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 *

153 related articles for article (PubMed ID: 31048080)

  • 1. Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.
    Redwood A; Douzgou S; Waller S; Ramsden S; Roberts A; Bonin H; Lloyd IC; Ashworth J; Black GCM; Clayton-Smith J
    Eur J Med Genet; 2020 Feb; 63(2):103658. PubMed ID: 31048080
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
    Ragge N; Isidor B; Bitoun P; Odent S; Giurgea I; Cogné B; Deb W; Vincent M; Le Gall J; Morton J; Lim D; ; Le Meur G; Zazo Seco C; Zafeiropoulou D; Bax D; Zwijnenburg P; Arteche A; Swafiri ST; Cleaver R; McEntagart M; Kini U; Newman W; Ayuso C; Corton M; Herenger Y; Jeanne M; Calvas P; Chassaing N
    Hum Genet; 2019 Sep; 138(8-9):1051-1069. PubMed ID: 29974297
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion.
    Di Stefano C; Lombardo B; Fabbricatore C; Munno C; Caliendo I; Gallo F; Pastore L
    Gene; 2015 Apr; 559(2):203-6. PubMed ID: 25620158
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.
    Zhu X; Dai FR; Wang J; Zhang Y; Tan ZP; Zhang Y
    Gene; 2015 Oct; 571(1):142-4. PubMed ID: 26196063
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.
    Kondo Y; Saitsu H; Miyamoto T; Nishiyama K; Tsurusaki Y; Doi H; Miyake N; Ryoo NK; Kim JH; Yu YS; Matsumoto N
    J Hum Genet; 2012 Mar; 57(3):197-201. PubMed ID: 22301464
    [TBL] [Abstract][Full Text] [Related]  

  • 6. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
    Hilton E; Johnston J; Whalen S; Okamoto N; Hatsukawa Y; Nishio J; Kohara H; Hirano Y; Mizuno S; Torii C; Kosaki K; Manouvrier S; Boute O; Perveen R; Law C; Moore A; Fitzpatrick D; Lemke J; Fellmann F; Debray FG; Dastot-Le-Moal F; Gerard M; Martin J; Bitoun P; Goossens M; Verloes A; Schinzel A; Bartholdi D; Bardakjian T; Hay B; Jenny K; Johnston K; Lyons M; Belmont JW; Biesecker LG; Giurgea I; Black G
    Eur J Hum Genet; 2009 Oct; 17(10):1325-35. PubMed ID: 19367324
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
    Feberwee HE; Feenstra I; Oberoi S; Sama IE; Ockeloen CW; Clum F; Slavotinek A; Kuijpers MA; Dooijes D; Kuijpers-Jagtman AM; Kleefstra T; Carels CE
    Clin Genet; 2014 Feb; 85(2):194-7. PubMed ID: 23557072
    [No Abstract]   [Full Text] [Related]  

  • 8. Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.
    Zhou Y; Wojcik A; Sanders VR; Rahmani B; Kurup SP
    Int Ophthalmol; 2018 Dec; 38(6):2677-2682. PubMed ID: 29058245
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
    Horn D; Chyrek M; Kleier S; Lüttgen S; Bolz H; Hinkel GK; Korenke GC; Riess A; Schell-Apacik C; Tinschert S; Wieczorek D; Gillessen-Kaesbach G; Kutsche K
    Eur J Hum Genet; 2005 May; 13(5):563-9. PubMed ID: 15770227
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.
    Surapornsawasd T; Ogawa T; Tsuji M; Moriyama K
    J Hum Genet; 2014 Jun; 59(6):314-20. PubMed ID: 24694763
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Oculofaciocardiodental syndrome: a rare case and review of the literature.
    Davoody A; Chen IP; Nanda R; Uribe F; Reichenberger EJ
    Cleft Palate Craniofac J; 2012 Sep; 49(5):e55-60. PubMed ID: 21740180
    [TBL] [Abstract][Full Text] [Related]  

  • 12. OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR.
    Hamline MY; Corcoran CM; Wamstad JA; Miletich I; Feng J; Lohr JL; Hemberger M; Sharpe PT; Gearhart MD; Bardwell VJ
    Dev Biol; 2020 Dec; 468(1-2):110-132. PubMed ID: 32692983
    [TBL] [Abstract][Full Text] [Related]  

  • 13. BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.
    Kantaputra PN
    J Hum Genet; 2014 Jun; 59(6):297-9. PubMed ID: 24785690
    [No Abstract]   [Full Text] [Related]  

  • 14. Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.
    O'Byrne JJ; Laffan E; Murray DJ; Reardon W
    Am J Med Genet A; 2017 May; 173(5):1374-1377. PubMed ID: 28317252
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
    Ng D; Thakker N; Corcoran CM; Donnai D; Perveen R; Schneider A; Hadley DW; Tifft C; Zhang L; Wilkie AO; van der Smagt JJ; Gorlin RJ; Burgess SM; Bardwell VJ; Black GC; Biesecker LG
    Nat Genet; 2004 Apr; 36(4):411-6. PubMed ID: 15004558
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.
    Mezad-Koursh D; Rosenfeld E; Bachar Zipori A; Zur D; Elhanan E; Ben-Shachar S
    Eur J Hum Genet; 2023 Jan; 31(1):125-127. PubMed ID: 36261622
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of nuclear localization signals within the human BCOR protein.
    Surapornsawasd T; Ogawa T; Moriyama K
    FEBS Lett; 2015 Oct; 589(21):3313-20. PubMed ID: 26054978
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
    Kraus C; Uebe S; Thiel CT; Ekici AB; Reis A; Zweier C
    Am J Med Genet A; 2018 Dec; 176(12):2872-2876. PubMed ID: 30450806
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.
    Hu Q; Mai J; Xiang Q; Zhou B; Liu S; Wang J
    BMC Pediatr; 2022 Feb; 22(1):82. PubMed ID: 35130870
    [TBL] [Abstract][Full Text] [Related]  

  • 20. New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report.
    Kato J; Kushima K; Kushima F
    Medicine (Baltimore); 2018 Dec; 97(49):e13444. PubMed ID: 30544426
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.