OpenUCT Home
→
Browsing by Author

Browsing by Author "Wonkam, Ambroise"

Now showing items 1-20 of 32

Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations

Author: Aboagye, Elvis Twumasi ; Adadey, Samuel Mawuli ; Esoh, Kevin ; Jonas, Mario ; de Kock, Carmen ; Amenga-Etego, Lucas ; Awandare, Gordon A ; Wonkam, Ambroise Date: 21 Mar 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% ... Read more c b
Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon

Author: Wonkam, Ambroise ; Bitoungui, Valentina J Ngo ; Vorster, Anna A ; Ramesar, Raj ; Cooper, Richard S ; Tayo, Bamidele ; Lettre, Guillaume ; Ngogang, Jeanne Date: 2014 BACKGROUND: Genetic variation at loci influencing adult levels of HbF have been shown to modify the clinical course of sickle cell disease (SCD). Data on this important aspect of SCD have not yet been reported from West Africa. We investigated ... Read more c b
Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon

Author: Geard, Amy Date: 2016 Introduction: Sickle Cell Disease (SCD) is a monogenic, multi-organ hemoglobinopathy disorder that is highly prevalent in Africa, with nearly 300 000 newborn cases per year. The underlying pathophysiological mechanism of the disease involves ... Read more
Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

Author: Wonkam-Tingang, Edmond ; Schrauwen, Isabelle ; Esoh, Kevin K ; Bharadwaj, Thashi ; Nouel-Saied, Liz M ; Acharya, Anushree ; Nasir, Abdul ; Adadey, Samuel M ; Mowla, Shaheen ; Leal, Suzanne M ; Wonkam, Ambroise Date: 23 Oct 2020 DNA samples from five members of a multiplex non-consanguineous Cameroonian family, segregating prelingual and progressive autosomal recessive non-syndromic sensorineural hearing impairment, underwent whole exome sequencing. We identified ... Read more c b
Biomedical research, a tool to address the health issues that affect African populations

Author: Peprah, Emmanuel ; Wonkam, Ambroise Date: 2013 Traditionally, biomedical research endeavors in low to middle resources countries have focused on communicable diseases. However, data collected over the past 20years by the World Health Organization (WHO) show a significant increase in the ... Read more c b
Chronic kidney disease in HIV populations: prevalence, risk factors and role of transforming growth factor beta (TGF-߀1) polymorphisms

Author: Ekrikpo, Udeme Ekpenyong Date: 2019 Background and purpose: With the advent of antiretroviral therapy, HIV-infected individuals now live longer and are at increased risk of chronic kidney disease (CKD). Also, recent studies indicate a genetic predisposition to CKD in the African ... Read more
Clinical Spectrum of congenital heart defects (CHD) detected at the child health Clinic in a Tertiary Health Facility in Ghana: a retrospective analysis

Author: Thomford, Nicholas E ; Biney, Robert P ; Okai, Emmanuel ; Anyanful, Akwasi ; Nsiah, Paul ; Frimpong, Prosperity G ; Boakye, Dominic O ; Adongo, Charles A ; Kruszka, Paul ; Wonkam, Ambroise Date: 03 Aug 2020 Abstract Background Congenital heart defects (CHD) are the singular most common congenital anomalies and account for a significant fraction of childhood mortality and morbidity. CHD occurs in ... Read more
The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival

Author: Rumaney, Maryam Bibi ; Bitoungui, Valentina Josiane Ngo ; Vorster, Anna Alvera ; Ramesar, Raj ; Kengne, Andre Pascal ; Ngogang, Jeanne ; Wonkam, Ambroise Date: 2014 BACKGROUND: Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA) patients. The present study aimed to explore the correlation between α-thalassemia, ... Read more c b
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden

Author: Adadey, Samuel Mawuli ; Wonkam-Tingang, Edmond ; Twumasi Aboagye, Elvis ; Nayo-Gyan, Daniel Wonder ; Boatemaa Ansong, Maame ; Quaye, Osbourne ; Awandare, Gordon A. ; Wonkam, Ambroise Date: 28 Oct 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 ... Read more c b
Do solidarity and reciprocity obligations compel African researchers to feedback individual genetic results in genomics research?

