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 *

208 related articles for article (PubMed ID: 35894201)

  • 1. [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]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 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 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]  

  • 8. Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.
    Motonaga T; Ohnishi Y; Okada S; Suzuki Y; Furuta T; Kawamura M; Okayama N; Suehiro Y; Hasegawa S
    Int Heart J; 2022 Jul; 63(4):777-781. PubMed ID: 35831148
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.
    Yoon SH; Kong Y
    Medicine (Baltimore); 2021 Feb; 100(6):e24301. PubMed ID: 33578525
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
    Sutherell J; Zarate Y; Tinkle BT; Markham LW; Cripe LH; Hyland JC; Witte D; Hopkin RJ; Hinton RB
    Congenit Heart Dis; 2007; 2(5):342-6. PubMed ID: 18377451
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.
    Al-Haggar M; Bakr A; Wahba Y; Coucke PJ; El-Hussini F; Hafez M; Eid R; Eid AR; Sarhan A; Shaltout A; Hammad A; Yahia S; El-Rifaie A; Abdel-Hadi D
    Saudi J Kidney Dis Transpl; 2017; 28(1):141-148. PubMed ID: 28098115
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
    Robinson PN; Booms P; Katzke S; Ladewig M; Neumann L; Palz M; Pregla R; Tiecke F; Rosenberg T
    Hum Mutat; 2002 Sep; 20(3):153-61. PubMed ID: 12203987
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
    Aoyama T; Francke U; Gasner C; Furthmayr H
    Am J Med Genet; 1995 Aug; 58(2):169-76. PubMed ID: 8533811
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Co-existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link.
    Yap WF; Chong HC
    Int J Rheum Dis; 2020 Nov; 23(11):1568-1573. PubMed ID: 32969582
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.