325 related articles for article (PubMed ID: 28442527)
1. 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]
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. 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]
4. 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]
5. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
Sakai LY; Keene DR; Renard M; De Backer J
Gene; 2016 Oct; 591(1):279-291. PubMed ID: 27437668
[TBL] [Abstract][Full Text] [Related]
6. A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.
Yin Y; Liu XH; Li XH; Fan N; Lei DF; Wang Y; Cai SP; Zhou XM; Chen XM; Liu XY
Genet Mol Res; 2015 Apr; 14(2):4125-32. PubMed ID: 25966184
[TBL] [Abstract][Full Text] [Related]
7. Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition.
Stheneur C; Tubach F; Jouneaux M; Roy C; Benoist G; Chevallier B; Boileau C; Jondeau G
Genet Med; 2014 Mar; 16(3):246-50. PubMed ID: 24008997
[TBL] [Abstract][Full Text] [Related]
8. Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1.
Zangwill SD; Brown MD; Bryke CR; Cava JR; Segura AD
Congenit Heart Dis; 2006 Sep; 1(5):229-32. PubMed ID: 18377530
[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. 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]
11. Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1.
Mbwasi RM; Maugeri A; Joel HN; Sadiq A; Ahmad B; Hamel BC
Eur J Med Genet; 2022 Nov; 65(11):104576. PubMed ID: 36058493
[TBL] [Abstract][Full Text] [Related]
12. A Novel Heterozygous Intronic Mutation in the
Torrado M; Maneiro E; Trujillo-Quintero JP; Evangelista A; Mikhailov AT; Monserrat L
Biomed Res Int; 2018; 2018():3536495. PubMed ID: 30003093
[TBL] [Abstract][Full Text] [Related]
13. Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene.
Elçioglu NH; Akalin F; Elçioglu M; Comeglio P; Child AH
Genet Couns; 2004; 15(2):219-25. PubMed ID: 15287423
[TBL] [Abstract][Full Text] [Related]
14. Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma.
Kuchtey J; Chang TC; Panagis L; Kuchtey RW
Am J Med Genet A; 2013 Apr; 161A(4):880-3. PubMed ID: 23444230
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K; Karttunen L; Puhakka L; Sakai L; Peltonen L
Nat Genet; 1994 Jan; 6(1):64-9. PubMed ID: 8136837
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K; Karck M; Haverich A; von Kodolitsch Y; Rybczynski M; Müller G; Singh KK; Schmidtke J; Arslan-Kirchner M
Hum Mutat; 2005 Dec; 26(6):529-39. PubMed ID: 16220557
[TBL] [Abstract][Full Text] [Related]
18. Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome.
Kayhan G; Ergun MA; Ergun SG; Kula S; Percin FE
Genet Test Mol Biomarkers; 2018 Aug; 22(8):474-480. PubMed ID: 30048161
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
Vatti L; Fitzgerald-Butt SM; McBride KL
Am J Med Genet A; 2017 Nov; 173(11):2995-3002. PubMed ID: 28941062
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