Author: Ralefala, Dimpho ; Kasule, Mary ; Wonkam, Ambroise ; Matshaba, Mogomotsi ; de Vries, Jantina Date: 04 Nov 2020 Abstract Background A key ethical question in genomics research relates to whether individual genetic research results should be disclosed to research participants and if so, which results are ... Read more
Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing

Author: Lebeko, Kamogelo Date: 2019 Hearing Loss (HL) is one of the highest contributors to disability worldwide. The highest incidence of the disease is seen in developing countries, such as those in subSaharan Africa (SSA). Patients affected with disabling HL are reported to ... Read more
Genetic investigation of South Africans with the Noonan Syndrome phenotype using targeted next generation sequencing

Author: Ngongang Tekendo, Cedrik Date: 2017 Introduction: Noonan Syndrome (NS) is an autosomal dominant multisystem disorder, characterised by short stature, distinctive facial dysmorphism, cardiovascular abnormalities and developmental delay. Its estimated incidence is 1:1000 to 1:2500 ... Read more
Genetic variation in toll like receptors 2, 7, 9 and interleukin-6 is associated with cytomegalovirus infection in late pregnancy

Author: Mhandire, Doreen Z ; Mhandire, Kudakwashe ; Magadze, Mulalo ; Wonkam, Ambroise ; Kengne, Andre P ; Dandara, Collet Date: 25 May 2020 Background Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the role of host genetic polymorphisms in modulating maternal CMV status is inconclusive. ... Read more c b
Genomic medicine in Africa: promise, problems and prospects

Author: Wonkam, Ambroise ; Mayosi, Bongani Date: 2014 Remarkable progress has been made in using genomic information to determine how genes are regulated, and how they interact with each other and with the environment to control complex biochemical functions of living organisms in health and ... Read more c b
GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal

Author: Dia, Yacouba ; Adadey, Samuel Mawuli ; Diop, Jean Pascal Demba ; Aboagye, Elvis Twumasi ; Ba, Seydi Abdoul ; De Kock, Carmen ; Ly, Cheikh Ahmed Tidjane ; Oluwale, Oluwafemi Gabriel ; Sène, Andrea Regina Gnilane ; Sarr, Pierre Diaga ; Diallo, Bay Karim ; Diallo, Rokhaya Ndiaye ; Wonkam, Ambroise Date: 23 May 2022 The prevalence of GJB2-related (MIM: 121011) congenital non-syndromic hearing impairment (NSHI) accounts for close to 50% in populations of Asian and European ancestry. However, in sub-Saharan Africa, except for Ghana, previous data showed ... Read more c b
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome

Author: Wonkam, Ambroise ; Noubiap, Jean ; Bosch, Jason ; Dandara, Collet ; Toure, Genevieve Date: 2013 BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appears to be genetically ... Read more c b
Identifying Genes and Novel Variants Involved in Nonsyndromic Hearing Impairment, and Assessment of the Psychosocial Burden of Hearing Impairment in Cameroon

Author: Wonkam, Tingang Edmond Date: 2021 Background Hearing impairment (HI) is the most common sensory disability and occurs in about 1 per 1000 live births in high-income countries, with a much higher incidence of up to 6 per 1000 live births in sub-Saharan Africa (SSA). HI can be ... Read more
Implementation science research for the scale-up of evidence-based interventions for sickle cell disease in africa: a commentary

Author: Gyamfi, Joyce ; Ojo, Temitope ; Iwelunmor, Juliet ; Ogedegbe, Gbenga ; Ryan, Nessa ; Diawara, Amy ; Nnodu, Obiageli ; Wonkam, Ambroise ; Royal, Charmaine ; Peprah, Emmanuel Date: 17 Feb 2021 Background The burden of sickle cell disease (SCD) is greatest among African nations. Effective scalability of evidence-based interventions (e.g., newborn screening, health education, prophylaxis for infection, optimal nutrition ... Read more c b
Knowledge and experiences of parents with children affected by Sickle Cell Disease in Cape Town

Author: Van Niekerk, Katryn Date: 2015 Sickle Cell Disease (SCD) is an autosomal recessively inherited blood disorder that leads to a debilitating systemic illness. Although the disease was initially found predominantly in tropical and subtropical regions, SCD has now become a ... Read more
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

Author: Manyisa, Noluthando ; Schrauwen, Isabelle ; de Souza Rios, Leonardo Alves ; Mowla, Shaheen ; Tekendo-Ngongang, Cedrik ; Popel, Kalinka ; Esoh, Kevin ; Bharadwaj, Thashi ; Nouel-Saied, Liz M. ; Acharya, Anushree ; Nasir, Abdul ; Wonkam-Tingang, Edmond ; Kock, Carmen de ; Dandara, Collet ; Leal, Suzanne M. ; Wonkam, Ambroise Date: 06 Nov 2021 Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome ... Read more c b

Now showing items 1-20 of 32

Browse

All of OpenUCT

Browsing by Author "Wonkam, Ambroise"

Browsing by Author "Wonkam, Ambroise"

Browse

All of OpenUCT