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Items: 1 to 20 of 33

1.

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R.

J Transl Med. 2016 May 4;14(1):115. doi: 10.1186/s12967-016-0870-4.

2.

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

Reyes-Hernández OD, Palacios-Reyes C, Chávez-Ocaña S, Cortés-Malagón EM, Alonso-Themann PG, Ramos-Cano V, Ramírez-Bello J, Sierra-Martínez M.

BMC Musculoskelet Disord. 2016 Feb 15;17:79. doi: 10.1186/s12891-016-0935-9.

3.

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

Haller G, Alvarado DM, Willing MC, Braverman AC, Bridwell KH, Kelly M, Lenke LG, Luhmann SJ, Gurnett CA, Dobbs MB.

J Bone Joint Surg Am. 2015 Sep 2;97(17):1411-7. doi: 10.2106/JBJS.O.00290.

PMID:
26333736
4.

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Campens L, Callewaert B, Muiño Mosquera L, Renard M, Symoens S, De Paepe A, Coucke P, De Backer J.

Orphanet J Rare Dis. 2015 Feb 3;10:9. doi: 10.1186/s13023-014-0221-6.

5.

Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.

Li J, Jia X, Li S, Fang S, Guo X.

Mol Vis. 2014 Jul 18;20:1017-24. eCollection 2014.

6.

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.

Fu Q, Liu P, Lu Q, Wang F, Wang H, Shen W, Xu F, Liu L, Sergeev YV, Sui R.

Mol Vis. 2014 Jun 12;20:812-21. eCollection 2014.

7.

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang NL, Lam TP, Ng BK, Cheng JC, Dobbs MB, Gurnett CA.

Hum Mol Genet. 2014 Oct 1;23(19):5271-82. doi: 10.1093/hmg/ddu224. Epub 2014 May 15.

8.

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL.

Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013.

9.

Molecular pathogenesis and management strategies of ectopia lentis.

Chandra A, Charteris D.

Eye (Lond). 2014 Feb;28(2):162-8. doi: 10.1038/eye.2013.274. Epub 2014 Jan 10. Review.

10.

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.

Lacro RV, Guey LT, Dietz HC, Pearson GD, Yetman AT, Gelb BD, Loeys BL, Benson DW, Bradley TJ, De Backer J, Forbus GA, Klein GL, Lai WW, Levine JC, Lewin MB, Markham LW, Paridon SM, Pierpont ME, Radojewski E, Selamet Tierney ES, Sharkey AM, Wechsler SB, Mahony L; Pediatric Heart Network Investigators.

Am Heart J. 2013 May;165(5):828-835.e3. doi: 10.1016/j.ahj.2013.02.019. Epub 2013 Mar 26.

11.
12.

Informative STR Markers for Marfan Syndrome in Birjand, Iran.

Dadkhah E, Ziaee M, Davari MH, Kazemi T, Abbaszadegan MR.

Iran J Basic Med Sci. 2012 Sep;15(5):1020-5.

13.

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. Epub 2012 Jul 18.

14.

Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy.

Van Laer L, Proost D, Loeys BL.

Eur J Pediatr. 2013 Aug;172(8):997-1005. doi: 10.1007/s00431-012-1773-x. Epub 2012 Jul 17. Review.

15.

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

Yang G, Chu M, Zhai X, Zhao J.

Mol Vis. 2012;18:945-50. Epub 2012 Apr 13.

16.

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.

Meng B, Li H, Yang T, Huang S, Sun X, Yuan H.

Mol Vis. 2011;17:2421-7. Epub 2011 Sep 17.

17.

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

Furtado LV, Wooderchak-Donahue W, Rope AF, Yetman AT, Lewis T, Plant P, Bayrak-Toydemir P.

BMC Med Genet. 2011 Sep 21;12:119. doi: 10.1186/1471-2350-12-119.

18.

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. doi: 10.1038/ejhg.2010.174. Epub 2010 Nov 10.

19.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

Villamizar C, Regalado ES, Fadulu VT, Hasham SN, Gupta P, Willing MC, Kuang SQ, Guo D, Muilenburg A, Yee RW, Fan Y, Towbin J, Coselli JS, LeMaire SA, Milewicz DM.

Eur J Med Genet. 2010 Mar-Apr;53(2):80-4. doi: 10.1016/j.ejmg.2009.11.001. Epub 2009 Nov 23.

20.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C.

Nucleic Acids Res. 2009 May;37(9):e67. doi: 10.1093/nar/gkp215. Epub 2009 Apr 1.

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