275 related articles for article (PubMed ID: 34918981)
1. Exome Sequencing Reveals Novel
Salih MA; Hamad MH; Savarese M; Alorainy IA; Al-Jarallah AS; Alkhalidi H; AlQudairy H; Albader A; Alotaibi AJ; Alsagob M; Al-Bakheet A; Colak D; Udd B; Kaya N
Genet Test Mol Biomarkers; 2021 Dec; 25(12):757-764. PubMed ID: 34918981
[No Abstract] [Full Text] [Related]
2. Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
Khan A; Wang R; Han S; Umair M; Abbas S; Khan MI; Alshabeeb MA; Alfadhel M; Zhang X
BMC Med Genet; 2019 Oct; 20(1):166. PubMed ID: 31664938
[TBL] [Abstract][Full Text] [Related]
3. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Bryen SJ; Ewans LJ; Pinner J; MacLennan SC; Donkervoort S; Castro D; Töpf A; O'Grady G; Cummings B; Chao KR; Weisburd B; Francioli L; Faiz F; Bournazos AM; Hu Y; Grosmann C; Malicki DM; Doyle H; Witting N; Vissing J; Claeys KG; Urankar K; Beleza-Meireles A; Baptista J; Ellard S; Savarese M; Johari M; Vihola A; Udd B; Majumdar A; Straub V; Bönnemann CG; MacArthur DG; Davis MR; Cooper ST
Hum Mutat; 2020 Feb; 41(2):403-411. PubMed ID: 31660661
[TBL] [Abstract][Full Text] [Related]
4. Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report.
Mojbafan M; Nojehdeh ST; Rahiminejad F; Nilipour Y; Tonekaboni SH; Zeinali S
BMC Med Genet; 2020 Apr; 21(1):77. PubMed ID: 32293312
[TBL] [Abstract][Full Text] [Related]
5. A homozygous TTN gene variant associated with lethal congenital contracture syndrome.
Chervinsky E; Khayat M; Soltsman S; Habiballa H; Elpeleg O; Shalev S
Am J Med Genet A; 2018 Apr; 176(4):1001-1005. PubMed ID: 29575618
[TBL] [Abstract][Full Text] [Related]
6. Two novel mutations in TTN of a patient with congenital myopathy: A case report.
Jang JY; Park Y; Jang DH; Jang JH; Ryu JS
Mol Genet Genomic Med; 2019 Aug; 7(8):e866. PubMed ID: 31332964
[TBL] [Abstract][Full Text] [Related]
7. Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.
Yu M; Zhu Y; Xie Z; Zheng Y; Xiao J; Zhang W; Nishino I; Yuan Y; Wang Z
Ann Clin Transl Neurol; 2019 Jul; 6(7):1311-1318. PubMed ID: 31353864
[TBL] [Abstract][Full Text] [Related]
8. Identification of four TTN variants in three families with fetal akinesia deformation sequence.
Fan L; Li H; Xu Y; Huang Y; Qian Y; Jin P; Shen X; Li Z; Liu M; Liang Y; Shen G; Dong M
BMC Med Genomics; 2024 Jun; 17(1):170. PubMed ID: 38937733
[TBL] [Abstract][Full Text] [Related]
9. Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing.
McDermott H; Henderson A; Robinson HK; Heaver R; Halahakoon C; Cox H; Naik S
Neuromuscul Disord; 2021 Aug; 31(8):783-787. PubMed ID: 34303570
[TBL] [Abstract][Full Text] [Related]
10. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
Perić S; Glumac JN; Töpf A; Savić-Pavićević D; Phillips L; Johnson K; Cassop-Thompson M; Xu L; Bertoli M; Lek M; MacArthur D; Brkušanin M; Milenković S; Rašić VM; Banko B; Maksimović R; Lochmüller H; Stojanović VR; Straub V
Eur J Hum Genet; 2017 May; 25(5):572-581. PubMed ID: 28295036
[TBL] [Abstract][Full Text] [Related]
11. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
Izumi R; Niihori T; Aoki Y; Suzuki N; Kato M; Warita H; Takahashi T; Tateyama M; Nagashima T; Funayama R; Abe K; Nakayama K; Aoki M; Matsubara Y
J Hum Genet; 2013 May; 58(5):259-66. PubMed ID: 23446887
[TBL] [Abstract][Full Text] [Related]
