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A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
PLoS One. 2015 Jun 10;10(6):e0127903. doi: 10.1371/journal.pone.0127903. eCollection 2015.
PLoS One. 2015.
PMID: 26061005
Free PMC article.
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.
El Malti R, Liu H, Doray B, Thauvin C, Maltret A, Dauphin C, Gonçalves-Rocha M, Teboul M, Blanchet P, Roume J, Gronier C, Ducreux C, Veyrier M, Marçon F, Acar P, Lusson JR, Levy M, Beyler C, Vigneron J, Cordier-Alex MP, Heitz F, Sanlaville D, Bonnet D, Bouvagnet P.
El Malti R, et al.
Eur J Hum Genet. 2016 Feb;24(2):228-36. doi: 10.1038/ejhg.2015.105. Epub 2015 May 27.
Eur J Hum Genet. 2016.
PMID: 26014430
Free PMC article.
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Evidence for genetic heterogeneity in Carvajal syndrome.
Nehme N, El Malti R, Roux-Buisson N, Caignault JR, Bouvagnet P.
Nehme N, et al. Among authors: el malti r.
Cell Tissue Res. 2012 May;348(2):261-4. doi: 10.1007/s00441-012-1351-6. Epub 2012 Feb 17.
Cell Tissue Res. 2012.
PMID: 22350851
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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT.
Guimier A, et al. Among authors: el malti r.
Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5.
Nat Genet. 2015.
PMID: 26437028
Free PMC article.
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Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Janin A, Perouse de Montclos T, Nguyen K, Consolino E, Nadeau G, Rey G, Bouchot O, Blanchet P, Sabbagh Q, Cazeneuve C, El-Malti R, Morel E, Delinière A, Chevalier P, Millat G.
Janin A, et al. Among authors: el malti r.
Mol Diagn Ther. 2022 Sep;26(5):551-560. doi: 10.1007/s40291-022-00604-3. Epub 2022 Jul 15.
Mol Diagn Ther. 2022.
PMID: 35838873
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