1. Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo. 

Lumaka A, Lubala TK, Race V, Peeters H, Lukusa P, Devriendt K. 

J Community Genet. 2018 Jul 4. doi: 10.1007/s12687-018-0374-4. [Epub ahead of print]

PMID:29974402

2. Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.

Lubala TK, Lumaka A, Kanteng G, Mutesa L, Mukuku O, Wembonyama S, Hagerman R, Luboya ON, Lukusa Tshilobo P.

Mol Genet Genomic Med. 2018 Apr 6. doi: 10.1002/mgg3.398. [Epub ahead of print]

PMID:29624914 Free Article

3. Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa.

Lubala TK, Lumaka A, Mbuyi-Musanzayi S, Kayembe T, Shongo MYP, Mukuku O, Lubala N, Malamba-Lez D, Luboya ON, Lukusa-Tshilobo P.

Clin Dysmorphol. 2018 Apr;27(2):66-69. doi: 10.1097/MCD.0000000000000208. No abstract available. 

PMID:29319541

4. Contribution of the Clinical and Histopathological Features in the Positive Diagnosis of the Juvenile Polyposis Syndrome.

Poaty H, Batamba Bouya L, Gassaye D, Mavoungou Biatsi K, Lumaka Zola A, et al.

American J Genet Genom. 2018;1(1): 001-004.

 

 

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.

J Pediatr Genet. 2017 Sep;6(3):186-190. doi: 10.1055/s-0037-1599194. Epub 2017 Mar 7.

PMID:28794913

 

6. 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.

J Clin Lab Anal. 2018 Jan;32(1). doi: 10.1002/jcla.22207. Epub 2017 Mar 23.

PMID:28332727

 

 

7. Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7triplication 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.

J Clin Lab Anal. 2018 Jan;32(1). doi: 10.1002/jcla.22186. Epub 2017 Mar 9.

PMID:28276593

 

 

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.

Clin Genet. 2017 Aug;92(2):166-171. doi: 10.1111/cge.12948. Epub 2017 Jan 16.

PMID:27925162

 

 

9. 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.

Clin Case Rep. 2016 Feb 12;4(3):294-7. doi: 10.1002/ccr3.476. eCollection 2016 Mar.

PMID:27014455  Free PMC Article

 

 

10. 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.

Case Rep Genet. 2014;2014:989425. doi: 10.1155/2014/989425. Epub 2014 Dec 28.

PMID:25610673. Free PMC Article

 

 

11. 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.

Clin Case Rep. 2014 Dec;2(6):250-3. doi: 10.1002/ccr3.101. Epub 2014 Sep 15.

PMID:25548624. Free PMC Article

 

 

12. 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.

Case Rep Genet. 2014;2014:365031. doi: 10.1155/2014/365031. Epub 2014 Sep 1.

PMID:25254124. Free PMC Article

 

 

13. 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.

Eur J Med Genet. 2014 Mar;57(4):169-73. doi: 10.1016/j.ejmg.2014.01.004. Epub 2014 Jan 28.

PMID:24486773

 

 

14. Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.

Lumaka A, Van Hole C, Casteels I, Ortibus E, De Wolf V, Vermeesch JR, Lukusa T, Devriendt K.

Am J Med Genet A. 2012 Jun;158A(6):1381-7. doi: 10.1002/ajmg.a.35353. Epub 2012 May 11.

PMID:22581619

 

 

15. 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.

Eur J Pediatr. 2012 Feb;171(2):267-70. doi: 10.1007/s00431-011-1523-5. Epub 2011 Jul 8.

PMID:21739173

 

 

16. 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.

Genet Couns. 2009;20(4):349-58.

PMID:20162870

17. Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study.

Mbuyi-Musanzayi S, Kayembe TJ, Kashal MK, Lukusa PT, Kalenga PM, Tshilombo FK, Devriendt K, Reychler H.

J Craniomaxillofac Surg. 2018 Jul;46(7):1051-1058. doi: 10.1016/j.jcms.2018.05.006. Epub 2018 May 9.

PMID:29802056

18. Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients.

Mikobi TM, Lukusa Tshilobo P, Aloni MN, Mvumbi Lelo G, Akilimali PZ, Muyembe-Tamfum JJ, Race V, Matthijs G, Mbuyi Mwamba JM.

PLoS One. 2015 May 6;10(5):e0123568. doi: 10.1371/journal.pone.0123568. eCollection 2015.

PMID:25946088. Free PMC Article

19. Clinical phenotypes and the biological parameters of Congolese patients suffering from sickle cell anemia: A first report from Central Africa.

Mikobi TM, Lukusa Tshilobo P, Aloni MN, Akilimali PZ, Mvumbi-Lelo G, Mbuyi-Muamba JM.

J Clin Lab Anal. 2017 Nov;31(6). doi: 10.1002/jcla.22140. Epub 2017 Jan 23.

PMID:28116772

20. Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis.

Lukusa T, Fryns JP.

Genet Couns. 2010;21(1):25-34.

PMID:20420026

21. Human chromosome fragility.

Lukusa T, Fryns JP.

Biochim Biophys Acta. 2008 Jan;1779(1):3-16. Epub 2007 Dec 3. Review.

