BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

93 related articles for article (PubMed ID: 30733659)

  • 1. An Interstitial 17q11.2 de novo Deletion Involving the
    Lintas C; Sacco R; Tabolacci C; Brogna C; Canali M; Picinelli C; Tomaiuolo P; Castronovo P; Baccarin M; Persico AM
    Mol Syndromol; 2019 Jan; 9(5):247-252. PubMed ID: 30733659
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
    Osio D; Rankin J; Koillinen H; Reynolds A; Van Esch H
    Am J Med Genet A; 2018 Jan; 176(1):209-213. PubMed ID: 29130599
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.
    Venturin M; Moncini S; Villa V; Russo S; Bonati MT; Larizza L; Riva P
    Neurogenetics; 2006 Mar; 7(1):59-66. PubMed ID: 16425041
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.
    Moncini S; Castronovo P; Murgia A; Russo S; Bedeschi MF; Lunghi M; Selicorni A; Bonati MT; Riva P; Venturin M
    J Hum Genet; 2016 Apr; 61(4):283-93. PubMed ID: 26657932
    [TBL] [Abstract][Full Text] [Related]  

  • 5. hnRNPA2/B1 and nELAV proteins bind to a specific U-rich element in CDK5R1 3'-UTR and oppositely regulate its expression.
    Zuccotti P; Colombrita C; Moncini S; Barbieri A; Lunghi M; Gelfi C; De Palma S; Nicolin A; Ratti A; Venturin M; Riva P
    Biochim Biophys Acta; 2014 Jun; 1839(6):506-16. PubMed ID: 24792867
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.
    Fannemel M; Barøy T; Holmgren A; Rødningen OK; Haugsand TM; Hansen B; Frengen E; Misceo D
    Eur J Med Genet; 2014 Sep; 57(9):513-9. PubMed ID: 24911659
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole Gene Deletion of
    Lopes F; Soares G; Gonçalves-Rocha M; Pinto-Basto J; Maciel P
    Front Genet; 2017; 8():143. PubMed ID: 29062322
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cloning and spatio-temporal expression of porcine CDK5 and CDK5R1(p35) genes.
    Long H; Zhao S; Lei T; Han J; Yuan J; Qi Y; Yang Z
    Anim Biotechnol; 2009; 20(3):133-43. PubMed ID: 19544209
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
    Harvard C; Malenfant P; Koochek M; Creighton S; Mickelson EC; Holden JJ; Lewis ME; Rajcan-Separovic E
    Clin Genet; 2005 Apr; 67(4):341-51. PubMed ID: 15733271
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.
    Fanizza I; Bertuzzo S; Beri S; Scalera E; Massagli A; Sali ME; Giorda R; Bonaglia MC
    Eur J Med Genet; 2014 Jul; 57(7):334-8. PubMed ID: 24780630
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.
    Pacault M; Nizon M; Pichon O; Vincent M; Le Caignec C; Isidor B
    Eur J Med Genet; 2019 Dec; 62(12):103586. PubMed ID: 30472483
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.
    Di Benedetto D; Di Vita G; Romano C; Giudice ML; Vitello GA; Zingale M; Grillo L; Castiglia L; Musumeci SA; Fichera M
    Mol Cytogenet; 2013 Jan; 6(1):4. PubMed ID: 23324214
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Copy number variations in Saudi family with intellectual disability and epilepsy.
    Naseer MI; Chaudhary AG; Rasool M; Kalamegam G; Ashgan FT; Assidi M; Ahmed F; Ansari SA; Zaidi SK; Jan MM; Al-Qahtani MH
    BMC Genomics; 2016 Oct; 17(Suppl 9):757. PubMed ID: 27766957
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.
    Palumbo O; D'Agruma L; Minenna AF; Palumbo P; Stallone R; Palladino T; Zelante L; Carella M
    Gene; 2013 Mar; 516(1):107-13. PubMed ID: 23287644
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multiple Layers of
    Spreafico M; Grillo B; Rusconi F; Battaglioli E; Venturin M
    Int J Mol Sci; 2018 Jul; 19(7):. PubMed ID: 29997370
    [TBL] [Abstract][Full Text] [Related]  

  • 17. First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.
    Huynh MT; Tosca L; Petit F; Martinovic J; Proust A; Bouligand J; Amiel J; Azria E; Parisot F; Benoit V; Receveur A; Drévillon L; Tachdjian G; Brisset S
    Eur J Med Genet; 2018 Jun; 61(6):322-328. PubMed ID: 29366875
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.
    Tassano E; Accogli A; Panigada S; Ronchetto P; Cuoco C; Gimelli G
    Mol Cytogenet; 2014; 7():49. PubMed ID: 25076984
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.
    Poisson A; Lesca G; Chatron N; Favre E; Cottin V; Gamondes D; Sanlaville D; Edery P; Giraud S; Demily C; Dupuis-Girod S
    Eur J Med Genet; 2019 Nov; 62(11):103565. PubMed ID: 30389587
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients.
    Hannachi H; Mougou S; Benabdallah I; Soayh N; Kahloul N; Gaddour N; Le Lorc'h M; Sanlaville D; El Ghezal H; Saad A
    Cytogenet Genome Res; 2013; 140(1):1-11. PubMed ID: 23635516
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.