BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 17377518)

  • 1. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
    Torres-Juan L; Rosell J; Morla M; Vidal-Pou C; García-Algas F; de la Fuente MA; Juan M; Tubau A; Bachiller D; Bernues M; Perez-Granero A; Govea N; Busquets X; Heine-Suñer D
    Eur J Hum Genet; 2007 Jun; 15(6):658-63. PubMed ID: 17377518
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
    Stoller JZ; Epstein JA
    Hum Mol Genet; 2005 Apr; 14(7):885-92. PubMed ID: 15703190
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
    Beaujard MP; Chantot S; Dubois M; Keren B; Carpentier W; Mabboux P; Whalen S; Vodovar M; Siffroi JP; Portnoï MF
    Eur J Med Genet; 2009; 52(5):321-7. PubMed ID: 19467348
    [TBL] [Abstract][Full Text] [Related]  

  • 4. TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy.
    Cabuk F; Karabulut HG; Tuncali T; Karademir S; Bozdayi M; Tükün A
    Turk J Pediatr; 2007; 49(1):61-8. PubMed ID: 17479646
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Microduplication 22q11.2: a new chromosomal syndrome.
    Portnoï MF
    Eur J Med Genet; 2009; 52(2-3):88-93. PubMed ID: 19254783
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.
    Conti E; Grifone N; Sarkozy A; Tandoi C; Marino B; Digilio MC; Mingarelli R; Pizzuti A; Dallapiccola B
    Eur J Hum Genet; 2003 Apr; 11(4):349-51. PubMed ID: 12700609
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fragile X syndrome and 22q11.2 microdeletion in the same sibship.
    Missirian C; Moncla A; Voelckel MA; Ravix V; Philip N
    Am J Med Genet; 2000 Dec; 95(4):358-60. PubMed ID: 11186890
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
    Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
    Eur J Hum Genet; 2007 Feb; 15(2):143-9. PubMed ID: 17106445
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Genetic and clinical characteristics of 22q11.2 deletion syndrome].
    Kozlova IuO; Zabnenkova VV; Shilova NV; Min'zhenkova ME; Antonenko VG; Kotlukova NP; Simonova LV; Kazanceva IA; Levchenko EG; Bombardirova TD; Zolotukhina TV; Poliakov AV
    Genetika; 2014 May; 50(5):602-10. PubMed ID: 25715476
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning.
    Cremonesi L; Foglieni B; Fermo I; Cozzi A; Paroni R; Ruggeri G; Belloli S; Levi S; Fargion S; Ferrari M; Arosio P
    Haematologica; 2003 Oct; 88(10):1110-6. PubMed ID: 14555306
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Concurrent microdeletion and duplication of 22q11.2.
    Blennow E; Lagerstedt K; Malmgren H; Sahlén S; Schoumans J; Anderlid B
    Clin Genet; 2008 Jul; 74(1):61-7. PubMed ID: 18445048
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Association of syndromic mental retardation and autism with 22q11.2 duplication.
    Lo-Castro A; Galasso C; Cerminara C; El-Malhany N; Benedetti S; Nardone AM; Curatolo P
    Neuropediatrics; 2009 Jun; 40(3):137-40. PubMed ID: 20020400
    [TBL] [Abstract][Full Text] [Related]  

  • 14. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
    Kirchhoff M; Bisgaard AM; Bryndorf T; Gerdes T
    Eur J Med Genet; 2007; 50(1):33-42. PubMed ID: 17090394
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
    Alberti A; Romano C; Falco M; Calì F; Schinocca P; Galesi O; Spalletta A; Di Benedetto D; Fichera M
    Clin Genet; 2007 Feb; 71(2):177-82. PubMed ID: 17250668
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
    Zweier C; Sticht H; Aydin-Yaylagül I; Campbell CE; Rauch A
    Am J Hum Genet; 2007 Mar; 80(3):510-7. PubMed ID: 17273972
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Developmental perspectives on copy number abnormalities of the 22q11.2 region.
    Tan TY; Gordon CT; Amor DJ; Farlie PG
    Clin Genet; 2010 Sep; 78(3):201-18. PubMed ID: 20497193
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
    Xu YJ; Chen S; Zhang J; Fang SH; Guo QQ; Wang J; Fu QH; Li F; Xu R; Sun K
    BMC Med Genet; 2014 Jul; 15():78. PubMed ID: 24998776
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.
    Borck G; Zarhrate M; Cluzeau C; Bal E; Bonnefont JP; Munnich A; Cormier-Daire V; Colleaux L
    Hum Mutat; 2006 Aug; 27(8):731-5. PubMed ID: 16799922
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.
    Prasad SE; Howley S; Murphy KC
    Dev Disabil Res Rev; 2008; 14(1):26-34. PubMed ID: 18636634
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.