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 *

172 related articles for article (PubMed ID: 38715046)

  • 1. Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.
    Capecchi E; Villa R; Pini A; Iascone M; Messina L; Ajmone PF; Mosca F; Gangi S; Bedeschi MF
    Ital J Pediatr; 2024 May; 50(1):94. PubMed ID: 38715046
    [TBL] [Abstract][Full Text] [Related]  

  • 2. FBN1 contributing to familial congenital diaphragmatic hernia.
    Beck TF; Campeau PM; Jhangiani SN; Gambin T; Li AH; Abo-Zahrah R; Jordan VK; Hernandez-Garcia A; Wiszniewski WK; Muzny D; Gibbs RA; Boerwinkle E; Lupski JR; Lee B; Reardon W; Scott DA
    Am J Med Genet A; 2015 Apr; 167A(4):831-6. PubMed ID: 25736269
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.
    Piscopo A; Warner T; Nagy J; Nagrale V; Stence A; Guseva N; Bernat JA; Calhoun A
    Am J Med Genet A; 2024 Feb; 194(2):368-373. PubMed ID: 37840436
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders.
    Penpattharakul W; Pithukpakorn M
    J Med Assoc Thai; 2016 Jan; 99(1):34-9. PubMed ID: 27455822
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
    De Backer J
    Verh K Acad Geneeskd Belg; 2009; 71(6):335-71. PubMed ID: 20232788
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations.
    Lin J; Lin Y; Wang G
    BMC Med Genomics; 2023 May; 16(1):118. PubMed ID: 37245000
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
    Attanasio M; Pratelli E; Porciani MC; Evangelisti L; Torricelli E; Pellicanò G; Abbate R; Gensini GF; Pepe G
    Eur J Med Genet; 2013 Jul; 56(7):356-60. PubMed ID: 23684891
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Marfan syndrome.
    Milewicz DM; Braverman AC; De Backer J; Morris SA; Boileau C; Maumenee IH; Jondeau G; Evangelista A; Pyeritz RE
    Nat Rev Dis Primers; 2021 Sep; 7(1):64. PubMed ID: 34475413
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.
    Wu Y; Sun H; Wang J; Wang X; Gong M; Han L; He Y; Zhang H
    Biosci Rep; 2020 Dec; 40(12):. PubMed ID: 33200202
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel splicing mutation in Marfan syndrome.
    Zhao S; Duan Y; Huang F; Shi Q; Liu Q; Zhou Y
    Int J Legal Med; 2020 Nov; 134(6):2161-2166. PubMed ID: 32676886
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.
    Nam HK; Nam MH; Ha KS; Rhie YJ; Lee KH
    Ann Clin Lab Sci; 2017 Mar; 47(2):221-225. PubMed ID: 28442527
    [TBL] [Abstract][Full Text] [Related]  

  • 18.
    Wang JJ; Yu B; Sun Y; Song X; Wang DW; Li Z
    Genes (Basel); 2022 Oct; 13(10):. PubMed ID: 36292727
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Latest advances in the diagnosis and treatment of Marfan syndrome].
    Yang ST; Luo F
    Zhongguo Dang Dai Er Ke Za Zhi; 2022 Jul; 24(7):826-831. PubMed ID: 35894201
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Morgagni-Larrey anterior diaphragmatic hernias. Review of 13 cases].
    Alonso Arroyo V; Morcillo Azcárate J; Pérez Bertólez S; Soares Medina A; Vivas Colmenares G; Requena Díaz M; Roldán Pérez S; Matute de Cárdenas JA
    Cir Pediatr; 2017 Oct; 30(4):175-179. PubMed ID: 29266884
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.