Browsing by Author "Kalu, N."

Now showing items 1-9 of 9

  • 22q11.2 deletion syndrome in diverse populations 

    Kruszka, P.; Addissie, Y.A.; McGinn, D.E.; Porras, A.R.; Biggs, E.; Share, M; Crowley, T.B.; Chung, B.H.; Mok, G.T.; Mak, C.C.; Muthukumarasamy, P.; Thong, M.K.; Sirisena, N.D.; Dissanayake, V.H.; Paththinige, C.S.; Prabodha, L.B.; Mishra, R.; Shotelersuk, V.; Ekure, E.N.; Sokunbi, O.J.; Kalu, N.; Ferreira, C.R.; Duncan, J.M.; Patil, S.J.; Jones, K.L.; Kaplan, J.D.; Abdul-Rahman, O.A.; Uwineza, A.; Mutesa, L.; Moresco, A.; Obregon, M.G.; Richieri-Costa, A.; Gil-da-Silva-Lopes, V.L.; Adeyemo, A.A.; Summar, M.; Zackai, E.H.; McDonald-McGinn, D.M.; Linguraru, M.G.; Muenke, M. (Wiley Periodicals, Inc., 2017-04)
    22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition ...
  • Clinical epidemiology of congenital heart disease in Nigerian children, 2012-2017 

    Ekure, E.N.; Kalu, N.; Sokunbi, O.J.; Kruszka, P.; Olusegun-Joseph, A.D.; Ikebudu, D.; Bala, D.; Muenke, M.; Adeyemo, A. (Wiley, 2018-10-02)
    BACKGROUND: Congenital heart diseases (CHDs) affect ~1% of newborns and are a significant cause of morbidity and mortality in children. We present the clinical epidemiology of CHD as seen in a large university medical ...
  • Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap 

    Ekure, E.N.; Sokunbi, O.; Kalu, N.; Olusegun-Joseph, A.; Kushimo, O.; Amadi, C.; Hassan, O.; Ikebudu, D.; Onyia, S.; Onwudiwe, C.; Nwankwo, V.; Akinwunmi, R.; Awusa, F.; Akere Z.; Dele-Salawu, O.; Ajayi, E.; Ale, O.; Muoneke, D.; Muenke, M.; Kruszka, P.; Beaton, A.; Sable, C.; Adeyemo, A. (Wiley Periodicals, Inc., 2020-03)
    Congenital heart disease (CHD) in low-and-middle income countries (LMIC) is often characterized by late presentation resulting from inadequate screening and healthcare access in these regions. Accurate estimates of the ...
  • Cover Image, Volume 173A, Number 4, April 2017 

    Kruszka, P.; Addissie, Y.A.; McGinn, D.E.; Porras, A.R.; Biggs, E.; Share, M.; Crowley, T.B.; Chung, B.H.Y.; Mok, G.T.K.; Muthukumarasamy, P.; Thong, M.; Sirisena, N.D.; Dissanayake, V.H.W.; Paththinige, C.S.; Prabodha, L.B.; Mishra, R.; Shotelersuk, V.; Ekure, E.N.; Sokunbi, O.J.; Kalu, N.; Ferreira, C.R.; Duncan, J.; Patil, S.J.; Jones, K.L.; Kaplan, J.D.; Abdul-Rahman, O.A.; Gil-da-Silva-Lopes, V.L.; Moresco, A.; Obregon, M.G.; Richieri-Costa, A.; Adeyemo, A.A.; Summar, M.; Zackai, E.H.; McDonald-McGinn, D.M.; Linguraru, M.G.; Muenke, M. (Wiley Periodicals, Inc., 2017-04)
    The cover image, by Paul Kruszka et al., is based on the Original Article 22q11.2 deletion syndrome in diverse populations, DOI: 10.1002/ajmg.a.38199. Individual images are property of the National Human Genome Research ...
  • Cover Image, Volume 173A, Number 9, September 2017 

    Kruszka, P.; Porras, A.R.; Addissie, Y.A.; Moresco, A; Medrano, S.; Mok, G.T.K.; Leung, G.K.C.; Tekendo-Ngongang, C.; Uwineza, A.; Thong, M.; Muthukumarasamy, P.; Honey, E.; Ekure, E.N.; Sokunbi, O.J.; Kalu, N.; Jones, K.L.; Kaplan, J.D.; Abdul-Rahman, O.A.; Vincent, L.; Love, A.; Belhassan, K.; Ouldim, K.; Bouchikhi, I.E.; Shukla, A.; Girisha, K.M.; Patil, S.J.; Sirisena, N.D.; Dissanayake, V.H.W.; Paththinige, C.S.; Mishra, R.; Klein-Zighelboim, E.; Gallardo Jugo, B.E.; Chávez Pastor, M.; Abarca-Barriga, H.H.; Skinner, S.A.; Prijoles, E.J.; Badoe, E.; Gill, A.D.; Shotelersuk, V.; Smpokou, P.; Kisling, M.S.; Ferreira, C.R.; Mutesa, L.; Megarbane, A.; Okello, E.; Lwabi, P.; Aliku, T.; Tenywa, E.; Boonchooduang, N.; Tanpaiboon, P.; Richieri-Costa, A.; Wonkam, A.; Chung, B.H.Y.; Stevenson, R.E.; Summar, M.; Obregon, M.G.; Linguraru, M.G.; Muenke, M. (Wiley Periodicals, Inc., 2017-09)
    The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.
  • Down syndrome in diverse populations 

