List of works - Aimé Lumaka

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

scientific article published on 08 August 2018

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

scientific article published on 28 January 2014

Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series.

scientific article

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

scientific article published on 29 December 2020

Congenital lateral abdominal wall defect in two Congolese children

scientific article published on 01 January 2019

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

scientific article published on 27 November 2020

Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case-control study in Congolese children

scientific article published on 15 January 2020

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

scientific article published on 7 December 2016

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

scientific article published on 6 April 2018

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

scientific article published on 9 January 2018

Meningocele in a congolese female with beckwith-wiedemann phenotype

scientific article

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

scientific article published on 23 October 2019

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

scientific article published on 07 January 2020

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

scientific article published on 14 May 2020

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

scientific article

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

scientific article published on 23 March 2017

Screening of germline mutations in young Rwandan patients with breast cancers

scientific article published on 22 September 2020

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

scientific article

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

scientific article published on 04 July 2018

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

scientific article published on 11 May 2012

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

scientific article published on 12 February 2016

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

scientific article published on 07 March 2017

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

scientific article

List of works by Aimé Lumaka

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

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

Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series.

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

Congenital lateral abdominal wall defect in two Congolese children

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

Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case-control study in Congolese children

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

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

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

Meningocele in a congolese female with beckwith-wiedemann phenotype

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

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

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

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

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

Screening of germline mutations in young Rwandan patients with breast cancers

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

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

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

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

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

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