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Journal Abstract Search

228 related items for PubMed ID: 25963108

  • 1. Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact.
    Hervé B, Roume J, Cognard S, Fauvert D, Molina-Gomes D, Vialard F.
    Eur J Med Genet; 2015; 58(6-7):346-50. PubMed ID: 25963108
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  • 2. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
    Campbell CL, