Mubungu G - Search Results

1

Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.

Lumaka A, Lukoo R, Mubungu G, Lumbala P, Mbayabo G, Mupuala A, Tshilobo PL, Devriendt K. Lumaka A, et al. Among authors: mubungu g. Clin Case Rep. 2016 Feb 12;4(3):294-7. doi: 10.1002/ccr3.476. eCollection 2016 Mar. Clin Case Rep. 2016. PMID: 27014455 Free PMC article.

2

X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.

Lumaka A, Mubungu G, Nsibu C, Tady BP, Lukusa T, Devriendt K. Lumaka A, et al. Among authors: mubungu g. Eur J Pediatr. 2012 Feb;171(2):267-70. doi: 10.1007/s00431-011-1523-5. Epub 2011 Jul 8. Eur J Pediatr. 2012. PMID: 21739173

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. Among authors: mubungu g. 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

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. 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.

5

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. Among authors: mubungu g. Clin Genet. 2017 Aug;92(2):166-171. doi: 10.1111/cge.12948. Epub 2017 Jan 16. Clin Genet. 2017. PMID: 27925162

6

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Lumaka A, Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K. Lumaka A, et al. Among authors: mubungu g. Am J Med Genet A. 2018 Sep;176(9):1897-1909. doi: 10.1002/ajmg.a.40382. Epub 2018 Aug 8. Am J Med Genet A. 2018. PMID: 30088852 Free PMC article.

7

Congenital lateral abdominal wall defect in two Congolese children.

Mubungu G, Kadima B, Lumaka A, Mbayabo G, Lukusa Tshilobo P, Devriendt K. Mubungu G, et al. Clin Dysmorphol. 2019 Jan;28(1):50-52. doi: 10.1097/MCD.0000000000000239. Clin Dysmorphol. 2019. PMID: 30138140 No abstract available.

8

Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies.

Mubungu G, Lumaka A, Mvuama N, Tshika D, Makay P, Tshilobo PL, Devriendt K. Mubungu G, et al. Am J Med Genet A. 2020 Apr;182(4):632-639. doi: 10.1002/ajmg.a.61477. Epub 2020 Jan 7. Am J Med Genet A. 2020. PMID: 31912658

9

Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).

Mubungu G, Lukute G, Makay P, Songo C, Lukusa P, Devriendt K, Lumaka A. Mubungu G, et al. Am J Med Genet A. 2020 Jul;182(7):1572-1575. doi: 10.1002/ajmg.a.61617. Epub 2020 May 14. Am J Med Genet A. 2020. PMID: 32406590

10

Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo.

Mubungu G, Makay P, Lumaka A, Mvuama N, Tshika D, Tady BP, Biselele T, Roelants M, Tshilobo PL, Devriendt K. Mubungu G, et al. Am J Med Genet A. 2021 Feb;185(2):453-460. doi: 10.1002/ajmg.a.61987. Epub 2020 Nov 27. Am J Med Genet A. 2021. PMID: 33247552 Free article.

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