BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

285 related articles for article (PubMed ID: 27774744)

  • 21. Clinical and genetic aspects of KBG syndrome.
    Low K; Ashraf T; Canham N; Clayton-Smith J; Deshpande C; Donaldson A; Fisher R; Flinter F; Foulds N; Fryer A; Gibson K; Hayes I; Hills A; Holder S; Irving M; Joss S; Kivuva E; Lachlan K; Magee A; McConnell V; McEntagart M; Metcalfe K; Montgomery T; Newbury-Ecob R; Stewart F; Turnpenny P; Vogt J; Fitzpatrick D; Williams M; ; Smithson S
    Am J Med Genet A; 2016 Nov; 170(11):2835-2846. PubMed ID: 27667800
    [TBL] [Abstract][Full Text] [Related]  

  • 22. SATB2-Associated Syndrome: a Case Report of a De Novo Nonsense Mutation in SATB2 from China and Review of Literature.
    Lv HY; Zheng RJ; Wang QL; Ren PS; Jin LH; Gu XL; Li LX
    Clin Lab; 2018 Apr; 64(4):627-637. PubMed ID: 29739092
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
    Tegay DH; Chan KK; Leung L; Wang C; Burkett S; Stone G; Stanyon R; Toriello HV; Hatchwell E
    Clin Genet; 2009 Mar; 75(3):259-64. PubMed ID: 19170718
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.
    Fontana P; Tortora C; Petillo R; Falco M; Miniero M; De Brasi D; Pisanti MA
    Am J Med Genet A; 2016 Sep; 170(9):2445-8. PubMed ID: 27374896
    [TBL] [Abstract][Full Text] [Related]  

  • 25. SATB2-LEMD2 interaction links nuclear shape plasticity to regulation of cognition-related genes.
    Feurle P; Abentung A; Cera I; Wahl N; Ablinger C; Bucher M; Stefan E; Sprenger S; Teis D; Fischer A; Laighneach A; Whitton L; Morris DW; Apostolova G; Dechant G
    EMBO J; 2021 Feb; 40(3):e103701. PubMed ID: 33319920
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
    Zarate YA; Örsell JL; Bosanko K; Srikanth S; Cascio L; Pauly R; Boccuto L
    Metab Brain Dis; 2021 Jun; 36(5):1049-1056. PubMed ID: 33661512
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.
    Kurosaka H; Yamamoto S; Hirasawa K; Yanagishita T; Fujioka K; Yagasaki H; Nagata M; Ishihara Y; Yonei A; Asano Y; Nagata N; Tsujimoto T; Inubushi T; Yamamoto T; Sakai N; Yamashiro T
    Am J Med Genet A; 2023 Jul; 191(7):1984-1989. PubMed ID: 37141439
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
    Kuechler A; Buysse K; Clayton-Smith J; Le Caignec C; David A; Engels H; Kohlhase J; Mari F; Mortier G; Renieri A; Wieczorek D
    Am J Med Genet A; 2011 Aug; 155A(8):1857-64. PubMed ID: 21739578
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The dental phenotype of primary dentition in SATB2-associated syndrome: a report of three cases and literature review.
    Li X; Ye X; Su J
    BMC Oral Health; 2022 Nov; 22(1):522. PubMed ID: 36457071
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay].
    Arroyo-Carrera I; de Zaldívar-Tristancho MS; Martín-Fernández R; Hernández-Martín R; López-Lafuente A; Rodríguez-Revenga L
    Rev Neurol; 2015 May; 60(10):453-6. PubMed ID: 25952600
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genes regulated by SATB2 during neurodevelopment contribute to schizophrenia and educational attainment.
    Whitton L; Apostolova G; Rieder D; Dechant G; Rea S; Donohoe G; Morris DW
    PLoS Genet; 2018 Jul; 14(7):e1007515. PubMed ID: 30040823
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
    Goldenberg A; Riccardi F; Tessier A; Pfundt R; Busa T; Cacciagli P; Capri Y; Coutton C; Delahaye-Duriez A; Frebourg T; Gatinois V; Guerrot AM; Genevieve D; Lecoquierre F; Jacquette A; Khau Van Kien P; Leheup B; Marlin S; Verloes A; Michaud V; Nadeau G; Mignot C; Parent P; Rossi M; Toutain A; Schaefer E; Thauvin-Robinet C; Van Maldergem L; Thevenon J; Satre V; Perrin L; Vincent-Delorme C; Sorlin A; Missirian C; Villard L; Mancini J; Saugier-Veber P; Philip N
    Am J Med Genet A; 2016 Nov; 170(11):2847-2859. PubMed ID: 27605097
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
    Bengani H; Handley M; Alvi M; Ibitoye R; Lees M; Lynch SA; Lam W; Fannemel M; Nordgren A; Malmgren H; Kvarnung M; Mehta S; McKee S; Whiteford M; Stewart F; Connell F; Clayton-Smith J; Mansour S; Mohammed S; Fryer A; Morton J; ; Grozeva D; Asam T; Moore D; Sifrim A; McRae J; Hurles ME; Firth HV; Raymond FL; Kini U; Nellåker C; Ddd Study ; FitzPatrick DR
    Genet Med; 2017 Aug; 19(8):900-908. PubMed ID: 28151491
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.
    Britanova O; Depew MJ; Schwark M; Thomas BL; Miletich I; Sharpe P; Tarabykin V
    Am J Hum Genet; 2006 Oct; 79(4):668-78. PubMed ID: 16960803
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
    Hyder Z; Fairclough A; Douzgou S
    Clin Dysmorphol; 2019 Jul; 28(3):131-136. PubMed ID: 31045593
    [TBL] [Abstract][Full Text] [Related]  

  • 36. First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome.
    Yu N; Shin S; Lee KA
    Ann Lab Med; 2015 Mar; 35(2):275-8. PubMed ID: 25729738
    [No Abstract]   [Full Text] [Related]  

  • 37. Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome.
    Snijders Blok L; Goosen YM; van Haaften L; van Hulst K; Fisher SE; Brunner HG; Egger JIM; Kleefstra T
    Genes Brain Behav; 2021 Sep; 20(7):e12761. PubMed ID: 34241948
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
    Keen C; Samango-Sprouse C; Dubbs H; Zackai EH
    Am J Med Genet A; 2017 Mar; 173(3):762-765. PubMed ID: 28211987
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
    Papoulidis I; Paspaliaris V; Papageorgiou E; Siomou E; Dagklis T; Sotiriou S; Thomaidis L; Manolakos E
    Cytogenet Genome Res; 2015; 145(1):19-24. PubMed ID: 25925190
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A recognizable phenotype related to 19p13.12 microdeletion.
    de Souza LC; Sgardioli IC; Gil-da-Silva-Lopes VL; Vieira TP
    Am J Med Genet A; 2018 Aug; 176(8):1753-1759. PubMed ID: 30055032
    [TBL] [Abstract][Full Text] [Related]  

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