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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38356193
2.
Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines Treatment.
J Craniofac Surg;
2024 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38299863
3.
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Neth Heart J;
31(7-8): 300-307, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37488328
4.
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Clin Exp Rheumatol;
40 Suppl 134(5): 46-62, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35587586
5.
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Int J Mol Sci;
23(18)2022 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36142674
6.
The natural history of a family with aortic dissection associated with a novel ACTA2 variant.
Ann Vasc Surg;
77: 348.e7-348.e11, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34437965
7.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Clin Genet;
97(5): 723-730, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31898322
8.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Hum Mutat;
39(9): 1173-1192, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29907982
9.
Management and outcomes of pregnant women with cardiovascular diseases in a cardio-obstetric team.
Arch Cardiovasc Dis;
2024 Apr 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38644069
10.
Obstetrical outcomes in cases of maternal heart disease with a risk of cardiac decompensation: A retrospective study since the establishment of a multidisciplinary consultation meeting "heart and pregnancy".
J Gynecol Obstet Hum Reprod;
52(3): 102537, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36669644
11.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Circ Genom Precis Med;
16(1): e003672, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36580316
12.
Transumbilical single-access laparoscopic perforated gastric ulcer repair.
Surg Innov;
19(2): 130-3, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22025424
13.
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Orphanet J Rare Dis;
14(1): 288, 2019 12 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31829210
14.
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.
Neuroradiol J;
28(3): 289-93, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-26246098
15.
Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy.
Circ Genom Precis Med;
11(9): e002241, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30354334
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