141 related articles for article (PubMed ID: 38826987)
1. Uncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study.
Jiménez-Berríos GA; Vázquez-Folch SJ; Izquierdo N
Cureus; 2024 May; 16(5):e59452. PubMed ID: 38826987
[TBL] [Abstract][Full Text] [Related]
2. A Novel Variant in the FBN1 Gene Causing Marfan Syndrome: A Case Report.
Jiménez-Berríos GA; Vázquez-Folch SJ; Izquierdo N
Cureus; 2024 Mar; 16(3):e56948. PubMed ID: 38665719
[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. 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]
5. Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.
Overwater E; Efrat R; Barge-Schaapveld DQCM; Lakeman P; Weiss MM; Maugeri A; van Tintelen JP; Houweling AC
Mol Genet Genomic Med; 2019 Feb; 7(2):e00518. PubMed ID: 30485715
[TBL] [Abstract][Full Text] [Related]
6. Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.
Qi M; Wang C; Liu Y; Shi X; Rong W
Int Ophthalmol; 2022 Jul; 42(7):2245-2253. PubMed ID: 35612688
[TBL] [Abstract][Full Text] [Related]
7. Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.
Karaoglan M; Nacarkahya G; Aytac EH; Keskin M
Eur J Pediatr; 2024 May; ():. PubMed ID: 38700693
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic findings in Chinese families with congenital ectopia lentis.
Liu X; Niu L; Zhang L; Jiang L; Liu K; Wu X; Liu X; Wang J
Mol Genet Genomic Med; 2023 May; 11(5):e2140. PubMed ID: 36670079
[TBL] [Abstract][Full Text] [Related]
9. Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.
Zhang L; Lai YH; Capasso JE; Han S; Levin AV
Am J Med Genet A; 2015 Jun; 167(6):1365-8. PubMed ID: 25900864
[TBL] [Abstract][Full Text] [Related]
10. A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.
Martínez-Quintana E; Rodríguez-González F; Garay-Sánchez P; Tugores A
Mol Syndromol; 2014 Aug; 5(5):236-40. PubMed ID: 25337071
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
Micheal S; Khan MI; Akhtar F; Weiss MM; Islam F; Ali M; Qamar R; Maugeri A; den Hollander AI
Mol Vis; 2012; 18():1918-26. PubMed ID: 22876116
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser.
Mohammad AN; Atwal PS
J Pediatr Genet; 2018 Jun; 7(2):83-85. PubMed ID: 29707410
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
Vanita V; Singh JR; Singh D; Varon R; Robinson PN; Sperling K
Mol Vis; 2007 Oct; 13():2035-40. PubMed ID: 18079676
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Chandra A; Aragon-Martin JA; Hughes K; Gati S; Reddy MA; Deshpande C; Cormack G; Child AH; Charteris DG; Arno G
Invest Ophthalmol Vis Sci; 2012 Jul; 53(8):4889-96. PubMed ID: 22736615
[TBL] [Abstract][Full Text] [Related]
19. A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.
Niu Y; Huang S; Wang Z; Xu P; Wang L; Li J; Gao M; Gao X; Gao Y
BMC Med Genet; 2020 Oct; 21(1):211. PubMed ID: 33087052
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]