234 related articles for article (PubMed ID: 11391655)
1. FBN1 exon 2 splicing error in a patient with Marfan syndrome.
Guo D; Tan FK; Cantu A; Plon SE; Milewicz DM
Am J Med Genet; 2001 Jun; 101(2):130-4. PubMed ID: 11391655
[TBL] [Abstract][Full Text] [Related]
2. A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.
Caputi M; Kendzior RJ; Beemon KL
Genes Dev; 2002 Jul; 16(14):1754-9. PubMed ID: 12130535
[TBL] [Abstract][Full Text] [Related]
3. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
Milewicz DM; Grossfield J; Cao SN; Kielty C; Covitz W; Jewett T
J Clin Invest; 1995 May; 95(5):2373-8. PubMed ID: 7738200
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 11175294
[TBL] [Abstract][Full Text] [Related]
5. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.
Liu W; Qian C; Francke U
Nat Genet; 1997 Aug; 16(4):328-9. PubMed ID: 9241263
[No Abstract] [Full Text] [Related]
6. 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; 16():113. PubMed ID: 26684006
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 9452085
[No Abstract] [Full Text] [Related]
8. Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.
Díaz de Bustamante A; Ruiz-Casares E; Darnaude MT; Perucho T; Martínez-Quesada G
Rev Esp Cardiol (Engl Ed); 2012 Apr; 65(4):380-1. PubMed ID: 21840105
[No Abstract] [Full Text] [Related]
9. An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?
Gillis E; Kempers M; Salemink S; Timmermans J; Cheriex EC; Bekkers SC; Fransen E; De Die-Smulders CE; Loeys BL; Van Laer L
Hum Mutat; 2014 May; 35(5):571-4. PubMed ID: 24610719
[TBL] [Abstract][Full Text] [Related]
10. Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.
Chikumi H; Yamamoto T; Ohta Y; Nanba E; Nagata K; Ninomiya H; Narasaki K; Katoh T; Hisatome I; Ono K; Tanaka Y; Kuroda H; Ohgi S
J Hum Genet; 2000; 45(2):115-8. PubMed ID: 10721679
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Hayward C; Porteous ME; Brock DJ
Mol Cell Probes; 1994 Aug; 8(4):325-7. PubMed ID: 7870075
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 21976953
[TBL] [Abstract][Full Text] [Related]
13. Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.
Booms P; Cisler J; Mathews KR; Godfrey M; Tiecke F; Kaufmann UC; Vetter U; Hagemeier C; Robinson PN
Clin Genet; 1999 Feb; 55(2):110-7. PubMed ID: 10189088
[TBL] [Abstract][Full Text] [Related]
14. [Two novel mutations in fibrillin-1 gene of Marfan syndrome].
Huang X; Wu Y; Chen F; Huang Y; Ma X; Chen T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Dec; 21(6):562-5. PubMed ID: 15583982
[TBL] [Abstract][Full Text] [Related]
15. Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
Wang M; Kishnani P; Decker-Phillips M; Kahler SG; Chen YT; Godfrey M
J Med Genet; 1996 Sep; 33(9):760-3. PubMed ID: 8880577
[TBL] [Abstract][Full Text] [Related]
16. Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
Comeglio P; Evans AL; Brice GW; Child AH
Hum Mutat; 2001 Dec; 18(6):546-7. PubMed ID: 11748851
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 16220557
[TBL] [Abstract][Full Text] [Related]
18. Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.
Zhao F; Pan X; Zhao K; Zhao C
Mol Vis; 2013; 19():751-8. PubMed ID: 23592911
[TBL] [Abstract][Full Text] [Related]
19. Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.
Hutchinson S; Wordsworth BP; Handford PA
Hum Genet; 2001 Oct; 109(4):416-20. PubMed ID: 11702223
[TBL] [Abstract][Full Text] [Related]
20. Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
Rommel K; Karck M; Haverich A; Schmidtke J; Arslan-Kirchner M
Hum Mutat; 2002 Nov; 20(5):406-7. PubMed ID: 12402346
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
