A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome

Autor: Afolake Arowolo, Cenza Rhoda, Mzwandile Mbele, Oluwafemi G. Oluwole, Nonhlanhla Khumalo

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-7 (2022)

Abstract Background Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare and autosomal dominant multi-systemic fibrosing disease. To date

Externí odkaz: https://doaj.org/article/65b4216de284407a82dc9c8f4354de47

Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali

Autor: Abdoulaye Yalcouyé, Oumou Traoré, Abdoulaye Taméga, Alassane B. Maïga, Fousseyni Kané, Oluwafemi G. Oluwole, Cheick Oumar Guinto, Mohamed Kéita, Samba Karim Timbo, Carmen DeKock, Guida Landouré, Ambroise Wonkam

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Objectives: To identify the etiologies of hearing impairment (HI) in schools for students who are deaf and to use a systematic review to summarize reports on the etiologies and clinical and genetic features of HI in Mali.Methods: We included individu

Externí odkaz: https://doaj.org/article/51e42be6f940455789204f23eeebec8c

A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome.

Autor: Arowolo, Afolake^1,2 (AUTHOR), Rhoda, Cenza¹ (AUTHOR), Mbele, Mzwandile^1,2 (AUTHOR), Oluwole, Oluwafemi G.³ (AUTHOR) oluwafemi.oluwole@uct.ac.za, Khumalo, Nonhlanhla^1,2 (AUTHOR)

Publikováno v: Egyptian Journal of Medical Human Genetics. 12/25/2022, Vol. 23 Issue 1, p1-7. 7p.

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Autor: Oluwole, Oluwafemi G.¹ (AUTHOR), Kuivaniemi, Helena¹ (AUTHOR), Abrahams, Shameemah¹ (AUTHOR), Haylett, William L.^1,2 (AUTHOR), Vorster, Alvera A.³ (AUTHOR), van Heerden, Carel J.³ (AUTHOR), Kenyon, Colin P.^1,4,5,6 (AUTHOR), Tabb, David L.^1,4,5,6,7 (AUTHOR), Fawale, Michael B.⁸ (AUTHOR), Sunmonu, Taofiki A.⁹ (AUTHOR), Ajose, Abiodun¹⁰ (AUTHOR), Olaogun, Matthew O.¹¹ (AUTHOR), Rossouw, Anastasia C.¹² (AUTHOR), van Hillegondsberg, Ludo S.^12,13 (AUTHOR), Carr, Jonathan¹³ (AUTHOR), Ross, Owen A.^14,15 (AUTHOR), Komolafe, Morenikeji A.⁸ (AUTHOR), Tromp, Gerard^1,4,5,6,7 (AUTHOR) gctromp@sun.ac.za, Bardien, Soraya¹ (AUTHOR) sbardien@sun.ac.za

Publikováno v: BMC Medical Genetics. 2/4/2020, Vol. 21 Issue 1, p1-11. 11p.

University of Oxford Researcher Releases New Study Findings on Genetics (The analyses of human MCPH1 DNA repair machinery and genetic variations).

Publikováno v: Genomics & Genetics Weekly; 3/22/2024, p2448-2448, 1p