Detalhe da pesquisa
1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37979581
2.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35470444
3.
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.
Int J Mol Sci
; 23(4)2022 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35216372
4.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30287593
5.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
J Med Genet
; 56(10): 701-710, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31451536
6.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30190612
7.
Exome copy number variation detection: Use of a pool of unrelated healthy tissue as reference sample.
Genet Epidemiol
; 41(1): 35-40, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27862228
8.
Genomic studies of multiple myeloma reveal an association between X chromosome alterations and genomic profile complexity.
Genes Chromosomes Cancer
; 56(1): 18-27, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27454822
9.
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
N Engl J Med
; 371(25): 2363-74, 2014 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-25470569
10.
Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.
Pituitary
; 19(5): 507-14, 2016 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-27287035
11.
Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.
J Trop Pediatr
; 62(1): 38-45, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26507407
12.
Correspondence on: "Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?" by Kay et al.
Genet Med
; 22(11): 1913-1914, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32601389
13.
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
J Inherit Metab Dis
; 38(6): 1147-53, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25971455
14.
Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.
BMC Med Genet
; 15: 79, 2014 Jul 12.
Artigo
Inglês
| MEDLINE | ID: mdl-25016475
15.
Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.
J Trop Pediatr
; 60(2): 112-7, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24213305
16.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv
; 2023 May 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37292616
17.
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.
Sci Rep
; 11(1): 3011, 2021 02 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33542429
18.
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Sci Rep
; 11(1): 19922, 2021 10 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34620959
19.
Surface Mucin-1 does not play a role in dendritic cell migration.
Mol Immunol
; 46(4): 738-42, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-18952292
20.
Increased migration of Langerhans cells in response to HPV16 E6 and E7 oncogene silencing: role of CCL20.
Cancer Immunol Immunother
; 58(1): 39-47, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18438663