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Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 2, p. 451, doi. 10.1007/s10815-023-03010-8
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- Publication type:
- Article
Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.
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- EJHaem, 2023, v. 4, n. 3, p. 595, doi. 10.1002/jha2.735
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- Publication type:
- Article
Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.
- Published in:
- PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0278478
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- Article
Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium).
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- Journal of Genetic Counseling, 2022, v. 31, n. 5, p. 1043, doi. 10.1002/jgc4.1575
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- Article
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
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- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2571, doi. 10.1093/hmg/ddac055
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- Article
Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.
- Published in:
- 2022
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- Publication type:
- journal article
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.
- Published in:
- Human Genetics, 2022, v. 141, n. 7, p. 1279, doi. 10.1007/s00439-021-02400-1
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- Article
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.
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- Journal of Clinical Laboratory Analysis, 2022, v. 36, n. 5, p. 1, doi. 10.1002/jcla.24398
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- Article
CDG or not CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 383, doi. 10.1002/jimd.12498
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- Article
COG6‐CDG: Novel variants and novel malformation.
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- Birth Defects Research, 2022, v. 114, n. 5/6, p. 165, doi. 10.1002/bdr2.1981
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- Article
MAN1B1-CDG: novel patients and novel variant.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 9, p. 1207, doi. 10.1515/jpem-2021-0038
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- Article
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
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- Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x
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- Article
SLC37A4‐CDG: Second patient.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 122, doi. 10.1002/jmd2.12195
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- Article
Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature.
- Published in:
- 2020
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- Publication type:
- journal article
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.
- Published in:
- 2020
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- Publication type:
- journal article
Use of Endoglycosidase H as a diagnostic tool for MAN1B1‐CDG patients.
- Published in:
- Electrophoresis, 2018, v. 39, n. 24, p. 3133, doi. 10.1002/elps.201800020
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- Article
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00150
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- Article
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α<sup>3.7</sup> triplication in congolese patients than in worldwide series.
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- 2018
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- Publication type:
- journal article
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.
- Published in:
- 2018
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- Publication type:
- journal article
PMM2-CDG and sensorineural hearing loss.
- Published in:
- 2017
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- Publication type:
- Letter
Critical points for an accurate human genome analysis.
- Published in:
- Human Mutation, 2017, v. 38, n. 8, p. 912, doi. 10.1002/humu.23238
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- Article
Manganese-induced turnover of TMEM165.
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- Biochemical Journal, 2017, v. 474, n. 9, p. 1481, doi. 10.1042/BCJ20160910
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- Publication type:
- Article
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.
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- Human Mutation, 2017, v. 38, n. 3, p. 324, doi. 10.1002/humu.23150
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- Publication type:
- Article
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
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- Human Mutation, 2017, v. 38, n. 2, p. 148, doi. 10.1002/humu.23145
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- Publication type:
- Article
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.
- Published in:
- 2017
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- Publication type:
- journal article
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1489, doi. 10.1093/hmg/ddw026
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- Publication type:
- Article
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc is a biomarker of ALG1-CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 107, doi. 10.1007/s10545-015-9884-y
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- Publication type:
- Article
Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1, doi. 10.1038/ejhg.2014.146
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- Publication type:
- Article
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2748, doi. 10.1002/ajmg.a.37232
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- Article
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
- Published in:
- 2015
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- Publication type:
- journal article
Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.146
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- Publication type:
- Article
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.
- Published in:
- Glycobiology, 2015, v. 25, n. 6, p. 669, doi. 10.1093/glycob/cwv009
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- Publication type:
- Article
Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0123568
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- Publication type:
- Article
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. -1, doi. 10.1038/ejhg.2014.146
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- Publication type:
- Article
Clinical utility gene card for: Phosphomannose isomerase deficiency.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.29
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- Article
Clinical utility gene card for: Phosphomannomutase 2 deficiency.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1, doi. 10.1038/ejhg.2013.298
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- Publication type:
- Article
From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo.
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- BMC Public Health, 2014, v. 14, n. 1, p. 759, doi. 10.1186/1471-2458-14-759
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- Article
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 847, doi. 10.1038/ejhg.2013.231
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- Publication type:
- Article
Congenital disorders of glycosylation: other causes of ichthyosis.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 444, doi. 10.1038/ejhg.2013.168
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- Publication type:
- Article
From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo.
- Published in:
- 2014
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- Publication type:
- journal article
MAN1B1 Deficiency: An Unexpected CDG-II.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003989
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- Article
EPCAM germline and somatic rearrangements in lynch syndrome: identification of a novel 3′ EPCAM deletion.
- Published in:
- Genes, Chromosomes & Cancer, 2013, v. 52, n. 9, p. 845, doi. 10.1002/gcc.22080
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- Article
The European BRCA patent oppositions and appeals: coloring inside the lines.
- Published in:
- Nature Biotechnology, 2013, v. 31, n. 8, p. 704, doi. 10.1038/nbt.2644
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- Publication type:
- Article
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2914, doi. 10.1093/hmg/ddt146
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- Publication type:
- Article
The EuroGentest Clinical Utility Gene Cards continued.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 1, doi. 10.1038/ejhg.2012.161
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- Publication type:
- Article
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.
- Published in:
- Glycoconjugate Journal, 2013, v. 30, n. 1, p. 67, doi. 10.1007/s10719-012-9445-7
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- Publication type:
- Article
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 4, p. 550, doi. 10.1002/ana.23632
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- Publication type:
- Article
DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2027, doi. 10.1002/ajmg.a.35472
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- Publication type:
- Article
COG5-CDG: expanding the clinical spectrum.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-94
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- Publication type:
- Article
Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1612, doi. 10.1002/ajmg.a.35401
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- Publication type:
- Article