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Items: 1 to 20 of 375

1.

Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome.

Zhang M, Zhou Y, Peng Y, Jin L.

Mol Med Rep. 2018 Jul;18(1):877-881. doi: 10.3892/mmr.2018.9041. Epub 2018 May 22.

2.

Aortic dilatation in Marfan syndrome: role of arterial stiffness and fibrillin-1 variants.

Salvi P, Grillo A, Marelli S, Gao L, Salvi L, Viecca M, Di Blasio AM, Carretta R, Pini A, Parati G.

J Hypertens. 2018 Jan;36(1):77-84. doi: 10.1097/HJH.0000000000001512.

PMID:
29210860
3.

A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.

Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH.

Eur J Med Genet. 2018 Apr;61(4):219-224. doi: 10.1016/j.ejmg.2017.11.018. Epub 2017 Nov 27. Review.

PMID:
29191498
4.

Asprosin is a centrally acting orexigenic hormone.

Duerrschmid C, He Y, Wang C, Li C, Bournat JC, Romere C, Saha PK, Lee ME, Phillips KJ, Jain M, Jia P, Zhao Z, Farias M, Wu Q, Milewicz DM, Sutton VR, Moore DD, Butte NF, Krashes MJ, Xu Y, Chopra AR.

Nat Med. 2017 Dec;23(12):1444-1453. doi: 10.1038/nm.4432. Epub 2017 Nov 6.

5.

Childhood glaucoma in neonatal Marfan syndrome resulting from a novel FBN1 deletion.

Nazarali S, Nazarali SA, Antoniuk A, Greve M, Damji KF.

Can J Ophthalmol. 2017 Oct;52(5):e171-e173. doi: 10.1016/j.jcjo.2017.03.008. Epub 2017 May 11. No abstract available.

PMID:
28985825
6.

FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

Tan L, Li Z, Zhou C, Cao Y, Zhang L, Li X, Cianflone K, Wang Y, Wang DW.

Hum Mol Genet. 2017 Dec 15;26(24):4814-4822. doi: 10.1093/hmg/ddx360.

PMID:
28973303
7.

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. doi: 10.1002/ajmg.a.38489. Epub 2017 Sep 21.

PMID:
28941062
8.

Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection.

Han Q, Zhang W, Liu C, Zhou M, Ran F, Yi L, Sun X, Liu Z.

Mol Med Rep. 2017 Nov;16(5):6620-6625. doi: 10.3892/mmr.2017.7410. Epub 2017 Aug 31.

9.

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Li J, Wu W, Lu C, Liu Y, Wang R, Si N, Liu F, Zhou J, Zhang S, Zhang X.

Clin Chim Acta. 2017 Nov;474:54-59. doi: 10.1016/j.cca.2017.08.023. Epub 2017 Aug 24.

PMID:
28842177
10.

Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.

Newell K, Smith W, Ghoshhajra B, Isselbacher E, Lin A, Lindsay ME.

Am J Med Genet A. 2017 Sep;173(9):2551-2556. doi: 10.1002/ajmg.a.38353. Epub 2017 Jul 11.

PMID:
28696036
11.

De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.

Wang S, Niu Z, Wang H, Ma M, Zhang W, Fang Wang S, Wang J, Yan H, Liu Y, Duan N, Zhang X, Yao Y.

Med Sci Monit. 2017 Jun 26;23:3136-3146.

12.

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. doi: 10.1136/heartjnl-2016-310631. Epub 2017 May 3.

PMID:
28468757
13.

Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg.

Cetinkaya A, Karaman A, Mutlu MB, Yavuz T.

Congenit Anom (Kyoto). 2018 Jan;58(1):41-43. doi: 10.1111/cga.12220. Epub 2017 Apr 24. No abstract available.

PMID:
28321935
14.

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

Zhurayev R, Proost D, Zerbino D, Fedorenko V, Meester JA, VAN Laer L, Loeys BL.

Genet Res (Camb). 2016 Oct 11;98:e13.

PMID:
27724990
15.

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.

Dordoni C, Ciaccio C, Santoro G, Venturini M, Cavallari U, Ritelli M, Colombi M.

Am J Med Genet A. 2017 Jan;173(1):200-206. doi: 10.1002/ajmg.a.37975. Epub 2016 Sep 12. Review.

PMID:
27615407
16.

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. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31.

17.

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. Epub 2016 Aug 24.

PMID:
27558095
18.

Fibrillin-1 (FBN-1) a new marker of germ cell neoplasia in situ.

Cierna Z, Mego M, Jurisica I, Machalekova K, Chovanec M, Miskovska V, Svetlovska D, Kalavska K, Rejlekova K, Kajo K, Mardiak J, Babal P.

BMC Cancer. 2016 Aug 4;16:597. doi: 10.1186/s12885-016-2644-z.

19.

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 1;460:102-6. doi: 10.1016/j.cca.2016.06.031. Epub 2016 Jun 25.

PMID:
27353645
20.

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

de Bruin C, Finlayson C, Funari MF, Vasques GA, Lucheze Freire B, Lerario AM, Andrew M, Hwa V, Dauber A, Jorge AA.

Horm Res Paediatr. 2016;86(5):342-348. doi: 10.1159/000446476. Epub 2016 Jun 2.

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