BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

564 related articles for article (PubMed ID: 20197726)

  • 1. [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
    Seo EJ; Jun KR; Yoo HW; Yoo HK; Lee JO
    Korean J Lab Med; 2010 Feb; 30(1):70-5. PubMed ID: 20197726
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.
    Cobb W; Anderson A; Turner C; Hoffman RD; Schonberg S; Levin SW
    Eur J Med Genet; 2010; 53(6):415-8. PubMed ID: 20832509
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.
    Tyshchenko N; Hackmann K; Gerlach EM; Neuhann T; Schrock E; Tinschert S
    Eur J Med Genet; 2009; 52(2-3):128-30. PubMed ID: 19298871
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
    Vanlerberghe C; Petit F; Malan V; Vincent-Delorme C; Bouquillon S; Boute O; Holder-Espinasse M; Delobel B; Duban B; Vallee L; Cuisset JM; Lemaitre MP; Vantyghem MC; Pigeyre M; Lanco-Dosen S; Plessis G; Gerard M; Decamp M; Mathieu M; Morin G; Jedraszak G; Bilan F; Gilbert-Dussardier B; Fauvert D; Roume J; Cormier-Daire V; Caumes R; Puechberty J; Genevieve D; Sarda P; Pinson L; Blanchet P; Lemeur N; Sheth F; Manouvrier-Hanu S; Andrieux J
    Eur J Med Genet; 2015 Mar; 58(3):140-7. PubMed ID: 25596525
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.
    Malan V; Raoul O; Firth HV; Royer G; Turleau C; Bernheim A; Willatt L; Munnich A; Vekemans M; Lyonnet S; Cormier-Daire V; Colleaux L
    J Med Genet; 2009 Sep; 46(9):635-40. PubMed ID: 19126570
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
    Rajcan-Separovic E; Harvard C; Liu X; McGillivray B; Hall JG; Qiao Y; Hurlburt J; Hildebrand J; Mickelson EC; Holden JJ; Lewis ME
    J Med Genet; 2007 Apr; 44(4):269-76. PubMed ID: 16963482
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 3q29 interstitial microduplication: a new syndrome in a three-generation family.
    Lisi EC; Hamosh A; Doheny KF; Squibb E; Jackson B; Galczynski R; Thomas GH; Batista DA
    Am J Med Genet A; 2008 Mar; 146A(5):601-9. PubMed ID: 18241066
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.
    Ismail A; Ahid F; Thong MK; Zakaria Z
    J Med Case Rep; 2023 Jun; 17(1):250. PubMed ID: 37296475
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.
    Li F; Lisi EC; Wohler ES; Hamosh A; Batista DA
    Eur J Med Genet; 2009; 52(5):349-52. PubMed ID: 19460468
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
    Quintero-Rivera F; Sharifi-Hannauer P; Martinez-Agosto JA
    Am J Med Genet A; 2010 Oct; 152A(10):2459-67. PubMed ID: 20830797
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
    Bonnet C; Andrieux J; Béri-Dexheimer M; Leheup B; Boute O; Manouvrier S; Delobel B; Copin H; Receveur A; Mathieu M; Thiriez G; Le Caignec C; David A; de Blois MC; Malan V; Philippe A; Cormier-Daire V; Colleaux L; Flori E; Dollfus H; Pelletier V; Thauvin-Robinet C; Masurel-Paulet A; Faivre L; Tardieu M; Bahi-Buisson N; Callier P; Mugneret F; Edery P; Jonveaux P; Sanlaville D
    J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.
    López-Expósito I; Ballesta-Martinez MJ; Bafalliu JA; Vera-Carbonell A; Domingo-Jiménez R; López-González V; Fernández A; Guillén-Navarro E
    Genomics; 2014 Apr; 103(4):288-91. PubMed ID: 24607569
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome].
    Wu D; Wang H; Zhang H; Hou Q; Qin L; Wang T; Xiao H; Liao S; Wang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):823-6. PubMed ID: 26663057
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
    Shaffer LG; Theisen A; Bejjani BA; Ballif BC; Aylsworth AS; Lim C; McDonald M; Ellison JW; Kostiner D; Saitta S; Shaikh T
    Genet Med; 2007 Sep; 9(9):607-16. PubMed ID: 17873649
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.
    Rio M; Royer G; Gobin S; de Blois MC; Ozilou C; Bernheim A; Nizon M; Munnich A; Bonnefont JP; Romana S; Vekemans M; Turleau C; Malan V
    Clin Genet; 2013 Jul; 84(1):31-6. PubMed ID: 23061379
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
    Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E
    Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia.
    Carroll LS; Williams HJ; Walters J; Kirov G; O'Donovan MC; Owen MJ
    Am J Med Genet B Neuropsychiatr Genet; 2011 Dec; 156B(7):844-9. PubMed ID: 21850710
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.
    Essaoui M; Nizon M; Beaujard MP; Carrier A; Tantau J; de Blois MC; Fontaine S; Michot C; Amiel J; Bernard JP; Attié-Bitach T; Vekemans M; Turleau C; Ville Y; Malan V
    Eur J Med Genet; 2013 Sep; 56(9):502-5. PubMed ID: 23832107
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
    Kato Z; Morimoto W; Kimura T; Matsushima A; Kondo N
    Birth Defects Res A Clin Mol Teratol; 2010 Feb; 88(2):132-5. PubMed ID: 19813260
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.
    L Ng IS; Chin WH; P Lim EC; Tan EC
    Twin Res Hum Genet; 2011 Aug; 14(4):333-9. PubMed ID: 21787116
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.