BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

395 related articles for article (PubMed ID: 24035902)

  • 1. Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.
    Li Z; Liu J; Li H; Peng Y; Lv W; Long Z; Liang D; Wu L
    Gene; 2013 Dec; 531(2):502-5. PubMed ID: 24035902
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.
    Demeer B; Andrieux J; Receveur A; Morin G; Petit F; Julia S; Plessis G; Martin-Coignard D; Delobel B; Firth HV; Thuresson AC; Lanco Dosen S; Sjörs K; Le Caignec C; Devriendt K; Mathieu-Dramard M
    Eur J Med Genet; 2013 Jan; 56(1):26-31. PubMed ID: 23063576
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
    Thienpont B; Béna F; Breckpot J; Philip N; Menten B; Van Esch H; Scalais E; Salamone JM; Fong CT; Kussmann JL; Grange DK; Gorski JL; Zahir F; Yong SL; Morris MM; Gimelli S; Fryns JP; Mortier G; Friedman JM; Villard L; Bottani A; Vermeesch JR; Cheung SW; Devriendt K
    J Med Genet; 2010 Mar; 47(3):155-61. PubMed ID: 19833603
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.
    Lee CG; Cho E; Ahn YM
    Eur J Med Genet; 2016 Apr; 59(4):210-4. PubMed ID: 26873618
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.
    Mattina T; Palumbo O; Stallone R; Pulvirenti RM; Di Dio L; Pavone P; Carella M; Pavone L
    Eur J Med Genet; 2012 Dec; 55(12):747-52. PubMed ID: 23032921
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.
    Nguyen-Minh S; Drossel K; Horn D; Rost I; Spors B; Kaindl AM
    Gene; 2013 Jul; 523(1):92-8. PubMed ID: 23566840
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.
    Marangi G; Leuzzi V; Orteschi D; Grimaldi ME; Lecce R; Neri G; Zollino M
    Am J Med Genet A; 2008 Sep; 146A(18):2313-7. PubMed ID: 18688873
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.
    Sireteanu A; Braha E; Popescu R; Gramescu M; Gorduza EV; Rusu C
    Rev Med Chir Soc Med Nat Iasi; 2013; 117(3):731-4. PubMed ID: 24502041
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An Xp21.3p11.4 duplication observed in a boy with intellectual deficiency and speech delay and his asymptomatic mother.
    Wu L; Liu J; Lv W; Wen J; Xia Y; Liang D
    Birth Defects Res A Clin Mol Teratol; 2013 Jul; 97(7):467-70. PubMed ID: 23828844
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
    Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR
    J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic manifestations of copy number variation in chromosome 16p13.11.
    Nagamani SC; Erez A; Bader P; Lalani SR; Scott DA; Scaglia F; Plon SE; Tsai CH; Reimschisel T; Roeder E; Malphrus AD; Eng PA; Hixson PM; Kang SH; Stankiewicz P; Patel A; Cheung SW
    Eur J Hum Genet; 2011 Mar; 19(3):280-6. PubMed ID: 21150890
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.
    Balci S; Ergün MA; Yüksel-Konuk EB; Bartsch O
    Turk J Pediatr; 2008; 50(3):265-8. PubMed ID: 18773673
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
    de Ravel T; Aerssens P; Vermeesch JR; Fryns JP
    Eur J Med Genet; 2005; 48(3):355-9. PubMed ID: 16179232
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
    Hancarova M; Vejvalkova S; Trkova M; Drabova J; Dleskova A; Vlckova M; Sedlacek Z
    Gene; 2013 Mar; 516(1):158-61. PubMed ID: 23266801
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.
    Kim SR; Kim HJ; Kim YJ; Kwon JY; Kim JW; Kim SH
    Ann Clin Lab Sci; 2013; 43(4):450-6. PubMed ID: 24247805
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.
    Tüysüz B; van Bon BWM; Alp Z; Güzel Z; Veltman JA; de Vries BBA
    Clin Dysmorphol; 2012 Oct; 21(4):204-207. PubMed ID: 22664659
    [No Abstract]   [Full Text] [Related]  

  • 17. A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q.
    Barber JC; Brasch-Andersen C; Maloney VK; Huang S; Bateman MS; Graakjaer J; Heinl UD; Fagerberg C
    Cytogenet Genome Res; 2013; 139(1):59-64. PubMed ID: 23038475
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature.
    Herriges JC; Arch EM; Burgio PA; Baldwin EE; LaGrave D; Lamb AN; Toydemir RM
    J Child Neurol; 2019 Feb; 34(2):86-93. PubMed ID: 30458662
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
    Del Refugio Rivera-Vega M; Gómez-Del Angel LA; Valdes-Miranda JM; Pérez-Cabrera A; Gonzalez-Huerta LM; Toral-López J; Cuevas-Covarrubias S
    Cytogenet Genome Res; 2015; 145(1):1-5. PubMed ID: 25870946
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 20.