12. Titin mutation segregates with hereditary myopathy with early respiratory failure.
Pfeffer G; Elliott HR; Griffin H; Barresi R; Miller J; Marsh J; Evilä A; Vihola A; Hackman P; Straub V; Dick DJ; Horvath R; Santibanez-Koref M; Udd B; Chinnery PF
Brain; 2012 Jun; 135(Pt 6):1695-713. PubMed ID: 22577215
[TBL] [Abstract][Full Text] [Related]
13. A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.
Li L; Bainbridge MN; Tan Y; Willerson JT; Marian AJ
Circ Res; 2017 Mar; 120(7):1084-1090. PubMed ID: 28223422
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype correlations in recessive titinopathies.
Savarese M; Vihola A; Oates EC; Barresi R; Fiorillo C; Tasca G; Jokela M; Sarkozy A; Luo S; Díaz-Manera J; Ehrstedt C; Rojas-García R; Sáenz A; Muelas N; Lonardo F; Fodstad H; Qureshi T; Johari M; Välipakka S; Luque H; Petiot P; de Munain AL; Pane M; Mercuri E; Torella A; Nigro V; Astrea G; Santorelli FM; Bruno C; Kuntzer T; Illa I; Vílchez JJ; Julien C; Ferreiro A; Malandrini A; Zhao CB; Casar-Borota O; Davis M; Muntoni F; Hackman P; Udd B
Genet Med; 2020 Dec; 22(12):2029-2040. PubMed ID: 32778822
[TBL] [Abstract][Full Text] [Related]
15. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau C; Bonnemann CG; Julien C; Kho AL; Marks H; Talim B; Maury P; Arne-Bes MC; Uro-Coste E; Alexandrovich A; Vihola A; Schafer S; Kaufmann B; Medne L; Hübner N; Foley AR; Santi M; Udd B; Topaloglu H; Moore SA; Gotthardt M; Samuels ME; Gautel M; Ferreiro A
Hum Mol Genet; 2014 Feb; 23(4):980-91. PubMed ID: 24105469
[TBL] [Abstract][Full Text] [Related]
16. Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.
Rich KA; Moscarello T; Siskind C; Brock G; Tan CA; Vatta M; Winder TL; Elsheikh B; Vicini L; Tucker B; Palettas M; Hershberger RE; Kissel JT; Morales A; Roggenbuck J
Mol Genet Genomic Med; 2020 Oct; 8(10):e1460. PubMed ID: 32815318
[TBL] [Abstract][Full Text] [Related]
17. A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
Harris E; Töpf A; Vihola A; Evilä A; Barresi R; Hudson J; Hackman P; Herron B; MacArthur D; Lochmüller H; Bushby K; Udd B; Straub V
Neuromuscul Disord; 2017 Nov; 27(11):1009-1017. PubMed ID: 28716623
[TBL] [Abstract][Full Text] [Related]
18. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Jelani M; Kang C; Mohamoud HS; Al-Rehaili R; Almramhi MM; Serafi R; Yang H; Al-Aama JY; Naeem M; Alkhiary YM
Arch Oral Biol; 2016 Jul; 67():28-33. PubMed ID: 27019138
[TBL] [Abstract][Full Text] [Related]
19. The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
Perrin A; Juntas Morales R; Rivier F; Cances C; Walther-Louvier U; Van Goethem C; Thèze C; Lacourt D; Pégeot H; Zenagui R; Uro-Coste E; Leboucq N; Malfatti E; Delaby C; Lehmann S; Rigau V; Koenig M; Cossée M
Neuromuscul Disord; 2020 Nov; 30(11):877-887. PubMed ID: 33127292
[TBL] [Abstract][Full Text] [Related]
20. Whole-exome sequencing identified compound heterozygous variants in the
Mahdavi M; Mohsen-Pour N; Maleki M; Hesami M; Naderi N; Houshmand G; Rasouli Jazi HR; Shahzadi H; Kalayinia S
Cardiol Young; 2021 Nov; ():1-6. PubMed ID: 34782032
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]