Lumaka A - Search Results

1

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.

Lumaka A, Fasquelle C, Debray FG, Alkan S, Jacquinet A, Harvengt J, Boemer F, Mulder A, Vaessen S, Viellevoye R, Palmeira L, Charloteaux B, Brysse A, Bulk S, Rigo V, Bours V. Lumaka A, et al. Int J Mol Sci. 2023 Feb 16;24(4):4003. doi: 10.3390/ijms24044003. Int J Mol Sci. 2023. PMID: 36835410 Free PMC article.

2

Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo).

Lumaka A, Bone D, Lukoo R, Mujinga N, Senga I, Tady B, Matthijs G, Lukusa TP. Lumaka A, et al. Genet Couns. 2009;20(4):349-58. Genet Couns. 2009. PMID: 20162870

3

A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.

Lumaka A, Mubungu G, Mukaba P, Mutantu P, Luyeye G, Corveleyn A, Tady BP, Lukusa Tshilobo P, Devriendt K. Lumaka A, et al. Eur J Med Genet. 2014 Mar;57(4):169-73. doi: 10.1016/j.ejmg.2014.01.004. Epub 2014 Jan 28. Eur J Med Genet. 2014. PMID: 24486773

4

Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa.

Mbuyi-Musanzayi S, Lumaka A, Yogolelo Asani B, Lubala Kasole T, Lukusa Tshilobo P, Kalenga Muenze P, Tshilombo Katombe F, Devriendt K. Mbuyi-Musanzayi S, et al. Among authors: lumaka a. Case Rep Genet. 2014;2014:365031. doi: 10.1155/2014/365031. Epub 2014 Sep 1. Case Rep Genet. 2014. PMID: 25254124 Free PMC article.

5

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Mbuyi-Musanzayi S, Lumaka A, Kasole TL, Ilunga EK, Asani BY, Tshilobo PL, Muenze PK, Reychler H, Katombe FT, Devriendt K. Mbuyi-Musanzayi S, et al. Among authors: lumaka a. J Pediatr Genet. 2017 Sep;6(3):186-190. doi: 10.1055/s-0037-1599194. Epub 2017 Mar 7. J Pediatr Genet. 2017. PMID: 28794913 Free PMC article.

6

Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families.

Kasole Lubala T, Kayembe-Kitenge T, Lubala N, Kanteng G, Luboya O, Hagerman R, Lukusa-Tshilobo P, Lumaka A. Kasole Lubala T, et al. Among authors: lumaka a. Clin Dysmorphol. 2024 Jan 1;33(1):9-15. doi: 10.1097/MCD.0000000000000471. Epub 2023 Nov 29. Clin Dysmorphol. 2024. PMID: 38038060

7

Factors associated with acute kidney injury (AKI) and mortality in COVID-19 patients in a Sub-Saharan African intensive care unit: a single-center prospective study.

Nlandu Y, Makulo JR, Essig M, Sumaili E, Lumaka A, Engole Y, Mboliasa MF, Mokoli V, Tshiswaka T, Nkodila A, Bukabau J, Longo A, Kajingulu F, Zinga C, Nseka N. Nlandu Y, et al. Among authors: lumaka a. Ren Fail. 2023;45(2):2263583. doi: 10.1080/0886022X.2023.2263583. Epub 2023 Oct 23. Ren Fail. 2023. PMID: 37870858 Free PMC article.

8

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Lumaka A, Cosemans N, Lulebo Mampasi A, Mubungu G, Mvuama N, Lubala T, Mbuyi-Musanzayi S, Breckpot J, Holvoet M, de Ravel T, Van Buggenhout G, Peeters H, Donnai D, Mutesa L, Verloes A, Lukusa Tshilobo P, Devriendt K. Lumaka A, et al. Clin Genet. 2017 Aug;92(2):166-171. doi: 10.1111/cge.12948. Epub 2017 Jan 16. Clin Genet. 2017. PMID: 27925162

9

Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

Mubungu G, Lumaka A, Matondo R, Mbayabo G, Tuka D, Kayembe C, Mulowhe D, Molua A, Tady BP, Nkidiaka E, Bunga P, Lukusa Tshilobo P, Devriendt K. Mubungu G, et al. Among authors: lumaka a. Clin Case Rep. 2014 Dec;2(6):250-3. doi: 10.1002/ccr3.101. Epub 2014 Sep 15. Clin Case Rep. 2014. PMID: 25548624 Free PMC article.

10

Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.

Mikobi TM, Tshilobo Lukusa P, Aloni MN, Lumaka AZ, Kaba DK, Devriendt K, Matthijs G, Mbuyi Muamba JM, Race V. Mikobi TM, et al. J Clin Lab Anal. 2018 Jan;32(1):e22207. doi: 10.1002/jcla.22207. Epub 2017 Mar 23. J Clin Lab Anal. 2018. PMID: 28332727 Free PMC article.

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