Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Clinical zinc deficiency as early presentation of Wilson disease.
J Pediatr Gastroenterol Nutr
; 60(4): 457-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25825851
10.
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
Mol Genet Metab
; 113(3): 230-5, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25240749
11.
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
Am J Med Genet A
; 164A(3): 620-6, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357125
12.
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.
Arterioscler Thromb Vasc Biol
; 33(11): 2646-52, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23968982
13.
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
Am J Med Genet A
; 161A(9): 2352-7, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918290
14.
Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases.
Biomolecules
; 13(11)2023 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002303
15.
Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.
J Clin Med
; 12(5)2023 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36902680
16.
The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients.
Biomedicines
; 11(10)2023 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37893046
17.
Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum.
J Invest Dermatol
; 142(6): 1629-1638.e6, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34742705
18.
Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.
J Clin Med
; 11(13)2022 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35807012
19.
Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.
J Pediatr
; 159(2): 347-9, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21704322
20.
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?
Am J Med Genet A
; 155A(11): 2855-9, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21964806