903 related articles for article (PubMed ID: 12203987)
1. 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]
2. The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.
Li D; Yu J; Gu F; Pang X; Ma X; Li R; Liu N; Ma X
Genet Test; 2008 Jun; 12(2):325-30. PubMed ID: 18471089
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management.
Loeys BL; Matthys DM; de Paepe AM
Acta Clin Belg; 2003; 58(1):3-11. PubMed ID: 12723256
[TBL] [Abstract][Full Text] [Related]
5. The molecular pathogenesis of the Marfan syndrome.
Robinson PN; Booms P
Cell Mol Life Sci; 2001 Oct; 58(11):1698-707. PubMed ID: 11706995
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K; Karttunen L; Puhakka L; Sakai L; Peltonen L
Nat Genet; 1994 Jan; 6(1):64-9. PubMed ID: 8136837
[TBL] [Abstract][Full Text] [Related]
8. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C; Brock DJ
Hum Mutat; 1997; 10(6):415-23. PubMed ID: 9401003
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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; 161(20):2447-54. PubMed ID: 11700157
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 18435798
[TBL] [Abstract][Full Text] [Related]
12. The revised ghent nosology; reclassifying isolated ectopia lentis.
Chandra A; Patel D; Aragon-Martin JA; Pinard A; Collod-Béroud G; Comeglio P; Boileau C; Faivre L; Charteris D; Child AH; Arno G
Clin Genet; 2015 Mar; 87(3):284-7. PubMed ID: 24635535
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Chandra A; Aragon-Martin JA; Hughes K; Gati S; Reddy MA; Deshpande C; Cormack G; Child AH; Charteris DG; Arno G
Invest Ophthalmol Vis Sci; 2012 Jul; 53(8):4889-96. PubMed ID: 22736615
[TBL] [Abstract][Full Text] [Related]
15. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
Körkkö J; Kaitila I; Lönnqvist L; Peltonen L; Ala-Kokko L
J Med Genet; 2002 Jan; 39(1):34-41. PubMed ID: 11826022
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 23684891
[TBL] [Abstract][Full Text] [Related]
17. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
Cecchi A; Ogawa N; Martinez HR; Carlson A; Fan Y; Penny DJ; Guo DC; Eisenberg S; Safi H; Estrera A; Lewis RA; Meyers D; Milewicz DM
Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642
[TBL] [Abstract][Full Text] [Related]
18. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
Faivre L; Collod-Beroud G; Callewaert B; Child A; Loeys BL; Binquet C; Gautier E; Arbustini E; Mayer K; Arslan-Kirchner M; Kiotsekoglou A; Comeglio P; Grasso M; Beroud C; Bonithon-Kopp C; Claustres M; Stheneur C; Bouchot O; Wolf JE; Robinson PN; Adès L; De Backer J; Coucke P; Francke U; De Paepe A; Boileau C; Jondeau G
Am J Med Genet A; 2009 May; 149A(5):854-60. PubMed ID: 19353630
[TBL] [Abstract][Full Text] [Related]
19. The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN; Godfrey M
J Med Genet; 2000 Jan; 37(1):9-25. PubMed ID: 10633129
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 14695540
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]