Zobrazeno 1 - 10
of 583
pro vyhledávání: '"John A, Sayer"'
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:
Mohamed S. Al Riyami, Intisar Al Alawi, Badria Al Gaithi, Anisa Al Maskari, Naifain Al Kalbani, Nadia Al Hashmi, Aisha Al Balushi, Maryam Al Shahi, Suliman Al Saidi, Muna Al Bimani, Fahad Al Hatali, Holly Mabillard, John A. Sayer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined by the presence of heavy proteinuria (>3.5 g/24 h), hypoalbuminemia (
Externí odkaz:
https://doaj.org/article/bc1175343931410fb57746ded5631b6d
Publikováno v:
F1000Research, Vol 11 (2023)
Background. Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with an estimated prevalence of 1 in 100,000. JS is characterized by hyperpnoea, hypotonia, ataxia, developmental delay and various neuropathological abnormalities in the brai
Externí odkaz:
https://doaj.org/article/8d747da280bc493dbd61faa05b47dba0
Autor:
Roman-Ulrich Müller, A. Lianne Messchendorp, Henrik Birn, Giovambattista Capasso, Emilie Cornec-Le Gall, Olivier Devuyst, Albertien van Eerde, Patrick Guirchoun, Tess Harris, Ewout J. Hoorn, Nine V.A.M. Knoers, Uwe Korst, Djalila Mekahli, Yannick Le Meur, Tom Nijenhuis, Albert C.M. Ong, John A. Sayer, Franz Schaefer, Aude Servais, Vladimir Tesar, Roser Torra, Stephen B. Walsh and Ron T. Gansevoort
Publikováno v:
Počki, Vol 11, Iss 1, Pp 37-39 (2022)
No abstract
Externí odkaz:
https://doaj.org/article/3f3763f45a78472d9048eb2d6d9503c1
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-13 (2020)
Abstract Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood. ARPKD ca
Externí odkaz:
https://doaj.org/article/a74a6375bd64435693d519320c8e611e
Autor:
J. Robert Harkness, Glenda M. Beaman, Keng W. Teik, Sangeet Sidhu, John A. Sayer, Heather J. Cordell, Huw B. Thomas, Katherine Wood, Helen M. Stuart, Adrian S. Woolf, William G. Newman
Publikováno v:
Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)
Externí odkaz:
https://doaj.org/article/61fa727ff6fc45e5a26768306ca2daf2
Autor:
Intisar Al Alawi, Elisa Molinari, Issa Al Salmi, Fatma Al Rahbi, Adhra Al Mawali, John A. Sayer
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-11 (2020)
Abstract Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney a
Externí odkaz:
https://doaj.org/article/97a93a7855714234b80459c9c8ee8d5f
Autor:
Tomás P Griffin, Caroline M Joyce, Sumaya Alkanderi, Liam M Blake, Derek T O’Keeffe, Delia Bogdanet, Md Nahidul Islam, Michael C Dennedy, John E Gillan, John J Morrison, Timothy O’Brien, John A Sayer, Marcia Bell, Paula M O’Shea
Publikováno v:
Endocrine Connections, Vol 9, Iss 6, Pp 530-541 (2020)
Introduction: Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-seve
Externí odkaz:
https://doaj.org/article/fffa229a24554561a6d9666239b8bf10
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, Laura Powell, Sarah J. Rice, Mohammed S. Al Riyami, Marwa Al-Riyami, Issa Al Salmi, John A. Sayer
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Variants in the GLIS family zinc finger protein 2 (GLIS2) are a rare cause of nephronophthisis-related ciliopathies (NPHP-RC). A reduction in urinary concentration and a progressive chronic tubulointerstitial nephropathy with corticomedullary cysts a
Externí odkaz:
https://doaj.org/article/5ea8894a3390408ebab0d658d0bea9d9