PMID:18078840

22. Terminal 2q37 deletion and autistic behaviour.

Lukusa T, Smeets E, Vogels A, Vermeesch JR, Fryns JP.

Genet Couns. 2005;16(2):179-80. No abstract available. 

PMID:16080299

23. De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature.

Lukusa T, Vermeesch JR, Fryns JP.

Genet Couns. 2005;16(1):1-15. Review.

PMID:15844773

24. Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.

Lukusa T, Vermeesch JR, Holvoet M, Fryns JP, Devriendt K.

Genet Couns. 2004;15(3):293-301.

PMID:15517821

25. Partial monosomy 11q and trisomy 12q: variable expression in two siblings.

Lukusa T, Holvoet M, Vermeesch JR, Devriendt K, Fryns JP.

Genet Couns. 2003;14(2):155-64.

PMID:12872809

26. Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis.

Lukusa T, Smeets E, Vermeesch JR, Fryns JP.

Genet Couns. 2002;13(4):417-25.

PMID:12558112

27. Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.

Lukusa T, Van Buggenhout G, Devriendt K, Fryns JP.

Genet Couns. 2002;13(1):1-10. Review.

PMID:12017231

28. Terminal 6q25.3 deletion and abnormal behaviour.

Lukusa T, Willekens D, Lukusa N, De Cock F, Fryns JP.

Genet Couns. 2001;12(3):213-21.

PMID:11693783

29. Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence.

Lukusa T, Fryns JP.

Genet Couns. 2000;11(2):119-26. Review.

PMID:10893663

30. Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.

Lukusa T, Devriendt K, Holvoet M, Fryns JP.

Am J Med Genet. 2000 Mar 20;91(3):192-7.

PMID:10756341

31. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.

Lukusa T, van den Berghe L, Smeets E, Fryns JP.

Ann Genet. 1999;42(4):215-20.

PMID:10674161

32. A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).

Lukusa T, Devriendt K, Fryns JP.

Ann Genet. 1999;42(2):91-4.

PMID:10434122

33. Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation.

Lukusa T, Devriendt K, Jaeken J, Fryns JP.

Clin Dysmorphol. 1999 Jan;8(1):47-51.

PMID:10327251

34. Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.

Lukusa T, Van Buggenhout G, Devriendt K, Meireleire J, Van Goethem G, Roelen L, Fryns JP.

Ann Genet. 1998;41(4):199-204. Review.

PMID:9881182

35. Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.

Lukusa T, Fryns JP.

Am J Med Genet. 1998 Dec 28;80(5):454-8.

PMID:9880208

36. Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.

Lukusa T, Devriendt K, Holvoet M, Fryns JP.

Clin Genet. 1998 Sep;54(3):224-30. Review.

PMID:9788726

37. Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome.

Fryns JP, Devlieger H, Gewillig M, Lukusa P, Devriendt K.

Genet Couns. 1996;7(3):237-9. No abstract available. 

PMID:8897048

38. Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies.

Lukusa T, Moerman P, Fryns JP.

Genet Couns. 1996;7(3):207-12.

PMID:8897042

39. The role of the Y-chromosome in sex determination.

Lukusa T, Fryns JP, van der Berghe H.

Genet Couns. 1992;3(1):1-11. Review.

PMID:1590975

40. "Spontaneous" FRA16B is a hot spot for sister chromatid exchanges.

Lukusa T, Meulepas E, Fryns JP, Van den Berghe H, Cassiman JJ.

Hum Genet. 1991 Sep;87(5):583-6.

PMID:1916761

41. Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes.

Lukusa T, Fryns JP, Kleczkowska A, Van den Berghe H.

Genet Couns. 1991;2(1):9-16.

PMID:1741980

42. No significant increase in spontaneous and ethyl methane sulfonate-induced sister chromatid exchanges at the Xq27.3 fragile site.

Lukusa T, Meulepas E, Fryns JP, Van den Berghe H, Cassiman JJ.

Cancer Genet Cytogenet. 1990 Oct 1;49(1):87-94.

PMID:2397476

43. SCE variability in lymphocytes and fibroblasts. A controlled study.

Lukusa T, Vercauteren P, Van den Berghe H, Cassiman JJ.

Hum Genet. 1988 Oct;80(2):117-23.

PMID:3169733

44. [Sexual ambiguity and a non-fluorescent Y chromosome].

Fryns JP, Lukusa T, Vereecken R, Van den Berghe H.

J Genet Hum. 1987 May;35(2-3):173-7. French. 

PMID:3612095

45. Internal male pseudohermaphroditism in a 6 week old child.

Lukusa T, Fryns JP, Van den Berghe H.

Eur J Pediatr. 1986 Dec;145(6):568-70.

PMID:3816864

46. [Sexual ambiguity and non-fluorescent Y chromosome in 45,X/46,XY mosaicism].

Lukusa T, Fryns JP, Vereecken R, Van den Berghe H.

Arch Fr Pediatr. 1986 Apr;43(4):263-5. French. 

PMID:3767589

47. Gonadoblastoma and Y-chromosome fluorescence.

Lukusa T, Fryns JP, van den Berghe H.

Clin Genet. 1986 Apr;29(4):311-6.

PMID:3720008