336 related articles for article (PubMed ID: 25706677)
1. Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.
Long PA; Evans JM; Olson TM
Am J Med Genet A; 2015 Apr; 167A(4):886-90. PubMed ID: 25706677
[TBL] [Abstract][Full Text] [Related]
2. Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome.
Lombardo B; D'Argenio V; Monda E; Vitale A; Caiazza M; Sacchetti L; Pastore L; Limongelli G; Frisso G; Mazzaccara C
Mol Genet Genomic Med; 2020 Jul; 8(7):e1260. PubMed ID: 32396277
[TBL] [Abstract][Full Text] [Related]
3. Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.
Casey J; McGettigan P; Brosnahan D; Curtis E; Treacy E; Ennis S; Lynch SA
Eur J Med Genet; 2014 Feb; 57(2-3):55-9. PubMed ID: 24503146
[TBL] [Abstract][Full Text] [Related]
4. Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy.
Nerakh G; Ranganath P
Indian J Pediatr; 2019 Mar; 86(3):296-298. PubMed ID: 30484169
[TBL] [Abstract][Full Text] [Related]
5. Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.
Mahamid J; Lorber A; Horovitz Y; Shalev SA; Collin GB; Naggert JK; Marshall JD; Spiegel R
Pediatr Cardiol; 2013 Feb; 34(2):455-8. PubMed ID: 22447358
[TBL] [Abstract][Full Text] [Related]
6. Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.
Zhao Y; Wang LK; Eskin A; Kang X; Fajardo VM; Mehta Z; Pineles S; Schmidt RJ; Nagiel A; Satou G; Garg M; Federman M; Reardon LC; Lee SL; Biniwale R; Grody WW; Halnon N; Khanlou N; Quintero-Rivera F; Alejos JC; Nakano A; Fishbein GA; Van Arsdell GS; Nelson SF; Touma M
J Mol Med (Berl); 2021 Nov; 99(11):1623-1638. PubMed ID: 34387706
[TBL] [Abstract][Full Text] [Related]
7. De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy.
Long PA; Zimmermann MT; Kim M; Evans JM; Xu X; Olson TM
Hum Genet; 2016 Aug; 135(8):909-917. PubMed ID: 27234373
[TBL] [Abstract][Full Text] [Related]
8. Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.
Hollander SA; Alsaleh N; Ruzhnikov M; Jensen K; Rosenthal DN; Stevenson DA; Manning M
Am J Med Genet A; 2017 Jun; 173(6):1687-1689. PubMed ID: 28407410
[TBL] [Abstract][Full Text] [Related]
9. Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.
Das Bhowmik A; Gupta N; Dalal A; Kabra M
Obes Res Clin Pract; 2017; 11(2):241-246. PubMed ID: 27665122
[TBL] [Abstract][Full Text] [Related]
10. Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.
Wang C; Luo X; Wang Y; Liu Z; Wu S; Wang S; Lan X; Xu Q; Xu W; Yuan F; Wang A; Zeng F; Jia J; Chen Y
Intern Med; 2021 Dec; 60(23):3721-3728. PubMed ID: 34148947
[TBL] [Abstract][Full Text] [Related]
11. Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.
Long PA; Evans JM; Olson TM
J Cardiovasc Dev Dis; 2017 Aug; 4(3):. PubMed ID: 29367541
[TBL] [Abstract][Full Text] [Related]
12. New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.
Cheng WY; Ma MJ; Yuan SQ; Qi XL; Rong WN; Sheng XL
BMC Ophthalmol; 2022 Sep; 22(1):386. PubMed ID: 36162988
[TBL] [Abstract][Full Text] [Related]
13. Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
Long PA; Larsen BT; Evans JM; Olson TM
J Am Heart Assoc; 2015 Dec; 4(12):. PubMed ID: 26656454
[TBL] [Abstract][Full Text] [Related]
14. A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L; Miertus J; Maltese PE; Bressan S; De Antoni L; Podracká L; Piteková L; Rísová V; Mällo M; Jaakson K; Joost K; Colombo L; Bertelli M
BMC Med Genet; 2020 Sep; 21(1):173. PubMed ID: 32867697
[TBL] [Abstract][Full Text] [Related]
15. Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.
Dedeoglu S; Dede E; Oztunc F; Gedikbasi A; Yesil G; Dedeoglu R
Orphanet J Rare Dis; 2022 Sep; 17(1):359. PubMed ID: 36109815
[TBL] [Abstract][Full Text] [Related]
16. A PLN nonsense variant causes severe dilated cardiomyopathy in a novel autosomal recessive inheritance mode.
Li Z; Chen P; Xu J; Yu B; Li X; Wang DW; Wang DW
Int J Cardiol; 2019 Mar; 279():122-125. PubMed ID: 30638982
[TBL] [Abstract][Full Text] [Related]
17. Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.
Louw JJ; Corveleyn A; Jia Y; Iqbal S; Boshoff D; Gewillig M; Peeters H; Moerman P; Devriendt K
Eur J Med Genet; 2014 Sep; 57(9):532-5. PubMed ID: 24972238
[TBL] [Abstract][Full Text] [Related]
18. Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
Katagiri S; Yoshitake K; Akahori M; Hayashi T; Furuno M; Nishino J; Ikeo K; Tsuneoka H; Iwata T
Mol Vis; 2013; 19():2393-406. PubMed ID: 24319333
[TBL] [Abstract][Full Text] [Related]
19. A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
Maltese PE; Iarossi G; Ziccardi L; Colombo L; Buzzonetti L; Crinò A; Tezzele S; Bertelli M
Eur J Med Genet; 2018 Feb; 61(2):79-83. PubMed ID: 29079548
[TBL] [Abstract][Full Text] [Related]
20. Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
Nasser F; Weisschuh N; Maffei P; Milan G; Heller C; Zrenner E; Kohl S; Kuehlewein L
Acta Ophthalmol; 2018 Jun; 96(4):e445-e454. PubMed ID: 29193673
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
