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Items: 1 to 20 of 187

1.

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U.

Am J Hum Genet. 2002 Aug;71(2):223-37.

2.

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B.

BMC Med Genet. 2015 Dec 18;16:113. doi: 10.1186/s12881-015-0260-4.

3.
4.

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, Singh KK, Schmidtke J, Arslan-Kirchner M.

Hum Mutat. 2005 Dec;26(6):529-39.

PMID:
16220557
5.

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.

6.

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L.

Hum Mutat. 2005 Nov;26(5):494.

PMID:
16222657
7.

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C.

Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36.

8.

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.

Attanasio M, Pratelli E, Porciani MC, Evangelisti L, Torricelli E, Pellicanò G, Abbate R, Gensini GF, Pepe G.

Eur J Med Genet. 2013 Jul;56(7):356-60. doi: 10.1016/j.ejmg.2013.04.006.

PMID:
23684891
9.

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

Biggin A, Holman K, Brett M, Bennetts B, Adès L.

Hum Mutat. 2004 Jan;23(1):99.

PMID:
14695540
10.

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani M, Fattori R, Anichini C, Abbate R, Gensini G, Pepe G.

Clin Genet. 2008 Jul;74(1):39-46. doi: 10.1111/j.1399-0004.2008.01007.x.

PMID:
18435798
11.

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. doi: 10.1002/ajmg.a.32593.

PMID:
19161152
12.

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T.

Hum Mutat. 2002 Sep;20(3):153-61. Review.

PMID:
12203987
13.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.

Am J Hum Genet. 2007 Sep;81(3):454-66.

14.

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF.

Clin Genet. 2001 Jun;59(6):444-50.

PMID:
11453977
15.

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 12;161(20):2447-54.

PMID:
11700157
16.

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 15;24(10):2764-70. doi: 10.1093/hmg/ddv037.

17.

Molecular analysis of eight mutations in FBN1.

Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA.

Hum Genet. 1999 Dec;105(6):587-97.

PMID:
10647894
18.

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.

Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T.

Hum Mutat. 2001;17(1):71-2.

PMID:
11139245
19.

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.

Chao SC, Chen JS, Tsai CH, Lin JM, Lin YJ, Sun HS.

Clin Genet. 2010 May;77(5):453-63. doi: 10.1111/j.1399-0004.2009.01337.x.

PMID:
20132243
20.

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
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