227 related articles for article (PubMed ID: 28941062)
21. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.
Edwards MJ; Challinor CJ; Colley PW; Roberts J; Partington MW; Hollway GE; Kozman HM; Mulley JC
Am J Med Genet; 1994 Oct; 53(1):65-71. PubMed ID: 7802039
[TBL] [Abstract][Full Text] [Related]
22. Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.
Chen ZX; Chen TH; Zhang M; Chen JH; Lan LN; Deng M; Zheng JL; Jiang YX
Hum Mutat; 2021 Dec; 42(12):1637-1647. PubMed ID: 34550612
[TBL] [Abstract][Full Text] [Related]
23. Novel p.G1344E mutation in
Yang Y; Zhou YL; Yao TT; Pan H; Gu P; Wang ZY
Br J Ophthalmol; 2021 Mar; 105(3):341-347. PubMed ID: 32404357
[TBL] [Abstract][Full Text] [Related]
24. A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.
Stephenson KAJ; Dockery A; O'Keefe M; Green A; Farrar GJ; Keegan DJ
Eye (Lond); 2020 Apr; 34(4):690-694. PubMed ID: 31527767
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Impact of Pathogenic
Takeda N; Inuzuka R; Maemura S; Morita H; Nawata K; Fujita D; Taniguchi Y; Yamauchi H; Yagi H; Kato M; Nishimura H; Hirata Y; Ikeda Y; Kumagai H; Amiya E; Hara H; Fujiwara T; Akazawa H; Suzuki JI; Imai Y; Nagai R; Takamoto S; Hirata Y; Ono M; Komuro I
Circ Genom Precis Med; 2018 Jun; 11(6):e002058. PubMed ID: 29848614
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
Grange T; Aubart M; Langeois M; Benarroch L; Arnaud P; Milleron O; Eliahou L; Gross MS; Hanna N; Boileau C; Gouya L; Jondeau G
Genes (Basel); 2020 May; 11(5):. PubMed ID: 32443863
[TBL] [Abstract][Full Text] [Related]
30. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
Comeglio P; Evans AL; Brice G; Cooling RJ; Child AH
Br J Ophthalmol; 2002 Dec; 86(12):1359-62. PubMed ID: 12446365
[TBL] [Abstract][Full Text] [Related]
31. Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
Jin C; Yao K; Jiang J; Tang X; Shentu X; Wu R
Mol Vis; 2007 Jul; 13():1280-4. PubMed ID: 17679947
[TBL] [Abstract][Full Text] [Related]
32. Genotype-Phenotype Correlation in Children: The Impact of
Stark VC; Hensen F; Kutsche K; Kortüm F; Olfe J; Wiegand P; von Kodolitsch Y; Kozlik-Feldmann R; Müller GC; Mir TS
Genes (Basel); 2020 Jul; 11(7):. PubMed ID: 32679894
[TBL] [Abstract][Full Text] [Related]
33. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.
Turner CL; Emery H; Collins AL; Howarth RJ; Yearwood CM; Cross E; Duncan PJ; Bunyan DJ; Harvey JF; Foulds NC
Am J Med Genet A; 2009 Feb; 149A(2):161-70. PubMed ID: 19161152
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
Körkkö J; Kaitila I; Lönnqvist L; Peltonen L; Ala-Kokko L
J Med Genet; 2002 Jan; 39(1):34-41. PubMed ID: 11826022
[TBL] [Abstract][Full Text] [Related]
36. Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome.
Jones W; Rodriguez J; Bassnett S
Dis Model Mech; 2019 Jan; 12(1):. PubMed ID: 30642872
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. A novel mutation of the fibrillin gene causing ectopia lentis.
Lönnqvist L; Child A; Kainulainen K; Davidson R; Puhakka L; Peltonen L
Genomics; 1994 Feb; 19(3):573-6. PubMed ID: 8188302
[TBL] [Abstract][Full Text] [Related]
39. The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.
Aubart M; Gross MS; Hanna N; Zabot MT; Sznajder M; Detaint D; Gouya L; Jondeau G; Boileau C; Stheneur C
Hum Mol Genet; 2015 May; 24(10):2764-70. PubMed ID: 25652400
[TBL] [Abstract][Full Text] [Related]
40. The clinical spectrum of complete FBN1 allele deletions.
Hilhorst-Hofstee Y; Hamel BC; Verheij JB; Rijlaarsdam ME; Mancini GM; Cobben JM; Giroth C; Ruivenkamp CA; Hansson KB; Timmermans J; Moll HA; Breuning MH; Pals G
Eur J Hum Genet; 2011 Mar; 19(3):247-52. PubMed ID: 21063442
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
