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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

483 related articles for article (PubMed ID: 19208450)

  • 21. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX
    Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.
    Hayashi T; Gekka T; Omoto S; Takeuchi T; Kitahara K
    Ophthalmic Res; 2005; 37(4):214-24. PubMed ID: 16006781
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
    Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L
    Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
    Vreeswijk MP; Kraan JN; van der Klift HM; Vink GR; Cornelisse CJ; Wijnen JT; Bakker E; van Asperen CJ; Devilee P
    Hum Mutat; 2009 Jan; 30(1):107-14. PubMed ID: 18693280
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
    Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
    Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.
    Bourbon M; Duarte MA; Alves AC; Medeiros AM; Marques L; Soutar AK
    J Med Genet; 2009 May; 46(5):352-7. PubMed ID: 19411563
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants.
    Nissen H; Hansen AB; Guldberg P; Petersen NE; Hansen TS; Hørder M
    Atherosclerosis; 1997 Jan; 128(1):75-83. PubMed ID: 9051200
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.
    Homolova K; Zavadakova P; Doktor TK; Schroeder LD; Kozich V; Andresen BS
    Hum Mutat; 2010 Apr; 31(4):437-44. PubMed ID: 20120036
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis.
    Pio MG; Molina MF; Siffo S; Chiesa A; Rivolta CM; Targovnik HM
    Mol Cell Endocrinol; 2021 Feb; 522():111124. PubMed ID: 33321114
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].
    Lin J; Wang LY; Liu S; Pan XD; Du LP; Shi FR; Qin YW; Zhao Q; Guo HY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):14-8. PubMed ID: 14767901
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genetic interactions between the 5' and 3' splice site consensus sequences and U6 snRNA during the second catalytic step of pre-mRNA splicing.
    Collins CA; Guthrie C
    RNA; 2001 Dec; 7(12):1845-54. PubMed ID: 11780639
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
    Vega AI; Pérez-Cerdá C; Desviat LR; Matthijs G; Ugarte M; Pérez B
    Hum Mutat; 2009 May; 30(5):795-803. PubMed ID: 19235233
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Nucleotide sequence composition adjacent to intronic splice sites improves splicing efficiency via its effect on pre-mRNA local folding in fungi.
    Zafrir Z; Tuller T
    RNA; 2015 Oct; 21(10):1704-18. PubMed ID: 26246046
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
    Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
    Hum Mutat; 1999; 14(5):359-68. PubMed ID: 10533061
    [TBL] [Abstract][Full Text] [Related]  

  • 35. LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.
    Liguori R; Bianco AM; Argiriou A; Pauciullo P; Giannino A; Rubba P; De Simone V
    Hum Mutat; 2001 May; 17(5):433. PubMed ID: 11317362
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.
    Oeffner F; Martinez F; Schaffer J; Salhi A; Monfort S; Oltra S; Neidel U; Bornholdt D; van Bon B; König A; Happle R; Grzeschik KH
    Exp Dermatol; 2011 May; 20(5):447-9. PubMed ID: 21426410
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
    Bulman MP; Harries LW; Hansen T; Shepherd M; Kelly WF; Hattersley AT; Ellard S
    Diabetologia; 2002 Oct; 45(10):1463-7. PubMed ID: 12378390
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.
    Costantino L; Rusconi D; Soldà G; Seia M; Paracchini V; Porcaro L; Asselta R; Colombo C; Duga S
    Am J Respir Cell Mol Biol; 2013 May; 48(5):619-25. PubMed ID: 23349053
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Ultra-deep sequencing reveals pre-mRNA splicing as a sequence driven high-fidelity process.
    Reynolds DJ; Hertel KJ
    PLoS One; 2019; 14(10):e0223132. PubMed ID: 31581208
    [TBL] [Abstract][Full Text] [Related]  

  • 40. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
    Gurvich OL; Tuohy TM; Howard MT; Finkel RS; Medne L; Anderson CB; Weiss RB; Wilton SD; Flanigan KM
    Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 25.