These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 related articles for article (PubMed ID: 32702406)

  • 1. Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome.
    Maya I; Kahana S; Agmon-Fishman I; Klein C; Matar R; Berger R; Shohat M; Basel-Salmon L; Sharony R; Sagi-Dain L
    Eur J Med Genet; 2020 Oct; 63(10):104008. PubMed ID: 32702406
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.
    Hu L; Li H; Sun G; Wu K; Luan Z; Xiang Y; Tang S
    Mol Genet Genomic Med; 2021 Apr; 9(4):e1638. PubMed ID: 33638605
    [TBL] [Abstract][Full Text] [Related]  

  • 3. FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
    Yang S; Li Z
    Connect Tissue Res; 2024 May; 65(3):214-225. PubMed ID: 38602424
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.
    Kloth K; Neu A; Rau I; Hülsemann W; Kutsche K; Volk AE
    Eur J Med Genet; 2021 Mar; 64(3):104161. PubMed ID: 33571691
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.
    Lavillaureix A; Heide S; Chantot-Bastaraud S; Marey I; Keren B; Grigorescu R; Jouannic JM; Gelot A; Whalen S; Héron D; Siffroi JP
    Clin Genet; 2017 Nov; 92(5):556-558. PubMed ID: 28762477
    [No Abstract]   [Full Text] [Related]  

  • 6. Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
    Deng H; Lu Q; Xu H; Deng X; Yuan L; Yang Z; Guo Y; Lin Q; Xiao J; Guan L; Song Z
    PLoS One; 2016; 11(5):e0155908. PubMed ID: 27196565
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly].
    Wang J; Xia Y; Wang Y; Yang F; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 May; 37(5):497-500. PubMed ID: 32335871
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A clinical scoring system for congenital contractural arachnodactyly.
    Meerschaut I; De Coninck S; Steyaert W; Barnicoat A; Bayat A; Benedicenti F; Berland S; Blair EM; Breckpot J; de Burca A; Destrée A; García-Miñaúr S; Green AJ; Hanna BC; Keymolen K; Koopmans M; Lederer D; Lees M; Longman C; Lynch SA; Male AM; McKenzie F; Migeotte I; Mihci E; Nur B; Petit F; Piard J; Plasschaert FS; Rauch A; Ribaï P; Pacheco IS; Stanzial F; Stolte-Dijkstra I; Valenzuela I; Varghese V; Vasudevan PC; Wakeling E; Wallgren-Pettersson C; Coucke P; De Paepe A; De Wolf D; Symoens S; Callewaert B
    Genet Med; 2020 Jan; 22(1):124-131. PubMed ID: 31316167
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.
    Zhang C; Qiao F; Cheng Q; Luo C; Zhang Q; Hu P; Xu Z
    Biochem Genet; 2024 Aug; 62(4):2495-2503. PubMed ID: 37962692
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.
    Guo X; Song C; Shi Y; Li H; Meng W; Yuan Q; Xue J; Xie J; Liang Y; Yuan Y; Yu B; Wang H; Chen Y; Qi L; Li X
    BMC Med Genet; 2016 Dec; 17(1):91. PubMed ID: 27912749
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
    Callewaert BL; Loeys BL; Ficcadenti A; Vermeer S; Landgren M; Kroes HY; Yaron Y; Pope M; Foulds N; Boute O; Galán F; Kingston H; Van der Aa N; Salcedo I; Swinkels ME; Wallgren-Pettersson C; Gabrielli O; De Backer J; Coucke PJ; De Paepe AM
    Hum Mutat; 2009 Mar; 30(3):334-41. PubMed ID: 19006240
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis.
    Inbar-Feigenberg M; Meirowitz N; Nanda D; Toi A; Okun N; Chitayat D
    Ultrasound Obstet Gynecol; 2014 Oct; 44(4):486-90. PubMed ID: 24585410
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.
    You G; Zu B; Wang B; Wang Z; Xu Y; Fu Q
    Int J Mol Sci; 2017 Apr; 18(4):. PubMed ID: 28379158
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.
    Park ES; Putnam EA; Chitayat D; Child A; Milewicz DM
    Am J Med Genet; 1998 Jul; 78(4):350-5. PubMed ID: 9714438
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.
    Takeda N; Morita H; Fujita D; Inuzuka R; Taniguchi Y; Imai Y; Hirata Y; Komuro I
    Am J Med Genet A; 2015 Oct; 167A(10):2382-7. PubMed ID: 25975422
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
    Najafi A; Caspar SM; Meienberg J; Rohrbach M; Steinmann B; Matyas G
    Clin Genet; 2020 Feb; 97(2):235-245. PubMed ID: 31506931
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly.
    Gürler AI; Yüksel Z; Karaer K
    Clin Dysmorphol; 2018 Jul; 27(3):109-111. PubMed ID: 29864108
    [No Abstract]   [Full Text] [Related]  

  • 18. A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis.
    Li J; Wang Y; Zhu X; Nie Y; Kuo Y; Guan S; Huang J; Lian Y; Zhao Y; Li R; Wei Y; Qiao J; Yan L
    J Genet Genomics; 2020 May; 47(5):281-284. PubMed ID: 32747207
    [No Abstract]   [Full Text] [Related]  

  • 19. Congenital contractural arachnodactyly (Beals syndrome).
    Tunçbilek E; Alanay Y
    Orphanet J Rare Dis; 2006 Jun; 1():20. PubMed ID: 16740166
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly].
    Tan X; Leng X; Tao D; Yang Y; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 May; 39(5):522-525. PubMed ID: 35598270
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.