Detalhe da pesquisa
1.
Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome.
PLoS Genet
; 18(3): e1010059, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35245290
2.
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Mol Genet Genomics
; 299(1): 44, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38625590
3.
Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.
Eur Heart J
; 43(17): 1668-1680, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35245370
4.
Acute decrease of urine calcium by amiloride in healthy volunteers under high-sodium diet.
Nephrol Dial Transplant
; 37(2): 298-303, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33914065
5.
Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling.
Int J Mol Sci
; 23(9)2022 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563538
6.
Spontaneous Cervical Artery Dissection in Vascular Ehlers-Danlos Syndrome: A Cohort Study.
Stroke
; 52(5): 1628-1635, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33641388
7.
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
Clin Genet
; 100(2): 206-212, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33890303
8.
Vascular Ehlers-Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage.
Eur Radiol
; 31(8): 6275-6285, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33651202
9.
Mutations in DCHS1 cause mitral valve prolapse.
Nature
; 525(7567): 109-13, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258302
10.
Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.
Clin Genet
; 97(2): 357-361, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31531849
11.
Prognostic value of the 12-lead surface electrocardiogram in sarcomeric hypertrophic cardiomyopathy: data from the REMY French register.
Europace
; 22(1): 139-148, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31603495
12.
Communication of genetic information to at-risk relatives during the multidisciplinary monitoring of vascular Ehlers-Danlos syndrome in a French referral clinic.
J Genet Couns
; 29(5): 828-837, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31903687
13.
Severe Arterial Hypertension from Cullin 3 Mutations Is Caused by Both Renal and Vascular Effects.
J Am Soc Nephrol
; 30(5): 811-823, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30967423
14.
Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.
J Am Soc Nephrol
; 30(8): 1534-1545, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31285285
15.
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Kidney Int
; 96(6): 1408-1416, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31672324
16.
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Genet Med
; 21(7): 1568-1575, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30474650
17.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
18.
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Clin Genet
; 96(4): 317-329, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245841
19.
Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review.
Dis Colon Rectum
; 62(7): 859-866, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31188187
20.
Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.
Vasc Med
; 24(5): 461-464, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164056