BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 23345203)

  • 1. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
    Barber JC; Rosenfeld JA; Foulds N; Laird S; Bateman MS; Thomas NS; Baker S; Maloney VK; Anilkumar A; Smith WE; Banks V; Ellingwood S; Kharbutli Y; Mehta L; Eddleman KA; Marble M; Zambrano R; Crolla JA; Lamb AN
    Am J Med Genet A; 2013 Mar; 161A(3):487-500. PubMed ID: 23345203
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
    Barber JC; Rosenfeld JA; Graham JM; Kramer N; Lachlan KL; Bateman MS; Collinson MN; Stadheim BF; Turner CL; Gauthier JN; Reimschisel TE; Qureshi AM; Dabir TA; Humphreys MW; Marble M; Huang T; Beal SJ; Massiah J; Taylor EJ; Wynn SL
    Am J Med Genet A; 2015 Sep; 167A(9):2052-64. PubMed ID: 26097203
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
    Barber JC; Maloney VK; Huang S; Bunyan DJ; Cresswell L; Kinning E; Benson A; Cheetham T; Wyllie J; Lynch SA; Zwolinski S; Prescott L; Crow Y; Morgan R; Hobson E
    Eur J Hum Genet; 2008 Jan; 16(1):18-27. PubMed ID: 17940555
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly.
    Zhang Y; Li Y; Wang Y; Shan B; Duan Y
    Am J Med Genet A; 2013 Mar; 161A(3):561-5. PubMed ID: 23404914
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo 8p23.1 deletion in a patient with absence epilepsy.
    Akcakaya NH; Capan ÖY; Schulz H; Sander T; Caglayan SH; Yapıcı Z
    Epileptic Disord; 2017 Jun; 19(2):217-221. PubMed ID: 28533195
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].
    Mei M; Yang L; Zhan G; Wang H; Ma D; Zhou W; Huang G
    Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):460-3. PubMed ID: 25190168
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.
    Glancy M; Barnicoat A; Vijeratnam R; de Souza S; Gilmore J; Huang S; Maloney VK; Thomas NS; Bunyan DJ; Jackson A; Barber JC
    Eur J Hum Genet; 2009 Jan; 17(1):37-43. PubMed ID: 18716609
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.
    Eyüpoğlu FC; Sünnetçi D; Cine N; Savli H; Okten A; Açikgöz EG; Sönmez FM
    Genet Couns; 2014; 25(3):305-13. PubMed ID: 25365853
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.
    Cuscó I; del Campo M; Vilardell M; González E; Gener B; Galán E; Toledo L; Pérez-Jurado LA
    BMC Med Genet; 2008 Apr; 9():27. PubMed ID: 18405349
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4.
    Yu S; Zhou XG; Fiedler SD; Brawner SJ; Joyce JM; Liu HY
    Circ Cardiovasc Genet; 2011 Dec; 4(6):620-5. PubMed ID: 21933911
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Insight into the 8p23.1 duplication syndrome: Case report of a young women with infertility.
    El Karaaoui A; Ghazeeri G; Assaf N
    Heliyon; 2023 Apr; 9(4):e15515. PubMed ID: 37123967
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH.
    Kowalczyk M; Tomaszewska A; Podbioł-Palenta A; Constantinou M; Wawrzkiewicz-Witkowska A; Kowalski J; Kałużewski B; Zajączek S; Srebniak MI
    Cytogenet Genome Res; 2013; 139(1):9-16. PubMed ID: 22965227
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.
    Molck MC; Monteiro FP; Simioni M; Gil-da-Silva-Lopes VL
    J Dev Behav Pediatr; 2015 Sep; 36(7):544-8. PubMed ID: 26263419
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.
    Páez MT; Yamamoto T; Hayashi K; Yasuda T; Harada N; Matsumoto N; Kurosawa K; Furutani Y; Asakawa S; Shimizu N; Matsuoka R
    Am J Med Genet A; 2008 May; 146A(9):1158-65. PubMed ID: 18393291
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
    Margari L; Di Cosola ML; Buttiglione M; Pansini A; Buonadonna AL; Craig F; Cariola F; Petruzzelli MG; Gentile M
    Am J Med Genet A; 2012 Jul; 158A(7):1713-8. PubMed ID: 22639464
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
    Sanlaville D; Genevieve D; Bernardin C; Amiel J; Baumann C; de Blois MC; Cormier-Daire V; Gerard B; Gerard M; Le Merrer M; Parent P; Prieur F; Prieur M; Raoul O; Toutain A; Verloes A; Viot G; Romana S; Munnich A; Lyonnet S; Vekemans M; Turleau C
    Eur J Hum Genet; 2005 May; 13(5):690-3. PubMed ID: 15770228
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two new de novo interstitial duplications covering 2p14-p22.1: clinical and molecular analysis.
    Kasnauskiene J; Cimbalistiene L; Utkus A; Ciuladaite Z; Preiksaitiene E; Pečiulytė A; Kučinskas V
    Cytogenet Genome Res; 2013; 139(1):52-8. PubMed ID: 23036992
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
    Barber JC; Maloney V; Hollox EJ; Stuke-Sontheimer A; du Bois G; Daumiller E; Klein-Vogler U; Dufke A; Armour JA; Liehr T
    Eur J Hum Genet; 2005 Oct; 13(10):1131-6. PubMed ID: 16077733
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.
    Milunsky JM; Huang XL
    Clin Genet; 2003 Dec; 64(6):509-16. PubMed ID: 14986831
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.