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 *

138 related articles for article (PubMed ID: 38958168)

  • 1. Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.
    Han D; Wang Z; Chen X; Liu Z; Yang Z; Chen Y; Tian P; Li J; Wang Z
    Mol Genet Genomic Med; 2024 Jul; 12(7):e2482. PubMed ID: 38958168
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.
    Karaoglan M; Nacarkahya G; Aytac EH; Keskin M
    Eur J Pediatr; 2024 Aug; 183(8):3219-3232. PubMed ID: 38700693
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.
    Wang J; Yan Y; Chen J; Gong L; Zhang Y; Yuan M; Cui B; Wang Y
    Mol Biol Rep; 2016 Nov; 43(11):1227-1232. PubMed ID: 27558095
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
    Loeys B; Nuytinck L; Delvaux I; De Bie S; De Paepe A
    Arch Intern Med; 2001 Nov; 161(20):2447-54. PubMed ID: 11700157
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel
    Yao X; Wu J; Chen J
    Ann Clin Lab Sci; 2019 Sep; 49(4):539-545. PubMed ID: 31471346
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
    Li J; Lu C; Wu W; Liu Y; Wang R; Si N; Meng X; Zhang S; Zhang X
    Sci China Life Sci; 2019 Dec; 62(12):1630-1637. PubMed ID: 31098894
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.
    Li D; Yu J; Gu F; Pang X; Ma X; Li R; Liu N; Ma X
    Genet Test; 2008 Jun; 12(2):325-30. PubMed ID: 18471089
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. High-Throughput Genomics Identify Novel
    Zodanu GKE; Hwang JH; Mehta Z; Sisniega C; Barsegian A; Kang X; Biniwale R; Si MS; Satou GM; Halnon N; Ucla Congenital Heart Defect BioCore Faculty ; Grody WW; Van Arsdell GS; Nelson SF; Touma M
    Int J Mol Sci; 2024 May; 25(10):. PubMed ID: 38791509
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family.
    Li Y; Xu J; Chen M; Du B; Li Q; Xing Q; Zhang Y
    Clin Chim Acta; 2016 Sep; 460():102-6. PubMed ID: 27353645
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
    Lin M; Liu Z; Liu G; Zhao S; Li C; Chen W; Coban Akdemir Z; Lin J; Song X; Wang S; Xu Q; Zhao Y; Wang L; Zhang Y; Yan Z; Liu S; Liu J; Chen Y; Zuo Y; Yang X; Sun T; Yang XZ; Niu Y; Li X; You W; Qiu B; Ding C; Liu P; Zhang S; Carvalho CMB; Posey JE; Qiu G; ; Lupski JR; Wu Z; Zhang J; Wu N
    Mol Genet Genomic Med; 2020 Jan; 8(1):e1023. PubMed ID: 31774634
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
    Loeys B; De Backer J; Van Acker P; Wettinck K; Pals G; Nuytinck L; Coucke P; De Paepe A
    Hum Mutat; 2004 Aug; 24(2):140-6. PubMed ID: 15241795
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.