430 related articles for article (PubMed ID: 12203992)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
Mátyás G; De Paepe A; Halliday D; Boileau C; Pals G; Steinmann B
Hum Mutat; 2002 Apr; 19(4):443-56. PubMed ID: 11933199
[TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
Faivre L; Masurel-Paulet A; Collod-Béroud G; Callewaert BL; Child AH; Stheneur C; Binquet C; Gautier E; Chevallier B; Huet F; Loeys BL; Arbustini E; Mayer K; Arslan-Kirchner M; Kiotsekoglou A; Comeglio P; Grasso M; Halliday DJ; Béroud C; Bonithon-Kopp C; Claustres M; Robinson PN; Adès L; De Backer J; Coucke P; Francke U; De Paepe A; Boileau C; Jondeau G
Pediatrics; 2009 Jan; 123(1):391-8. PubMed ID: 19117906
[TBL] [Abstract][Full Text] [Related]
11. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.
Liu WO; Oefner PJ; Qian C; Odom RS; Francke U
Genet Test; 1997-1998; 1(4):237-42. PubMed ID: 10464652
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 15241795
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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. PubMed ID: 16222657
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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. PubMed ID: 11139245
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
de Vries BB; Pals G; Odink R; Hamel BC
Eur J Hum Genet; 2007 Sep; 15(9):930-5. PubMed ID: 17568394
[TBL] [Abstract][Full Text] [Related]
20. Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome.
Singh KK; Shukla PC; Rommel K; Schmidtke J; Arslan-Kirchner M
Eur J Hum Genet; 2006 Jul; 14(7):876-9. PubMed ID: 16617303
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]