PubMed for id: 347714

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25502304,36293084,35082396,34948281,34580891,33626194,33288880,32532510,32504006,30794915,30610051,29901616,29551499,21073837,18028894,11788824,10051295,26604122,24355456,23660050,19254666,37925523,37128901,30690923,29073955,20206892,19446900,18241046,17198909,16107323,16055927,15786726,12359139,10850534,38612618,38605029,38584145,38566066,38561731,38556571,38556335,38539067,38538656,38533937,38512728,38509711,38504005,38498570,38491417,38488519,38478604,38474301,38474073,38474032,38448817,38438854,38438248,38436644,38433049,38431726,38416785,38412038,38404031,38397190,38395995,38395518,38388441,38387507,38386349,38382768,38382600,38381767,38378296,38363615,38363107,38360096,38359746,38358893,38355526,38347519,38336121,38334670,38334626,38310240,38309622,38309590,38301889,38299365,38288614,38288598,38284444,38284443,38275751,38275586,38272033,38265287,38256355,38255001,38254943,38254195,38243143,38241812,38234087,38232626,38226618,38224851,38221511,38220873,38218922,38212463,38206981,38206729,38201239,38185631,38185344,38184690,38183888,38181271,38177536,38171882,38169915,38168645,38168558,38167524,38167099,38165464,38161092,38154558,38150872,38146249,38145999,38142971,38141360,38129817,38127107,38127011,38123563,38123514,38123004,38116875,38115240,38114927,38114601,38113297,38112376,38108245,38090549,38087302,38066676,38062873,38062830,38062477,38059363,38057808,38056933,38055534,38052926,38052212,38050671,38050058,38050027,38042913,38041702,38031457,38030119,38017368,38017281,38016030,38015629,38006882,38003559,38002325,37999665,37996554,37994141,37994137,37990461,37984903,37982893,37979716,37976180,37973666,37967988,37967839,37964758,37963970,37962957,37958923,37958665,37956966,37952748,37947605,37945814,37945687,37944780,37944352,37938627,37936231,37934770,37932969,37932845,37928880,37923788,37921229,37920080,37917582,37916856,37914990,37907725,37905768,37905384,37904629,37904201,37904158,37903135,37894940,37894719,37893447,37890031,37883426,37882150,37879952,37876353,37872485,37872089,37864482,37859607,37857609,37852321,37844423,37844118,37842925,37840136,37830560,37827362,37822152,37819607,37802370,37802072,37801635,37796701,37796408,37794383,37791815,37788487,37787989,37784143,37780996,37774964,37774003,37773826,37772385,37772343,37771083,37768331,37767697,37759719,37756583,37755470,37753091,37752589,37752166,37750583,37750536,37748331,37747279,37747073,37743617,37723491,37721634,37716854,37716433,37713669,37710348,37705740,37702310,37702215,37698259,37697026,37695357,37686378,37686377,37684436,37683843,37679968,37671549,37659618,37652374,37652141,37652022,37651922,37651221,37646638,37641966,37629676,37626095,37625794,37607905,37607233,37606047,37593875,37585105,37578232,37572991,37569724,37568080,37567658,37566109,37565978,37563454,37562486,37562008,37561591,37556302,37551870,37550517,37548861,37535990,37532724,37532513,37532487,37529955,37529930,37529838,37526719,37526028,37520255,37512058,37497761,37492967,37488325,37487022,37483596,37477868,37477701,37477494,37471646,37468692,37468587,37466107,37463913,37462883,37461109,37460987,37460898,37457373,37454254,37451219,37449401,37446344,37446137,37445978,37443356,37443332,37429521,37423841,37417875,37410597,37408239,37406964,37399346,37394473,37393064,37391705,37385787,37385782,37385335,37374362,37373547,37373332,37373035,37372424,37372357,37365150,37349842,37349314,37348923,37345845,37345726,37340830,37335933,37326827,37325898,37315422,37315111,37313752,37311512,37310356,37296576,37294932,37291118,37288540,37286519,37282787,37279791,37278665,37273165,37271035,37269378,37268658,37267769,37264195,37261389,37248298,37246080,37240049,37240001,37239988,37239348,37230314,37227147,37226836,37225358,37219949,37217929,37212422,37209657,37202608,37199186,37198994,37198425,37196916,37191081,37190906,37189393,37186568,37183561,37176125,37175952,37175793,37171063,37162557,37160697,37157232,37156050,37143080,37138538,37130116,37128911,37128663,37125775,37122209,37116048,37108502,37106349,37100242,37097178,37092460,37086582,37084258,37081014,37080962,37072338,37067297,37061734,37060436,37059416,37058558,37058101,37057673,37054880,37047652,37041421,37038896,37036839,37032351,37030336,37029304,37024942,37022217,37010012,37004604,37002535,37001142,36999555,36996799,36990700,36988860,36983025,36982963,36981019,36976816,36974722,36971006,36970983,36963422,36951072,36949638,36948385,36946615,36939901,36939732,36934006,36928260,36927816,36927560,36927384,36918127,36918063,36917398[uid]

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Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.

