Zobrazeno 1 - 10
of 164
pro vyhledávání: '"Isabelle, Schrauwen"'
Autor:
Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Siren, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology of neurodevelopmental disorders (NDDs). Op
Externí odkaz:
https://doaj.org/article/fbba5398c7c74c1c917830d716485070
Autor:
Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101469- (2024)
Externí odkaz:
https://doaj.org/article/0bcd695479904c01b8c45291edea92ee
Autor:
Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal, Ambroise Wonkam
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Background Childhood hearing impairment (HI) is genetically heterogeneous with many implicated genes, however, only a few of these genes are reported in African populations. Methods This study used exome and Sanger sequencing to resolve the
Externí odkaz:
https://doaj.org/article/c26c36b2c8bc4f9cbf88d7ad662a1b90
Autor:
Ambroise Wonkam, Samuel Mawuli Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, Edmond Wonkam-Tingang, Kevin Esoh, Kalinka Popel, Noluthando Manyisa, Mario Jonas, Carmen deKock, Victoria Nembaware, Diana M. Cornejo Sanchez, Thashi Bharadwaj, Abdul Nasir, Jenna L. Everard, Magda K. Kadlubowska, Liz M. Nouel-Saied, Anushree Acharya, Osbourne Quaye, Geoffrey K. Amedofu, Gordon A. Awandare, Suzanne M. Leal
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-16 (2022)
Whole-exome sequencing for 51 families in Ghana reveals 7 candidate genes associated with hearing impairment, 6 of which have previously been demonstrated to be expressed in the mouse inner ear.
Externí odkaz:
https://doaj.org/article/d54deff9f373468982ff9b09bed87e3a
Autor:
Elnaz Naderi, Diana M. Cornejo-Sanchez, Guangyou Li, Isabelle Schrauwen, Gao T. Wang, Andrew T. Dewan, Suzanne M. Leal
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Age-related (AR) hearing loss (HL) is the most common sensory impairment with heritability of 55%. The aim of this study was to identify genetic variants on chromosome X associated with ARHL through the analysis of data obtained from the UK Biobank.
Externí odkaz:
https://doaj.org/article/4d53963c456f47a194dd2ae3d31d2082
Autor:
Tianwei Qian, Qiaoyun Gong, Hangqi Shen, Caihua Li, Gao Wang, Xun Xu, Isabelle Schrauwen, Weijun Wang
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus. Methods Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photograp
Externí odkaz:
https://doaj.org/article/59d47f852ff84373b94a0ff04f53055a
Autor:
Tianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xu
Publikováno v:
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus. Methods Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indire
Externí odkaz:
https://doaj.org/article/9aa1164c5f7549eeac670ae8c4c58971
Autor:
Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Branchio‐otic syndrome (BO) is one of the most common types of syndromic hearing impairment (HI) with an incidence of 1/40,000 globally. It is an autosomal dominant disorder typically characterized by the coexistence of branchia
Externí odkaz:
https://doaj.org/article/ca03eeb61eff4b5fbd4945c6bd94d3c1
Autor:
Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy
Publikováno v:
Cells, Vol 12, Iss 10, p 1437 (2023)
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping neurological phenotype with RTT but are lacking a mutat
Externí odkaz:
https://doaj.org/article/20acec46706042719162109c33744bd6
Autor:
Zhiying Xie, Chengyue Sun, Siwen Zhang, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Anushree Acharya, Diana M Cornejo‐Sanchez, Gao Wang, Wei Zhang, Isabelle Schrauwen, Suzanne M. Leal, Zhaoxia Wang, Yun Yuan
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2041-2046 (2020)
Abstract The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remain
Externí odkaz:
https://doaj.org/article/ffbaa68e3f9e49fe931eca5411b5b6fc