Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Elvis Twumasi Aboagye"'
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:
Oluwafemi Gabriel Oluwole, Chandre Oosterwyk, Dominique Anderson, Samuel Mawuli Adadey, Khuthala Mnika, Noluthando Manyisa, Abdoulaye Yalcouye, Edmond T. Wonkam, Elvis Twumasi Aboagye, Yacouba Dia, Esther Uwibambe, Mario Jonas, Roy Priestley, Kalinka Popel, Thumeka Manyashe, Carmen de Cock, Victoria Nembaware, Ambroise Wonkam
Publikováno v:
Journal of Molecular Pathology, Vol 3, Iss 4, Pp 262-272 (2022)
This study describes the roles of laboratory information management systems (LIMS) in multi-site genetics studies in Africa. We used the HiGeneS Africa project as a case study. The study participants were recruited in six African countries between 20
Externí odkaz:
https://doaj.org/article/f4257a1950c549faab6728a11061298e
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:
Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Leonardo Alves de Souza Rios, Elvis Twumasi Aboagye, Kevin Esoh, Noluthando Manyisa, Carmen De Kock, Gordon A. Awandare, Shaheen Mowla, Ambroise Wonkam
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
We have previously reported CLIC5A and SLC12A2 variants in two families from Cameroon and Ghana, segregating non-syndromic hearing impairment (NSHI). In this study, biological assays were performed to further functionally investigate the pathogenicit
Externí odkaz:
https://doaj.org/article/c30eeef92166471a8d715fdaa6992a3d
Autor:
Yacouba Dia, Birame Loum, Yaay Joor Koddu Biigé Dieng, Jean Pascal Demba Diop, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Abdoul Aziz Touré, Fallou Niang, Pierre Diaga Sarr, Cheikh Ahmed Tidiane Ly, Andrea Regina Gnilane Sène, Carmen De Kock, Rhiyana Bassier, Kalinka Popel, Rokhaya Ndiaye Diallo, Ambroise Wonkam, Bay Karim Diallo
Publikováno v:
Genes, Vol 14, Iss 3, p 562 (2023)
We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% (n = 15/44) of multiplex families in Senegal. The present study aimed to use community-based nationwide recruitment to determine the etiologies and the clinical profi
Externí odkaz:
https://doaj.org/article/cb27518190cb4269b0a2a835990a728a
Autor:
Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Lucas Amenga-Etego, Gordon A. Awandare, Ambroise Wonkam
Publikováno v:
Genes, Vol 14, Iss 2, p 399 (2023)
The genetic etiology of non-syndromic hearing impairment (NSHI) is highly heterogeneous with over 124 distinct genes identified. The wide spectrum of implicated genes has challenged the implementation of molecular diagnosis with equal clinical validi
Externí odkaz:
https://doaj.org/article/33cb450f039a45e6bd7d04352f4d50b4
Autor:
Yacouba Dia, Samuel Mawuli Adadey, Jean Pascal Demba Diop, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Carmen De Kock, Cheikh Ahmed Tidjane Ly, Oluwafemi Gabriel Oluwale, Andrea Regina Gnilane Sène, Pierre Diaga Sarr, Bay Karim Diallo, Rokhaya Ndiaye Diallo, Ambroise Wonkam
Publikováno v:
Biology, Vol 11, Iss 5, p 795 (2022)
This study aimed to investigate GJB2 (MIM: 121011) and GJB6 (MIM: 604418) variants associated with familial non-syndromic hearing impairment (HI) in Senegal. We investigated a total of 129 affected and 143 unaffected individuals from 44 multiplex fam
Externí odkaz:
https://doaj.org/article/2d1c2feb18454af69a407c83b21b5b7b
Autor:
Jane Afriyie-Mensah, Elvis Twumasi Aboagye, Vincent Jessey Ganu, Samuel Bondzi, Dennis Tetteh, Ernest Kwarteng, Joseph Akamah, Alfred Doku, Patrick Adjei
Publikováno v:
The Pan African Medical Journal, Vol 38, Iss 107 (2021)
The COVID-19 pandemic had caused significant morbidity and mortality, with over a million deaths recorded to date. Mortality recorded among severe-critically ill patients admitted to intensive care units (ICU) has been significantly high, especially
Externí odkaz:
https://doaj.org/article/b77cf5e2d640472393a8139e3950f8d1
Autor:
Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Kevin Esoh, Mario Jonas, Carmen de Kock, Lucas Amenga-Etego, Gordon A. Awandare, Ambroise Wonkam
Publikováno v:
Biology, Vol 11, Iss 3, p 476 (2022)
Gap junction protein beta 2 (GJB2) (connexin 26) variants are commonly implicated in non-syndromic hearing impairment (NSHI). In Ghana, the GJB2 variant p.(Arg143Trp) is the largest contributor to NSHI and has a reported prevalence of 25.9% in affect
Externí odkaz:
https://doaj.org/article/48277725a2b240b086e2f01f96c1e1dd
Autor:
Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Elvis Twumasi Aboagye, Daniel Wonder Nayo-Gyan, Maame Boatemaa Ansong, Osbourne Quaye, Gordon A. Awandare, Ambroise Wonkam
Publikováno v:
Life, Vol 10, Iss 11, p 258 (2020)
Mutations in connexins are the most common causes of hearing impairment (HI) in many populations. Our aim was to review the global burden of pathogenic and likely pathogenic (PLP) variants in connexin genes associated with HI. We conducted a systemat
Externí odkaz:
https://doaj.org/article/4598c7c187ed4b49923039fc4c988631