1016/j.ejmg.2020.104037