523 related articles for article (PubMed ID: 7870075)
21. A novel mutation of the fibrillin gene causing ectopia lentis.
Lönnqvist L; Child A; Kainulainen K; Davidson R; Puhakka L; Peltonen L
Genomics; 1994 Feb; 19(3):573-6. PubMed ID: 8188302
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Ectopia lentis phenotypes and the FBN1 gene.
Adès LC; Holman KJ; Brett MS; Edwards MJ; Bennetts B
Am J Med Genet A; 2004 Apr; 126A(3):284-9. PubMed ID: 15054843
[TBL] [Abstract][Full Text] [Related]
24. 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. PubMed ID: 12203987
[TBL] [Abstract][Full Text] [Related]
25. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
Belleh S; Zhou G; Wang M; Der Kaloustian VM; Pagon RA; Godfrey M
Am J Med Genet; 2000 May; 92(1):7-12. PubMed ID: 10797416
[TBL] [Abstract][Full Text] [Related]
26. 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. PubMed ID: 8004112
[No Abstract] [Full Text] [Related]
27. Fibrillin (FBN1) mutations in Marfan syndrome.
Hayward C; Keston M; Brock DJ; Dietz HC
Hum Mutat; 1992; 1(1):79. PubMed ID: 1301195
[No Abstract] [Full Text] [Related]
28. 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. PubMed ID: 22876116
[TBL] [Abstract][Full Text] [Related]
29. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
Dietz HC; Saraiva JM; Pyeritz RE; Cutting GR; Francomano CA
Hum Mutat; 1992; 1(5):366-74. PubMed ID: 1301946
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.
Liang C; Fan W; Wu S; Liu Y
Mol Vis; 2011; 17():3481-5. PubMed ID: 22219643
[TBL] [Abstract][Full Text] [Related]
32. A recurring FBN1 gene mutation in neonatal Marfan syndrome.
Jacobs AM; Toudjarska I; Racine A; Tsipouras P; Kilpatrick MW; Shanske A
Arch Pediatr Adolesc Med; 2002 Nov; 156(11):1081-5. PubMed ID: 12413333
[TBL] [Abstract][Full Text] [Related]
33. A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.
Kilpatrick MW; Lembessis P; Rose E; Tsipouras P
Hum Hered; 1999 Jun; 49(3):176-7. PubMed ID: 10364683
[No Abstract] [Full Text] [Related]
34. A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
Booms P; Withers AP; Boxer M; Kaufmann UC; Hagemeier C; Vetter U; Robinson PN
Hum Genet; 1997 Aug; 100(2):195-200. PubMed ID: 9254848
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
Adès LC; Haan EA; Colley AF; Richard RI
J Med Genet; 1996 Aug; 33(8):665-71. PubMed ID: 8863159
[TBL] [Abstract][Full Text] [Related]
38. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
Dietz HC; McIntosh I; Sakai LY; Corson GM; Chalberg SC; Pyeritz RE; Francomano CA
Genomics; 1993 Aug; 17(2):468-75. PubMed ID: 8406497
[TBL] [Abstract][Full Text] [Related]
39. The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome.
Ikebuchi M; Yamamoto T; Chikumi H; Tanaka Y; Nanba E; Kuroda H; Ohgi S
Hum Mutat; 2000 Mar; 15(3):298. PubMed ID: 10679954
[No Abstract] [Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
