Detalhe da pesquisa
1.
HRAS-related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects.
Clin Genet
; 103(6): 709-713, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896710
2.
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Acta Neuropathol
; 145(6): 793-814, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000196
3.
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
J Med Genet
; 59(5): 496-504, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820832
4.
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Hum Mutat
; 43(12): 1872-1881, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317459
5.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(11): 6125-6148, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34188164
6.
Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases.
Int J Mol Sci
; 23(23)2022 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36499615
7.
Minocycline Counteracts Ectopic Calcification in a Murine Model of Pseudoxanthoma Elasticum: A Proof-of-Concept Study.
Int J Mol Sci
; 23(3)2022 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163765
8.
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.
Genet Med
; 23(1): 131-139, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873932
9.
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Clin Genet
; 99(3): 449-456, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340101
10.
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
Genet Med
; 22(1): 112-123, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273343
11.
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
Clin Genet
; 98(1): 74-79, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32270475
12.
Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum.
Lasers Med Sci
; 35(8): 1821-1830, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32372237
13.
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Am J Hum Genet
; 99(1): 125-38, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374770
14.
The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders.
Int J Mol Sci
; 20(9)2019 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31052252
15.
The Genetics of Soft Connective Tissue Disorders.
Annu Rev Genomics Hum Genet
; 16: 229-55, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26002060
16.
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Prenat Diagn
; 38(13): 1120-1128, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334587
17.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735298
18.
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Am J Med Genet B Neuropsychiatr Genet
; 177(4): 397-405, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603867
19.
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(12): 7852, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34282265
20.
GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.
Int J Mol Sci
; 18(2)2017 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125048