Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

47 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.
Vanlander AV, Muiño Mosquera L, Panzer J, Deconinck T, Smet J, Seneca S, Van Dorpe J, Ferdinande L, Ceuterick-de Groote C, De Jonghe P, Van Coster R, Baets J. Vanlander AV, et al. Among authors: muino mosquera l. Mitochondrion. 2016 Mar;27:32-8. doi: 10.1016/j.mito.2016.02.001. Epub 2016 Feb 23. Mitochondrion. 2016. PMID: 26855408
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: muino mosquera l. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G. Caruana M, et al. Among authors: muino mosquera l. Eur J Med Genet. 2023 Jan;66(1):104673. doi: 10.1016/j.ejmg.2022.104673. Epub 2022 Nov 29. Eur J Med Genet. 2023. PMID: 36460281 Free article.
Analysis of the recovery phase after maximal exercise in children with repaired tetralogy of Fallot and the relationship with ventricular function.
Coomans I, De Kinder S, Van Belleghem H, De Groote K, Panzer J, De Wilde H, Muiño Mosquera L, François K, Bové T, Martens T, De Wolf D, Boone J, Vandekerckhove K. Coomans I, et al. Among authors: muino mosquera l. PLoS One. 2020 Dec 18;15(12):e0244312. doi: 10.1371/journal.pone.0244312. eCollection 2020. PLoS One. 2020. PMID: 33338081 Free PMC article.
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.
Meerschaut I, Steyaert W, Bové T, François K, Martens T, De Groote K, De Wilde H, Muiño Mosquera L, Panzer J, Vandekerckhove K, Moons L, Vermassen P, Symoens S, Coucke PJ, De Wolf D, Callewaert B. Meerschaut I, et al. Among authors: muino mosquera l. Genes (Basel). 2022 Jul 7;13(7):1214. doi: 10.3390/genes13071214. Genes (Basel). 2022. PMID: 35885997 Free PMC article.
Genetics in congenital heart disease. Are we ready for it?
De Backer J, Callewaert B, Muiño Mosquera L. De Backer J, et al. Among authors: muino mosquera l. Rev Esp Cardiol (Engl Ed). 2020 Nov;73(11):937-947. doi: 10.1016/j.rec.2020.05.019. Epub 2020 Jul 6. Rev Esp Cardiol (Engl Ed). 2020. PMID: 32646792 Review. English, Spanish.
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Among authors: muino mosquera l. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323665 Free article.
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.
Muiño-Mosquera L, Steijns F, Audenaert T, Meerschaut I, De Paepe A, Steyaert W, Symoens S, Coucke P, Callewaert B, Renard M, De Backer J. Muiño-Mosquera L, et al. Circ Genom Precis Med. 2018 Jun;11(6):e002039. doi: 10.1161/CIRCGEN.117.002039. Circ Genom Precis Med. 2018. PMID: 29875124
47 results