Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Miguel Barroso Gil"'
Autor:
Eric Olinger, Ian J. Wilson, Sarah Orr, Miguel Barroso-Gil, Ruxandra Neatu, Denize Atan, John A. Sayer, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)
Purpose: In parent-child trios with genome sequencing data, we investigated inherited biallelic deletions to identify known and novel genetic disorders. Methods: We developed a copy-number variations analysis pipeline based on autosomal genome sequen
Externí odkaz:
https://doaj.org/article/428632089e9d4e95b7ebde0ffccbd212
Autor:
María Teruel, Guillermo Barturen, Manuel Martínez-Bueno, Olivia Castellini-Pérez, Miguel Barroso-Gil, Elena Povedano, Martin Kerick, Francesc Català-Moll, Zuzanna Makowska, Anne Buttgereit, PRECISESADS Clinical Consortium, PRECISESADS Flow Cytometry Study Group, Jacques-Olivier Pers, Concepción Marañón, Esteban Ballestar, Javier Martin, Elena Carnero-Montoro, Marta E. Alarcón-Riquelme
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-18 (2021)
Abstract Primary Sjögren’s syndrome (SS) is a systemic autoimmune disease characterized by lymphocytic infiltration and damage of exocrine salivary and lacrimal glands. The etiology of SS is complex with environmental triggers and genetic factors
Externí odkaz:
https://doaj.org/article/3eee442ab7cc476caac7987d806bfc0e
Autor:
Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause J
Externí odkaz:
https://doaj.org/article/266582edfac14fc19954305d9954cf83
Autor:
Intisar Al Alawi, Mohammed Al Riyami, Miguel Barroso-Gil, Laura Powell, Eric Olinger, Issa Al Salmi, John A. Sayer
Publikováno v:
F1000Research, Vol 10 (2021)
Background: Whole exome sequencing (WES) is becoming part of routine clinical and diagnostic practice. In the investigation of inherited cystic kidney disease and renal ciliopathy syndromes, WES has been extensively applied in research studies as wel
Externí odkaz:
https://doaj.org/article/6a1063e8832344a489be7e94d74c6e16
Autor:
Laura A, Devlin, Janice, Coles, Claire L, Jackson, Miguel, Barroso-Gil, Ben, Green, Woolf T, Walker, N Simon, Thomas, James, Thompson, Simon A, Rock, Ruxandra, Neatu, Laura, Powell, Elisa, Molinari, Ian J, Wilson, Heather J, Cordell, Eric, Olinger, Colin G, Miles, John A, Sayer, Gabrielle, Wheway, Jane S, Lucas
Publikováno v:
Clinical geneticsREFERENCES.
Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting the brain, kidney, a
Autor:
Ian J. Wilson, Mohammed S. Al Riyami, Khawla A Rahim, Eric Olinger, Elisa Molinari, Laura Powell, Miguel Barroso-Gil, Abdulrahman Al-Hussaini, Naif A.M. Almontashiri, Shirlee Shril, John A. Sayer, Mohamed H Al-Hamed, Friedhelm Hildebrandt, Intisar Al Alawi, Colin G. Miles, Isa Al Salmi, Eissa Ali Faqeih
Publikováno v:
Hum Mutat
Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation. By candidate gene curation of WES data, combined with homozy
Autor:
Hugo Lemoine, Loann Raud, François Foulquier, John A. Sayer, Baptiste Lambert, Eric Olinger, Siriane Lefèvre, Bertrand Knebelmann, Peter C. Harris, Pascal Trouvé, Aurore Desprès, Gabrielle Duneau, Marie Matignon, Anais Poyet, Noémie Jourde-Chiche, Dominique Guerrot, Sandrine Lemoine, Guillaume Seret, Miguel Barroso-Gil, Coralie Bingham, Rodney Gilbert, Yannick Le Meur, Marie-Pierre Audrézet, Emilie Cornec-Le Gall
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (8), pp.1484-1499. ⟨10.1016/j.ajhg.2022.06.013⟩
American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (8), pp.1484-1499. ⟨10.1016/j.ajhg.2022.06.013⟩
International audience; Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are characterized by the development of kidney cysts and progressive kidney function decline. PKD1 and PKD2, encoding polycystin (PC)1 and 2, are t
Autor:
Albertien M. van Eerde, Miguel Barroso-Gil, Fouad T. Chebib, Yannick Le Meur, Vinh Toan Huynh, Andrew Mallett, Amali Mallawaarachchi, Marc Kribs, Himanshu Goel, Eléonore Ponlot, Chirag Patel, John A. Sayer, Albert C.M. Ong, Marie-Pierre Audrézet, Peter C. Harris, Siriane Lefevre, Sarah R. Senum, Valoris Le Brun, Emilie Cornec-Le Gall, Aurore Després
Publikováno v:
Kidney International
Kidney International, Nature Publishing Group, 2020, 98, pp.476-487. ⟨10.1016/j.kint.2020.02.022⟩
Kidney Int
Kidney International, Nature Publishing Group, 2020, 98, pp.476-487. ⟨10.1016/j.kint.2020.02.022⟩
Kidney Int
Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes one of the main cofactors of the endoplasmic reticulum chaperon BiP, a h
Autor:
Eric Olinger, Miguel Barroso-Gil, Simon A. Ramsbottom, Elisa Molinari, John A. Sayer, Colin G. Miles
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert sy
Autor:
Mohamed Al Hamed, Eric Olinger, Intisar Al Alawi, Miguel Barroso-Gil, Elisa Molinari, Eissa Faqeih, John A. Sayer, Ian D. Wilson
Publikováno v:
Nephrology Dialysis Transplantation. 36
Background and Aims Whole exome sequencing (WES) is becoming part of routine clinical and diagnostic practice and has been extensively applied in research studies as well as for diagnostic utility to detect various novel genes and variants. Filtering