Devriendt K - 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: devriendt k. 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: devriendt k. 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: devriendt k. 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: devriendt k. 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

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: devriendt k. 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.

6

Meningocele in a congolese female with beckwith-wiedemann phenotype.

Mbuyi-Musanzayi S, Lubala Kasole T, Lumaka A, Kayembe Kitenge T, Kabamba Ngombe L, Kalenga Muenze P, Lukusa Tshilobo P, Tshilombo Katombe F, Banza Lubaba Nkulu C, Devriendt K. Mbuyi-Musanzayi S, et al. Among authors: devriendt k. Case Rep Genet. 2014;2014:989425. doi: 10.1155/2014/989425. Epub 2014 Dec 28. Case Rep Genet. 2014. PMID: 25610673 Free PMC article.

7

Sacrococcygeal appendage with femur: exoparasitic pyropagus twin, mature teratoma, or disorganization-like syndrome?

Mbuyi-Musanzayi S, Kasole TL, Muenze PK, Tshilobo PL, Kitenge TK, Ngombe LK, Katombe FT, Devriendt K. Mbuyi-Musanzayi S, et al. Among authors: devriendt k. Clin Dysmorphol. 2015 Oct;24(4):173-5. doi: 10.1097/MCD.0000000000000086. Clin Dysmorphol. 2015. PMID: 25945455 No abstract available.

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

9

Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α^3.7 triplication in congolese patients than in worldwide series.

Mikobi TM, Lukusa PT, Aloni MN, Lumaka A, Akilimali PZ, Devriendt K, Matthijs G, Mbuyi Muamba JM, Race V. Mikobi TM, et al. Among authors: devriendt k. J Clin Lab Anal. 2018 Jan;32(1):e22186. doi: 10.1002/jcla.22186. Epub 2017 Mar 9. J Clin Lab Anal. 2018. PMID: 28276593 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. Among authors: devriendt k. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

590 results

Search Page