BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 12446365)

  • 21. 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]  

  • 22. Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.
    Pepe G; Lapini I; Evangelisti L; Attanasio M; Giusti B; Lucarini L; Fattori R; Pellicanò G; Scrivanti M; Porciani MC; Abbate R; Gensini GF
    Mol Vis; 2007 Nov; 13():2242-7. PubMed ID: 18087243
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The clinical spectrum of complete FBN1 allele deletions.
    Hilhorst-Hofstee Y; Hamel BC; Verheij JB; Rijlaarsdam ME; Mancini GM; Cobben JM; Giroth C; Ruivenkamp CA; Hansson KB; Timmermans J; Moll HA; Breuning MH; Pals G
    Eur J Hum Genet; 2011 Mar; 19(3):247-52. PubMed ID: 21063442
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.
    Edwards MJ; Challinor CJ; Colley PW; Roberts J; Partington MW; Hollway GE; Kozman HM; Mulley JC
    Am J Med Genet; 1994 Oct; 53(1):65-71. PubMed ID: 7802039
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.
    Meng B; Li H; Yang T; Huang S; Sun X; Yuan H
    Mol Vis; 2011; 17():2421-7. PubMed ID: 21976953
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.
    Turner CL; Emery H; Collins AL; Howarth RJ; Yearwood CM; Cross E; Duncan PJ; Bunyan DJ; Harvey JF; Foulds NC
    Am J Med Genet A; 2009 Feb; 149A(2):161-70. PubMed ID: 19161152
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.
    Stephenson KAJ; Dockery A; O'Keefe M; Green A; Farrar GJ; Keegan DJ
    Eye (Lond); 2020 Apr; 34(4):690-694. PubMed ID: 31527767
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments.
    Booms P; Tiecke F; Rosenberg T; Hagemeier C; Robinson PN
    Hum Genet; 2000 Sep; 107(3):216-24. PubMed ID: 11071382
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
    Hayward C; Porteous ME; Brock DJ
    Mol Cell Probes; 1994 Aug; 8(4):325-7. PubMed ID: 7870075
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.
    Chen ZX; Chen TH; Zhang M; Chen JH; Lan LN; Deng M; Zheng JL; Jiang YX
    Hum Mutat; 2021 Dec; 42(12):1637-1647. PubMed ID: 34550612
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical and genetic findings in Chinese families with congenital ectopia lentis.
    Liu X; Niu L; Zhang L; Jiang L; Liu K; Wu X; Liu X; Wang J
    Mol Genet Genomic Med; 2023 May; 11(5):e2140. PubMed ID: 36670079
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.
    Yin Y; Liu XH; Li XH; Fan N; Lei DF; Wang Y; Cai SP; Zhou XM; Chen XM; Liu XY
    Genet Mol Res; 2015 Apr; 14(2):4125-32. PubMed ID: 25966184
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.
    Grau U; Klein HG; Detter C; Mair H; Welz A; Seidel D; Reichart B
    Hum Mutat; 1998; 12(2):137. PubMed ID: 10694921
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.
    Yu R; Lai Z; Zhou W; Ti DD; Zhang XN
    Am J Ophthalmol; 2006 Jun; 141(6):1136-8. PubMed ID: 16765689
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. 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]  

  • 40. Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
    Grange T; Aubart M; Langeois M; Benarroch L; Arnaud P; Milleron O; Eliahou L; Gross MS; Hanna N; Boileau C; Gouya L; Jondeau G
    Genes (Basel); 2020 May; 11(5):. PubMed ID: 32443863
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.