Finsterer J, Stöllberger C, Sehnal E, Rehder H, Laccone F. Finsterer J, et al. Cardiology. 2015;130(1):48-51. doi: 10.1159/000368222. Epub 2014 Dec 11. Cardiology. 2015. PMID: 25502304

Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family.

Sedaghat-Hamedani F, Rebs S, Kayvanpour E, Zhu C, Amr A, Müller M, Haas J, Wu J, Steinmetz LM, Ehlermann P, Streckfuss-Bömeke K, Frey N, Meder B. Sedaghat-Hamedani F, et al. Int J Mol Sci. 2022 Oct 13;23(20):12230. doi: 10.3390/ijms232012230. Int J Mol Sci. 2022. PMID: 36293084 Free PMC article.

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant.

Yuen M, Worgan L, Iwanski J, Pappas CT, Joshi H, Churko JM, Arbuckle S, Kirk EP, Zhu Y, Roscioli T, Gregorio CC, Cooper ST. Yuen M, et al. Eur J Hum Genet. 2022 Apr;30(4):450-457. doi: 10.1038/s41431-022-01043-8. Epub 2022 Jan 26. Eur J Hum Genet. 2022. PMID: 35082396 Free PMC article.

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ, Couce ML. Barbosa-Gouveia S, et al. Int J Mol Sci. 2021 Dec 15;22(24):13484. doi: 10.3390/ijms222413484. Int J Mol Sci. 2021. PMID: 34948281 Free PMC article.

Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.

Machiraju P, Degtiarev V, Patel D, Hazari H, Lowry RB, Bedard T, Sinasac D, Brundler MA, Greenway SC, Khan A. Machiraju P, et al. J Inherit Metab Dis. 2022 Mar;45(2):366-376. doi: 10.1002/jimd.12441. Epub 2021 Oct 7. J Inherit Metab Dis. 2022. PMID: 34580891

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.

Tao J, Duan J, Pi X, Wang H, Li S. Tao J, et al. J Clin Lab Anal. 2021 Apr;35(4):e23736. doi: 10.1002/jcla.23736. Epub 2021 Feb 24. J Clin Lab Anal. 2021. PMID: 33626194 Free PMC article.

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

Osborn DPS, Emrahi L, Clayton J, Tabrizi MT, Wan AYB, Maroofian R, Yazdchi M, Garcia MLE, Galehdari H, Hesse C, Shariati G, Mazaheri N, Sedaghat A, Goullée H, Laing N, Jamshidi Y, Tajsharghi H. Osborn DPS, et al. Genet Med. 2021 Apr;23(4):787-792. doi: 10.1038/s41436-020-01028-2. Epub 2020 Dec 8. Genet Med. 2021. PMID: 33288880 Free PMC article.

Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews.

Oz S, Yonath H, Visochyk L, Ofek E, Landa N, Reznik-Wolf H, Ortiz-Genga M, Monserrat L, Ben-Gal T, Goitein O, Beinart R, Glikson M, Freimark D, Pras E, Arad M, Nof E. Oz S, et al. Int J Cardiol. 2020 Oct 15;317:133-138. doi: 10.1016/j.ijcard.2020.04.005. Epub 2020 Apr 5. Int J Cardiol. 2020. PMID: 32532510 Free article.

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report.

Komaki R, Hashimoto Y, Mori-Yoshimura M, Oya Y, Takizawa H, Minami N, Nishino I, Aoki Y, Takahashi Y. Komaki R, et al. J Hum Genet. 2020 Oct;65(10):903-909. doi: 10.1038/s10038-020-0788-9. Epub 2020 Jun 5. J Hum Genet. 2020. PMID: 32504006 Free PMC article.

Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene.

Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E. Surikova Y, et al. Gene. 2019 May 20;697:159-164. doi: 10.1016/j.gene.2019.02.011. Epub 2019 Feb 19. Gene. 2019. PMID: 30794915

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