These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
125 related articles for article (PubMed ID: 10441597)
1. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Collod-Béroud G; Lackmy-Port-Lys M; Jondeau G; Mathieu M; Maingourd Y; Coulon M; Guillotel M; Junien C; Boileau C Am J Hum Genet; 1999 Sep; 65(3):917-21. PubMed ID: 10441597 [No Abstract] [Full Text] [Related]
2. Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. Rantamäki T; Kaitila I; Syvänen AC; Lukka M; Peltonen L Am J Hum Genet; 1999 Apr; 64(4):993-1001. PubMed ID: 10090884 [TBL] [Abstract][Full Text] [Related]
4. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Sutherell J; Zarate Y; Tinkle BT; Markham LW; Cripe LH; Hyland JC; Witte D; Hopkin RJ; Hinton RB Congenit Heart Dis; 2007; 2(5):342-6. PubMed ID: 18377451 [TBL] [Abstract][Full Text] [Related]
5. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Putnam EA; Cho M; Zinn AB; Towbin JA; Byers PH; Milewicz DM Am J Med Genet; 1996 Mar; 62(3):233-42. PubMed ID: 8882780 [TBL] [Abstract][Full Text] [Related]
6. Severe Marfan syndrome due to FBN1 exon deletions. Blyth M; Foulds N; Turner C; Bunyan D Am J Med Genet A; 2008 May; 146A(10):1320-4. PubMed ID: 18412115 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
12. Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome. Singh KK; Elligsen D; Liersch R; Schubert S; Pabst B; Arslan-Kirchner M; Schmidtke J J Mol Cell Cardiol; 2007 Feb; 42(2):352-6. PubMed ID: 17189636 [TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 9837823 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation. Palz M; Tiecke F; Booms P; Göldner B; Rosenberg T; Fuchs J; Skovby F; Schumacher H; Kaufmann UC; von Kodolitsch Y; Nienaber CA; Leitner C; Katzke S; Vetter B; Hagemeier C; Robinson PN Am J Med Genet; 2000 Mar; 91(3):212-21. PubMed ID: 10756346 [TBL] [Abstract][Full Text] [Related]
16. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Tekin M; Cengiz FB; Ayberkin E; Kendirli T; Fitoz S; Tutar E; Ciftçi E; Conba A Am J Med Genet A; 2007 Apr; 143A(8):875-80. PubMed ID: 17366579 [TBL] [Abstract][Full Text] [Related]
17. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. Park ES; Putnam EA; Chitayat D; Child A; Milewicz DM Am J Med Genet; 1998 Jul; 78(4):350-5. PubMed ID: 9714438 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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. PubMed ID: 15598221 [TBL] [Abstract][Full Text] [Related]
20. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Katzke S; Booms P; Tiecke F; Palz M; Pletschacher A; Türkmen S; Neumann LM; Pregla R; Leitner C; Schramm C; Lorenz P; Hagemeier C; Fuchs J; Skovby F; Rosenberg T; Robinson PN Hum Mutat; 2002 Sep; 20(3):197-208. PubMed ID: 12203992 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]