BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

296 related articles for article (PubMed ID: 32449309)

  • 21. Type-I umbilical-systemic shunt with abnormal connection to azygos vein in fetus with de-novo TBX5 mutation related to Holt-Oram syndrome.
    Achiron R; Har-Toov J; Kivilevitch Z
    Ultrasound Obstet Gynecol; 2024 May; 63(5):709-711. PubMed ID: 38197531
    [No Abstract]   [Full Text] [Related]  

  • 22. Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.
    Gruenauer-Kloevekorn C; Froster UG
    Ann Genet; 2003; 46(1):19-23. PubMed ID: 12818525
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Rare cardiac defect in Holt-Oram syndrome.
    Sinha R; Nema C
    Cardiovasc J Afr; 2012 Mar; 23(2):e3-4. PubMed ID: 22447508
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome.
    Li B; Chen S; Sun K; Xu R; Wu Y
    DNA Cell Biol; 2018 Apr; 37(4):398-404. PubMed ID: 29461882
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.
    Koçak Eker H; Altunoglu U; Toksoy G; Kayserili H
    Clin Dysmorphol; 2016 Oct; 25(4):192-4. PubMed ID: 27552067
    [No Abstract]   [Full Text] [Related]  

  • 26. Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome.
    Miyao N; Hirono K; Hata Y; Yoshimura N; Ichida F
    Pediatr Int; 2019 Jun; 61(6):607-609. PubMed ID: 31215120
    [No Abstract]   [Full Text] [Related]  

  • 27. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.
    Alby C; Bessieres B; Bieth E; Attie-Bitach T; Fermont L; Citony I; Razavi F; Vekemans M; Escande F; Manouvrier S; Malan V; Amiel J
    Am J Med Genet A; 2013 Jul; 161A(7):1797-802. PubMed ID: 23713051
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome.
    Wang DG; Dong XS; Xiong Y; Li ZM; Xie YJ; Liang SH; Huang TH
    Am J Med Genet A; 2022 Jan; 188(1):58-70. PubMed ID: 34490705
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.
    Smemo S; Campos LC; Moskowitz IP; Krieger JE; Pereira AC; Nobrega MA
    Hum Mol Genet; 2012 Jul; 21(14):3255-63. PubMed ID: 22543974
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Holt-Oram syndrome associated with anomalies of the feet.
    Garavelli L; De Brasi D; Verri R; Guareschi E; Cariola F; Melis D; Calcagno G; Salvatore F; Unger S; Sebastio G; Albertini G; Rivieri F; Soli F; Superti-Furga A; Gentile M
    Am J Med Genet A; 2008 May; 146A(9):1185-9. PubMed ID: 18351627
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
    Boogerd CJ; Dooijes D; Ilgun A; Mathijssen IB; Hordijk R; van de Laar IM; Rump P; Veenstra-Knol HE; Moorman AF; Barnett P; Postma AV
    Cardiovasc Res; 2010 Oct; 88(1):130-9. PubMed ID: 20519243
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation.
    Sulaiman FA; Nishimoto S; Murphy GR; Kucharska A; Butterfield NC; Newbury-Ecob R; Logan MP
    PLoS Genet; 2016 Dec; 12(12):e1006521. PubMed ID: 27992425
    [TBL] [Abstract][Full Text] [Related]  

  • 33. TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.
    Reamon-Buettner SM; Borlak J
    Hum Mutat; 2004 Jul; 24(1):104. PubMed ID: 15221798
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
    Borozdin W; Bravo Ferrer Acosta AM; Bamshad MJ; Botzenhart EM; Froster UG; Lemke J; Schinzel A; Spranger S; McGaughran J; Wand D; Chrzanowska KH; Kohlhase J
    Hum Mutat; 2006 Sep; 27(9):975-6. PubMed ID: 16917909
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
    van Ouwerkerk AF; Bosada FM; van Duijvenboden K; Houweling AC; Scholman KT; Wakker V; Allaart CP; Uhm JS; Mathijssen IB; Baartscheer T; Postma AV; Barnett P; Verkerk AO; Boukens BJ; Christoffels VM
    Circulation; 2022 Feb; 145(8):606-619. PubMed ID: 35113653
    [TBL] [Abstract][Full Text] [Related]  

  • 36. HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1.
    Ghosh TK; Aparicio-Sánchez JJ; Buxton S; Brook JD
    Sci Rep; 2019 Nov; 9(1):17992. PubMed ID: 31784580
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.
    Bogarapu S; Bleyl SB; Calhoun A; Viskochil D; Saarel EV; Everitt MD; Frank DU
    Am J Med Genet A; 2014 May; 164A(5):1304-9. PubMed ID: 24664963
    [TBL] [Abstract][Full Text] [Related]  

  • 38.
    Azab B; Aburizeg D; Ji W; Jeffries L; Isbeih NJ; Al-Akily AS; Mohammad H; Osba YA; Shahin MA; Dardas Z; Hatmal MM; Al-Ammouri I; Lakhani S
    Mol Med Rep; 2022 Jun; 25(6):. PubMed ID: 35514310
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.
    Walencka Z; Jamsheer A; Surmiak P; Baumert M; Jezela-Stanek A; Witek A; Materna-Kiryluk A; Latos-Bieleńska A; Socha M; Sowińska-Seidler A
    Ginekol Pol; 2016; 87(10):706-710. PubMed ID: 27958623
    [TBL] [Abstract][Full Text] [Related]  

  • 40. TBX5: A Key Regulator of Heart Development.
    Steimle JD; Moskowitz IP
    Curr Top Dev Biol; 2017; 122():195-221. PubMed ID: 28057264
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.