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 *

137 related articles for article (PubMed ID: 36261622)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series.
    Moleiro AF; Oliveira JS; Grangeia A; Faria P; Falcão-Reis F; Magalhães A; Silva SE
    Eur J Ophthalmol; 2024 Jan; 34(1):NP6-NP11. PubMed ID: 37157789
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 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 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.
    Hilton EN; Manson FD; Urquhart JE; Johnston JJ; Slavotinek AM; Hedera P; Stattin EL; Nordgren A; Biesecker LG; Black GC
    Hum Mol Genet; 2007 Jul; 16(14):1773-82. PubMed ID: 17517692
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. BCOR variants are associated with X-linked recessive partial epilepsy.
    Li X; Bian WJ; Liu XR; Wang J; Luo S; Li BM; Yi YH; Wu QY; Zhai QX; Gao LD; Zhang HF; He N; Liao WP;
    Epilepsy Res; 2022 Nov; 187():107036. PubMed ID: 36279688
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in
    Zhuang J; Chen C; Chen Y; Zeng S; Jiang Y; Wang Y; Chen X; Xie Y; Wang G
    Front Genet; 2022; 13():829613. PubMed ID: 35401667
    [No Abstract]   [Full Text] [Related]  

  • 18. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
    Ma AS; Grigg JR; Ho G; Prokudin I; Farnsworth E; Holman K; Cheng A; Billson FA; Martin F; Fraser C; Mowat D; Smith J; Christodoulou J; Flaherty M; Bennetts B; Jamieson RV
    Hum Mutat; 2016 Apr; 37(4):371-84. PubMed ID: 26694549
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Oculo-facio-cardio-dental (OFCD) syndrome: a case report.
    Nguyen TT; Truong ATH; Hoang VA; Van Huynh D; Van Nguyen T; Le CT; Dang DTP; Le MHN
    J Med Case Rep; 2024 Jan; 18(1):18. PubMed ID: 38178193
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.