BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

484 related articles for article (PubMed ID: 10721679)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients.
    Evangelisti L; Lucarini L; Attanasio M; Lapini I; Giusti B; Porciani C; Gensini GF; Abbate R; Pepe G
    Eur J Med Genet; 2010; 53(5):299-302. PubMed ID: 20538085
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 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. FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis.
    Wang B; Hu D; Xia J; Li Q; Yang J; Lu G
    Chin Med J (Engl); 2003 Jul; 116(7):1043-6. PubMed ID: 12890380
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene.
    Pepe G; Giusti B; Attanasio M; Comeglio P; Porciani MC; Giurlani L; Montesi GF; Calamai GC; Vaccari M; Favilli S; Abbate R; Gensini GF
    J Mol Cell Cardiol; 1997 Jul; 29(7):1877-84. PubMed ID: 9236141
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
    Hayward C; Porteous ME; Brock DJ
    Hum Mutat; 1997; 10(4):280-9. PubMed ID: 9338581
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 25.