Zobrazeno 1 - 10
of 273
pro vyhledávání: '"A. Lumaka"'
Autor:
J. Harvengt, A. Lumaka, C. Fasquelle, J. H. Caberg, M. Mastouri, A. Janssen, L. Palmeira, V. Bours
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Context: ROHHAD syndrome presents a significant resemblance to HIDEA syndrome. The latter is caused by biallelic loss-of-function variants in the P4HTM gene and encompasses hypotonia, intellectual disabilities, eye abnormalities, hypoventilation, and
Externí odkaz:
https://doaj.org/article/e83cfcbc2e6341baa5790163bed7fe7d
Autor:
Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C., Campo, Miguel del, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M., Urraca, Nora, Bosfield, Kerri, Brown, Chester W., Lydigsen, Holly, Mroczkowski, Henry J., Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D., Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S., Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E., Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S., Perry, Denise L., Belmont, John, Taft, Ryan J.
Publikováno v:
In The American Journal of Human Genetics 11 July 2024 111(7):1271-1281
Autor:
Lubala, Toni Kasole, Kayembe-Kitenge, Tony, Mubungu, Gerrye, Lumaka, Aimé, Kanteng, Gray, Savage, Sarah, Luboya, Oscar, Hagerman, Randi, Devriendt, Koenraad, Lukusa-Tshilobo, Prosper
Publikováno v:
In European Journal of Medical Genetics September 2023 66(9)
Akademický článek
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Autor:
Mavinga, Laetitia Mpola, Kakiese, Veronique, Ngole, Mamy, Songo, Cathy, Lumaka, Aimé, Race, Valerie, Lukusa, Prosper Tshilobo, Devriendt, Koenraad
Publikováno v:
In European Journal of Medical Genetics November 2022 65(11)
Autor:
Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré, as members of the Rare Disease Working Group of the H3Africa Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
Abstract The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more diffi
Externí odkaz:
https://doaj.org/article/c0954aa3cc6e43369b949ba24f84d6e5
Autor:
Delgado-Vega, Angelica Maria, Cederroth, Helene, Taylan, Fulya, Ekholm, Katja, Ek, Marlene, Thonberg, Håkan, Jemt, Anders, Nilsson, Daniel, Eisfeldt, Jesper, Bilgrav Saether, Kristine, Höijer, Ida, Akgun-Dogan, Ozlem, Asano, Yui, Barakat, Tahsin Stefan, Batkovskyte, Dominyka, Baynam, Gareth, Bodamer, Olaf, Chetruengchai, Wanna, Corcoran, Pádraic, Couse, Madeline, Danis, Daniel, Demidov, German, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Grigelioniene, Giedre, Groza, Tudor, Gunnarsson, Cecilia, Hammarsjö, Anna, Hammond, Charles Kumi, Hatirnaz Ng, Özden, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin, Kvlividze, Oleg, Lagerstedt-Robinson, Kristina, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven, Lim, Weng Khong, Liu, Zhandong, Lysenkova Wiklander, Mariya, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen, Neethiraj, Ramprasad, Nigro, Vincenzo, Nordgren, Felix, Nordlund, Jessica, Orrsjö, Sara, Ottosson, Jesper, Ozbek, Ugur, Özdemir, Özkan, Partin, Clyde, Pearce, David A., Peck, Raquel, Pedersen, Annie, Pettersson, Maria, Pongpanich, Monnat, Posada de la Paz, Manuel, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard, Saw, Aung Min, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon, Tapia-Paez, Isabel, Taruscio, Domenica, Taylor, Julie P., Tkemaladze, Tinatin, Tully, Ian, Tümer, Zeynep, van Zelst-Stams, Wendy A. G., Verloes, Alain, Västerviga, Emma, Wang, Sailan, Yang, Rachel, Yamamoto, Shinya, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk, Wiafe, Samuel Agyei, Alanay, Yasemin, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé, Palmer, Elizabeth Emma, Puri, Ratna Dua, Wirta, Valtteri, Lindstrand, Anna, Buske, Orion J., Cederroth, Mikk, Nordgren, Ann
Publikováno v:
Nature Genetics; November 2024, Vol. 56 Issue: 11 p2287-2294, 8p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Joseph M. Bodi, Célestin N. Nsibu, Roland L. Longenge, Michel N. Aloni, Pierre Z. Akilimali, Patrick K. Kayembe, Ahmeddin H. Omar, Jan Verhaegen, Pierre M. Tshibassu, Prosper T. Lukusa, Aimé Lumaka, Kenji Hirayama
Publikováno v:
Malaria Journal, Vol 19, Iss 1, Pp 1-8 (2020)
Abstract Background Blackwater fever (BWF), one of the most severe and life-threatening forms of falciparum malaria, is characterized by acute massive intravascular haemolysis, often leading to acute renal failure. Thus far, the genetics of the under
Externí odkaz:
https://doaj.org/article/0a20c394773a4268a5c62522a0225525
Autor:
Paul Kabuyi Lumbala, Gloire Mbayabo, Mamy Nzita Ngole, Aimé Lumaka, Valerie Race, Gert Matthijs, Chris Van Geet, Prosper Tshilobo Lukusa, Koenraad Devriendt, Tite Minga Mikobi
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0278478 (2022)
BackgroundSickle cell anemia (SCA) is a monogenic hemoglobinopathy associated with severe acute and chronic complications, with the highest incidence worldwide in Sub-Saharan Africa. The wide variability in clinical manifestations suggest that a unif
Externí odkaz:
https://doaj.org/article/fe73b06b50184c348dbc70de6f338622