316 related articles for article (PubMed ID: 32431097)
1. Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.
Bitarafan F; Razmara E; Khodaeian M; Keramatipour M; Kalhor A; Jafarinia E; Garshasbi M
Mol Genet Genomic Med; 2020 Aug; 8(8):e1274. PubMed ID: 32431097
[TBL] [Abstract][Full Text] [Related]
2. Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Nayak SS; Schneeberger PE; Patil SJ; Arun KM; Suresh PV; Kiran VS; Siddaiah S; Maiya S; Venkatachalagupta SK; Kausthubham N; Kortüm F; Rau I; Wey-Fabrizius A; Van Den Heuvel L; Meester J; Van Laer L; Shukla A; Loeys B; Girisha KM; Kutsche K
Sci Rep; 2021 Jan; 11(1):764. PubMed ID: 33436942
[TBL] [Abstract][Full Text] [Related]
3. Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome.
De Cario R; Sticchi E; Lucarini L; Attanasio M; Nistri S; Marcucci R; Pepe G; Giusti B
J Vasc Surg; 2018 Jul; 68(1):225-233.e5. PubMed ID: 28847661
[TBL] [Abstract][Full Text] [Related]
4. Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.
Gong B; Yang L; Wang Q; Ye Z; Guo X; Yang C; Hao F; Shi Y; Huang Y; Qu C; Yang Z
Mol Genet Genomic Med; 2019 Apr; 7(4):e00594. PubMed ID: 30838813
[TBL] [Abstract][Full Text] [Related]
5. Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
Disabella E; Grasso M; Marziliano N; Ansaldi S; Lucchelli C; Porcu E; Tagliani M; Pilotto A; Diegoli M; Lanzarini L; Malattia C; Pelliccia A; Ficcadenti A; Gabrielli O; Arbustini E
Eur J Hum Genet; 2006 Jan; 14(1):34-8. PubMed ID: 16251899
[TBL] [Abstract][Full Text] [Related]
6. Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.
Cao Y; Tan H; Li Z; Linpeng S; Long X; Liang D; Wu L
Int Heart J; 2018 Sep; 59(5):1059-1068. PubMed ID: 30101859
[TBL] [Abstract][Full Text] [Related]
7. FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.
Madar L; Szakszon K; Pfliegler G; Szabó GP; Brúgós B; Ronen N; Papp J; Zahuczky K; Szakos E; Fekete G; Oláh É; Koczok K; Balogh I
J Biotechnol; 2019 Aug; 301():105-111. PubMed ID: 31163209
[TBL] [Abstract][Full Text] [Related]
8. Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.
Ma M; Li Z; Wang DW; Wei X
Mol Med Rep; 2016 Jul; 14(1):151-8. PubMed ID: 27175573
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci L; Luciano S; Salehi LB; Gigante L; Conte C; Longo G; Ferradini V; Piumelli N; Brancati F; Ruvolo G; Novelli G; Sangiuolo F
Clin Chim Acta; 2020 Feb; 501():154-164. PubMed ID: 31730815
[TBL] [Abstract][Full Text] [Related]
10. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G; Arnold E; Carrel T; Baumgartner D; Boileau C; Berger W; Steinmann B
Hum Mutat; 2006 Aug; 27(8):760-9. PubMed ID: 16791849
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.
Zhang L; Gao LG; Zhang M; Zhou XL
Mol Vis; 2012; 18():55-63. PubMed ID: 22259224
[TBL] [Abstract][Full Text] [Related]
12. Identification of gross deletions in FBN1 gene by MLPA.
Yang H; Ma Y; Luo M; Zhao K; Zhang Y; Zhu G; Sun X; Luo F; Wang L; Shu C; Zhou Z
Hum Genomics; 2018 Oct; 12(1):46. PubMed ID: 30286810
[TBL] [Abstract][Full Text] [Related]
13. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud P; Hanna N; Aubart M; Leheup B; Dupuis-Girod S; Naudion S; Lacombe D; Milleron O; Odent S; Faivre L; Bal L; Edouard T; Collod-Beroud G; Langeois M; Spentchian M; Gouya L; Jondeau G; Boileau C
J Med Genet; 2017 Feb; 54(2):100-103. PubMed ID: 27582083
[TBL] [Abstract][Full Text] [Related]
14. Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.
Overwater E; Efrat R; Barge-Schaapveld DQCM; Lakeman P; Weiss MM; Maugeri A; van Tintelen JP; Houweling AC
Mol Genet Genomic Med; 2019 Feb; 7(2):e00518. PubMed ID: 30485715
[TBL] [Abstract][Full Text] [Related]
15. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
Chung BH; Lam ST; Tong TM; Li SY; Lun KS; Chan DH; Fok SF; Or JS; Smith DK; Yang W; Lau YL
Am J Med Genet A; 2009 Jul; 149A(7):1452-9. PubMed ID: 19533785
[TBL] [Abstract][Full Text] [Related]
16. A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q; Deng Y; Yang Y; Liu H
BMC Pediatr; 2016 Apr; 16():60. PubMed ID: 27138491
[TBL] [Abstract][Full Text] [Related]
17. The Molecular Genetics of Marfan Syndrome.
Du Q; Zhang D; Zhuang Y; Xia Q; Wen T; Jia H
Int J Med Sci; 2021; 18(13):2752-2766. PubMed ID: 34220303
[TBL] [Abstract][Full Text] [Related]
18. An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.
Gezdirici A; Teralı K; Gülec EY; Bornaun H; Dogan M; Eröz R
J Hum Genet; 2021 Jul; 66(7):647-657. PubMed ID: 33483584
[TBL] [Abstract][Full Text] [Related]
19. [Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].
Rong J; Dong S; Wang C; He S; Luo J; Li M; Deng Q; Yan M
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1107-1110. PubMed ID: 31703137
[TBL] [Abstract][Full Text] [Related]
20. Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.
Yang H; Luo M; Chen Q; Fu Y; Zhang J; Qian X; Sun X; Fan Y; Zhou Z; Chang Q
Clin Chim Acta; 2016 Aug; 459():30-35. PubMed ID: 27234404
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
