Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Riccardo, Sangermano"'
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (I
Externí odkaz:
https://doaj.org/article/e208f44c488745faa67e41d6e10b7aa1
Autor:
Andrew J, Catomeris, Brian G, Ballios, Riccardo, Sangermano, Naomi E, Wagner, Jason I, Comander, Eric A, Pierce, Emily M, Place, Kinga M, Bujakowska, Rachel M, Huckfeldt
Publikováno v:
Ophthalmic Genet
BACKGROUND: Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenotype of macular atrophy and peripheral reticular degeneration. Here, we further evaluate the genotyp
Autor:
Andrew J. Catomeris, Brian G. Ballios, Riccardo Sangermano, Naomi E. Wagner, Jason I. Comander, Eric A. Pierce, Emily M. Place, Kinga M. Bujakowska, Rachel M. Huckfeldt
Publikováno v:
Ophthalmic Genetics. 43:332-339
Autor:
Mubeen Khan, Stéphanie S. Cornelis, Riccardo Sangermano, Iris J.M. Post, Amber Janssen Groesbeek, Jan Amsu, Christian Gilissen, Alejandro Garanto, Rob W.J. Collin, Frans P.M. Cremers
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 7, p 2300 (2020)
Noncanonical splice-site mutations are an important cause of inherited diseases. Based on in vitro and stem-cell-based studies, some splice-site variants show a stronger splice defect than expected based on their predicted effects, suggesting that ot
Externí odkaz:
https://doaj.org/article/280cab895a174371bac2b9055c18cf28
Autor:
Riccardo, Sangermano, Pooja, Biswas, Lori S, Sullivan, Emily M, Place, Shyamanga, Borooah, Juerg, Straubhaar, Eric A, Pierce, Stephen P, Daiger, Kinga M, Bujakowska, Radha, Ayaggari
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
Rachel M. Huckfeldt, Kinga M. Bujakowska, Mariana Neves, Erin Zampaglione, Andrew R. Webster, Anne B. Fulton, Iris Deitch, Vincent Dunet, Rola Ba-Abbad, Michel Michaelides, Gavin Arno, Virginie G. Peter, Eric A. Pierce, Emily Place, Eyal Banin, Boris Rosin, Mathieu Quinodoz, Carlo Rivolta, Tamar Ben-Yosef, Dror Sharon, Riccardo Sangermano, Naomi E Wagner, Ana Berta Sousa, Alaa AlTalbishi, Luisa Coutinho-Santos, Anna Larson
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ Genomic Medicine
NPJ Genomic Medicine
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has
Autor:
Jan-Willem R. Pott, Galuh D.N. Astuti, Esmee H. Runhart, Christian Gilissen, Silvia Albert, Carel B. Hoyng, Stéphanie S. Cornelis, Dyon Valkenburg, Joke B. G. M. Verheij, Riccardo Sangermano, Ellen A.W. Blokland, Mubeen Khan, Frans P.M. Cremers, L. Ingeborgh van den Born, Nathalie M. Bax
Publikováno v:
Investigative Ophthalmology and Visual Science, 60, 4249-4256
Investigative Ophthalmology and Visual Science, 60, 13, pp. 4249-4256
Investigative ophthalmology & visual science, 60(13), 4249-4256. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology and Visual Science, 60, 13, pp. 4249-4256
Investigative ophthalmology & visual science, 60(13), 4249-4256. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
PURPOSE. To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T, in Stargardt disease (STGD1).METHODS. Ophthalmic data were assessed of 18
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:
Kinga M. Bujakowska, Rola Ba-Abbad, Mariana Neves, Tamar Ben-Yosef, Ana Berta Sousa, Alaa AlTalbishi, Iris Deitch, Mathieu Quinodoz, Riccardo Sangermano, Boris Rosin, Eyal Banin, Luisa Coutinho-Santos, Michel Michaelides, Virginie G. Peter, Anna Larson, Anne B. Fulton, Vincent Dunet, Rachel M. Huckfeldt, Eric A. Pierce, Andrew R. Webster, Gavin Arno, Carlo Rivolta, Dror Sharon, Emily Place, Naomi E Wagner
PurposePathogenic variants in INPP5E cause Joubert syndrome, a systemic disorder that can manifest with retinal degeneration among other clinical features. We aimed to evaluate the role of INPP5E variants in non-syndromic inherited retinal degenerati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e487d3564d3471e3b98c6d17e19b33f
https://doi.org/10.1101/2020.08.24.20179085
https://doi.org/10.1101/2020.08.24.20179085