228 related articles for article (PubMed ID: 28941062)
1. 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]
2. 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]
3. 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]
4. 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]
5. Ectopia lentis as the presenting and primary feature in Marfan syndrome.
Zadeh N; Bernstein JA; Niemi AK; Dugan S; Kwan A; Liang D; Hyland JC; Hoyme HE; Hudgins L; Manning MA
Am J Med Genet A; 2011 Nov; 155A(11):2661-8. PubMed ID: 21932315
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy.
Haan EA; Chamalaun FH; Chamuleau SAJ; Arnolda LF; Slavotinek JP; Wise NC; Gunawardane DN; Schwarze U; Byers PH; Gabb GM
Am J Med Genet A; 2021 Jul; 185(7):2180-2189. PubMed ID: 33878224
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
Hernándiz A; Zúñiga A; Valera F; Domingo D; Ontoria-Oviedo I; Marí JF; Román JA; Calvo I; Insa B; Gómez R; Cervera JV; Miralles M; Montero JA; Martínez-Dolz L; Sepúlveda P
Clin Genet; 2021 Feb; 99(2):269-280. PubMed ID: 33174221
[TBL] [Abstract][Full Text] [Related]
10. Ectopia lentis phenotypes and the FBN1 gene.
Adès LC; Holman KJ; Brett MS; Edwards MJ; Bennetts B
Am J Med Genet A; 2004 Apr; 126A(3):284-9. PubMed ID: 15054843
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Genotype variant screening and phenotypic analysis of
Zhou Y; Guo D; Cao Q; Zhang X; Jin G; Zheng D
Mol Med Rep; 2021 Apr; 23(4):. PubMed ID: 33576469
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Meester JAN; Peeters S; Van Den Heuvel L; Vandeweyer G; Fransen E; Cappella E; Dietz HC; Forbus G; Gelb BD; Goldmuntz E; Hoskoppal A; Landstrom AP; Lee T; Mital S; Morris S; Olson AK; Renard M; Roden DM; Singh MN; Selamet Tierney ES; Tretter JT; Van Driest SL; Willing M; Verstraeten A; Van Laer L; Lacro RV; Loeys BL
Genet Med; 2022 May; 24(5):1045-1053. PubMed ID: 35058154
[TBL] [Abstract][Full Text] [Related]
15. The revised ghent nosology; reclassifying isolated ectopia lentis.
Chandra A; Patel D; Aragon-Martin JA; Pinard A; Collod-Béroud G; Comeglio P; Boileau C; Faivre L; Charteris D; Child AH; Arno G
Clin Genet; 2015 Mar; 87(3):284-7. PubMed ID: 24635535
[TBL] [Abstract][Full Text] [Related]
16. Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.
Pepe G; Lapini I; Evangelisti L; Attanasio M; Giusti B; Lucarini L; Fattori R; Pellicanò G; Scrivanti M; Porciani MC; Abbate R; Gensini GF
Mol Vis; 2007 Nov; 13():2242-7. PubMed ID: 18087243
[TBL] [Abstract][Full Text] [Related]
17. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
Cecchi A; Ogawa N; Martinez HR; Carlson A; Fan Y; Penny DJ; Guo DC; Eisenberg S; Safi H; Estrera A; Lewis RA; Meyers D; Milewicz DM
Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS.
Cao D; Xu Z; Gu S; Li K; Bao X; Zhou Y; Yin D; Chen J; Wang Y
Gene; 2019 Mar; 689():51-55. PubMed ID: 30552983
[TBL] [Abstract][Full Text] [Related]
19. Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome.
Franken R; Teixido-Tura G; Brion M; Forteza A; Rodriguez-Palomares J; Gutierrez L; Garcia Dorado D; Pals G; Mulder BJ; Evangelista A
Heart; 2017 Nov; 103(22):1795-1799. PubMed ID: 28468757
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]