    Kruszka, P.; Porras, A.R.; Sobering, A.K.; Ikolo, F.A.; La Qua, S.; Shotelersuk, V.; Chung, B.H.; Mok, G.T.; Uwineza, A.; Mutesa, L.; Moresco, A.; Obregon, M.G.; Sokunbi, O.J.; Kalu, N.; Joseph, D.A.; Ikebudu, D.; Ugwu, C.E.; Okoromah, C.A.; Addissie, Y.A.; Pardo, K.L.; Brough, J.J.; Lee, N.C.; Girisha, K.M.; Patil, S.J.; Ng, I.S.; Min, B.C.; Jamuar, S.S.; Tibrewal, S.; Wallang, B.; Ganesh, S.; Sirisena, N.D.; Dissanayake, V.H.; Paththinige, C.S.; Prabodha, L.B.; Richieri-Costa, A.; Muthukumarasamy, P.; Thong, M.K.; Jones, K.L.; Abdul-Rahman, O.A.; Ekure, E.N.; Adeyemo, A.A.; Summar, M.; Linguraru, M.G.; Muenke, M. (Wiley Periodicals, Inc., 2017-01)
    Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in ...
  • Echocardiographic screening of 4107 Nigerian school children for rheumatic heart disease. 

    Ekure, E.N.; Amadi, C.; Sokunbi, O.J.; Kalu, N.; Olusegun-Joseph, A.; Kushimo, O.; Hassan, O.; Ikebudu, D.; Onyia, S.; Onwudiwe, C.; Nwankwo, V.; Akinwunmi, R.; Awusa, F.; Akere, Z.; Dele-Salawu, O.; Ajayi, E.; Ale, O.; Muoneke, D.; Muenke, M.; Kruszka, P.; Beaton, A.; Sable, C.; Adeyemo, A. (Wiley, 2019-04-08)
    OBJECTIVE: Echocardiographic screening for Rheumatic Heart Disease (RHD) in Africa has revealed prevalence rates in the range of 0.5-7.4%. There are no recent large population-based studies in Nigeria. The objective of ...
  • Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa. 

    Ekure, E.N.; Adeyemo, A.; Liu, H.; Sokunbi, O.; Kalu, N.; Martinez, A.F.; Owosela, B.; Tekendo-Ngongang, C.; Addissie, Y.A.; Olusegun-Joseph, A.; Ikebudu, D.; Berger, S.I.; Muenke, M.; Han, Z.; Kruszka, P. (Lippincott Williams and Wilkins Ltd, 2021-01-15)
    Background: Congenital heart disease (CHD) is the most common birth defect and affects roughly 1% of the global population. There have been many large CHD sequencing projects in developing countries but none in sub-Saharan ...
  • Noonan syndrome in diverse populations 

    Kruszka, P.; Porras, A.R.; Addissie, Y.A.; Moresco, A.; Medrano, S.; Mok, G.T.K.; Leung, G.K.C.; Tekendo-Ngongang, C.; Uwineza, A.; Thong, M.K.; Muthukumarasamy, P.; Honey, E.; Ekure, E.N.; Sokunbi, O.J.; Kalu, N.; Jones, K.L.; Kaplan, J.D.; Abdul-Rahman, O.A.; Vincent, L.M.; Love, A.; Belhassan, K.; Ouldim, K.; El Bouchikhi, I.; Shukla, A.; Girisha, K.M.; Patil, S.J.; Sirisena, N.D.; Dissanayake, V.H.W.; Paththinige, C.S.; Mishra, R.; Klein-Zighelboim, E.; Gallardo Jugo, B.E.; Chávez Pastor, M.; Abarca-Barriga, H.H.; Skinner, S.A.; Prijoles, E.J.; Badoe, E.; Gill, A.D.; Shotelersuk, V.; Smpokou, P.; Kisling, M.S.; Ferreira, C.R.; Mutesa, L.; Megarbane, A.; Kline, A.D.; Kimball, A.; Okello, E.; Lwabi, P.; Aliku, T.; Tenywa, E.; Boonchooduang, N.; Tanpaiboon, P.; Richieri-Costa, A.; Wonkam, A.; Chung, B.H.Y.; Stevenson, R.E.; Summar, M.; Mandal, K.; Phadke, S.R.; Obregon, M.G.; Linguraru, M.G.; Muenke, M. (Wiley Periodicals, Inc., 2017-07-27)
    Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less ...