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Items: 1 to 20 of 154

1.

Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome.

Mottes M, Mirandola S, Rigatelli F, Zolezzi F, Lisi V, Gordon D, Pignatti PF.

Hum Hered. 2000 May-Jun;50(3):175-9.

PMID:
10686496
2.

[Indirect genotype analysis as a diagnostic procedure in Marfan syndrome].

Laudahn BM, Gyürüs P, Orth U, Gal A, Nienaber CA.

Z Kardiol. 2000 Oct;89(10):939-48. German.

PMID:
11098545
3.

Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.

Hewett D, Lynch J, Child A, Firth H, Sykes B.

Am J Hum Genet. 1994 Sep;55(3):447-52.

4.

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC.

N Engl J Med. 1994 Jul 21;331(3):148-53.

5.
6.

The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.

Keramati AR, Sadeghpour A, Farahani MM, Chandok G, Mani A.

BMC Med Genet. 2010 Oct 11;11:143. doi: 10.1186/1471-2350-11-143.

7.

DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers.

Rantamäki T, Lönnqvist L, Karttunen L, Kainulainen K, Peltonen L.

Eur J Hum Genet. 1994;2(1):66-75.

PMID:
8044654
8.

Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2).

Biddinger AL, Hecht JT, Milewicz DM.

Hum Mol Genet. 1993 Aug;2(8):1323. No abstract available.

PMID:
8401518
9.

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T.

Eur J Hum Genet. 2001 Jan;9(1):13-21.

10.

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC.

Am J Hum Genet. 1998 Dec;63(6):1703-11.

11.

Compound-heterozygous Marfan syndrome.

Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM.

Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. doi: 10.1016/j.ejmg.2008.11.004. Epub 2008 Nov 27.

PMID:
19059503
12.

Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.

Toudjarska I, Kilpatrick MW, Lembessis P, Carra S, Harton GL, Sisson ME, Black SH, Stern HJ, Gelman-Kohan Z, Shohat M, Tsipouras P.

Am J Med Genet. 2001 Apr 1;99(4):294-302.

PMID:
11251996
13.

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A.

Hum Mutat. 2004 Aug;24(2):140-6.

PMID:
15241795
14.

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Hayward C, Brock DJ.

Hum Mutat. 1997;10(6):415-23. Review.

PMID:
9401003
15.

The FBN1 (R2726W) mutation is not fully penetrant.

Buoni S, Zannolli R, Macucci F, Ansaldi S, Grasso M, Arbustini E, Fois A.

Ann Hum Genet. 2004 Nov;68(Pt 6):633-8.

16.

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA.

Hum Mol Genet. 2003 Sep 15;12(18):2269-76. Epub 2003 Jul 22.

PMID:
12915484
17.

FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis.

Wang B, Hu D, Xia J, Li Q, Yang J, Lu G.

Chin Med J (Engl). 2003 Jul;116(7):1043-6.

PMID:
12890380
18.

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.

Black C, Withers AP, Gray JR, Bridges AB, Craig A, Baty DU, Boxer M.

Hum Mutat. 1998;Suppl 1:S198-200. No abstract available.

PMID:
9452085
19.

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A.

Clin Genet. 2007 Sep;72(3):188-98.

PMID:
17718856
20.

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.

Hayward C, Rae AL, Porteous ME, Logie LJ, Brock DJ.

Hum Mol Genet. 1994 Feb;3(2):373-5. No abstract available.

PMID:
8004112

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