Detalhe da pesquisa
1.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
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.
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Clin Genet
; 105(6): 676-682, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356193
4.
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
5.
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
6.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clin Genet
; 98(3): 261-273, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32621347
7.
Target population for a selective cardiac myosin inhibitor in hypertrophic obstructive cardiomyopathy: Real-life estimation from the French register of hypertrophic cardiomyopathy (REMY).
Arch Cardiovasc Dis
; 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38762345
8.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
NPJ Genom Med
; 9(1): 22, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531898
9.
A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.
Clin Case Rep
; 11(2): e6760, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860721
10.
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
JAMA Cardiol
; 8(8): 721-731, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37405741
11.
Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort.
Front Cardiovasc Med
; 9: 953894, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36262204
12.
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Birth Defects Res
; 113(18): 1324-1332, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491000
13.
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Orphanet J Rare Dis
; 16(1): 504, 2021 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863227
14.
Acquired pseudoxanthoma elasticum-like syndrome and pyruvate kinase deficiency: a case of iron overload?
Eur J Dermatol
; 33(3): 319-320, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37594352