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Items: 1 to 20 of 107

1.

Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.

Tucker NR, McLellan MA, Hu D, Ye J, Parsons VA, Mills RW, Clauss S, Dolmatova E, Shea MA, Milan DJ, Scott NS, Lindsay M, Lubitz SA, Domian IJ, Stone JR, Lin H, Ellinor PT.

Circ Cardiovasc Genet. 2017 Dec;10(6). pii: e001780. doi: 10.1161/CIRCGENETICS.117.001780.

2.

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.

Schubert J, Tariq M, Geddes G, Kindel S, Miller EM, Ware SM.

Hum Mutat. 2018 Dec;39(12):2083-2096. doi: 10.1002/humu.23661. Epub 2018 Oct 22.

PMID:
30260051
3.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium, Gerull B.

Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8.

PMID:
26666891
4.

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.

Mouton JM, Pellizzon AS, Goosen A, Kinnear CJ, Herbst PG, Brink PA, Moolman-Smook JC.

Cardiovasc J Afr. 2015 Mar-Apr;26(2):63-9. doi: 10.5830/CVJA-2015-019.

5.

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.

Kiselev A, Vaz R, Knyazeva A, Khudiakov A, Tarnovskaya S, Liu J, Sergushichev A, Kazakov S, Frishman D, Smolina N, Pervunina T, Jorholt J, Sjoberg G, Vershinina T, Rudenko D, Arner A, Sejersen T, Lindstrand A, Kostareva A.

Hum Mutat. 2018 Sep;39(9):1161-1172. doi: 10.1002/humu.23559. Epub 2018 Jun 17.

PMID:
29858533
6.

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.

Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, Coto E, Astudillo A, Puente DA, Reguero JR, Álvarez V, Morís C, León D, Martín M, Puente XS, López-Otín C.

Nat Commun. 2014 Oct 29;5:5326. doi: 10.1038/ncomms6326.

PMID:
25351925
7.

Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.

Begay RL, Graw SL, Sinagra G, Asimaki A, Rowland TJ, Slavov DB, Gowan K, Jones KL, Brun F, Merlo M, Miani D, Sweet M, Devaraj K, Wartchow EP, Gigli M, Puggia I, Salcedo EE, Garrity DM, Ambardekar AV, Buttrick P, Reece TB, Bristow MR, Saffitz JE, Mestroni L, Taylor MRG.

JACC Clin Electrophysiol. 2018 Apr;4(4):504-514. doi: 10.1016/j.jacep.2017.12.003. Epub 2018 Feb 2.

8.

Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.

Wu W, Lu CX, Wang YN, Liu F, Chen W, Liu YT, Han YC, Cao J, Zhang SY, Zhang X.

J Am Heart Assoc. 2015 Jul 10;4(7). pii: e001879. doi: 10.1161/JAHA.115.001879.

9.

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L.

J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927.

10.

Titin mutation in familial restrictive cardiomyopathy.

Peled Y, Gramlich M, Yoskovitz G, Feinberg MS, Afek A, Polak-Charcon S, Pras E, Sela BA, Konen E, Weissbrod O, Geiger D, Gordon PM, Thierfelder L, Freimark D, Gerull B, Arad M.

Int J Cardiol. 2014 Jan 15;171(1):24-30. doi: 10.1016/j.ijcard.2013.11.037. Epub 2013 Nov 25.

PMID:
24315344
11.

A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.

Nozari A, Aghaei-Moghadam E, Zeinaloo A, Mollazadeh R, Majnoon MT, Alavi A, Ghasemi Firouzabadi S, Mohammadzadeh A, Banihashemi S, Nikzaban M, Najmabadi H, Behjati F.

Gene. 2018 Jun 15;659:160-167. doi: 10.1016/j.gene.2018.03.044. Epub 2018 Mar 15.

PMID:
29551499
12.

Letter by Ma et al Regarding Article, "Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy".

Ma Y, Huang J, Zhou Z.

Circ Genom Precis Med. 2018 Apr;11(4):e002117. doi: 10.1161/CIRCGEN.118.002117. No abstract available.

PMID:
29650767
13.

Response by Ma et al to Letter Regarding Article, "Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy".

Tucker NR, Ellinor PT.

Circ Genom Precis Med. 2018 Apr;11(4):e002140. doi: 10.1161/CIRCGEN.118.002140. No abstract available.

PMID:
29650770
14.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A.

Rev Neurol (Paris). 2016 Oct;172(10):594-606. doi: 10.1016/j.neurol.2016.07.017. Epub 2016 Sep 12. Review.

PMID:
27633507
15.

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.

Kaski JP, Syrris P, Burch M, Tomé-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM.

Heart. 2008 Nov;94(11):1478-84. doi: 10.1136/hrt.2007.134684. Epub 2008 May 8.

PMID:
18467357
16.

[Genotype-phenotype correlations of pathogenic variants in the FLNC gene].

Ader F, Villard E, Ledeuil C, Charron P, Richard P.

Med Sci (Paris). 2018 Nov;34 Hors série n°2:39-41. doi: 10.1051/medsci/201834s211. Epub 2018 Nov 12. French. No abstract available.

PMID:
30418145
17.

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.

Pruszczyk P, Kostera-Pruszczyk A, Shatunov A, Goudeau B, Dramiñska A, Takeda K, Sambuughin N, Vicart P, Strelkov SV, Goldfarb LG, Kamiñska A.

Int J Cardiol. 2007 Apr 25;117(2):244-53. Epub 2006 Aug 4.

PMID:
16890305
18.

The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

Brodehl A, Gaertner-Rommel A, Klauke B, Grewe SA, Schirmer I, Peterschröder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, Paluszkiewicz L, Milting H.

Hum Mutat. 2017 Aug;38(8):947-952. doi: 10.1002/humu.23248. Epub 2017 Jun 21.

PMID:
28493373
19.

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E.

Circ Cardiovasc Genet. 2017 Apr;10(2). pii: e001584. doi: 10.1161/CIRCGENETICS.116.001584.

PMID:
28356264
20.

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Reinstein E, Gutierrez-Fernandez A, Tzur S, Bormans C, Marcu S, Tayeb-Fligelman E, Vinkler C, Raas-Rothschild A, Irge D, Landau M, Shohat M, Puente XS, Behar DM, Lopez-Otın C.

Eur J Hum Genet. 2016 Dec;24(12):1792-1796. doi: 10.1038/ejhg.2016.110. Epub 2016 Sep 7.

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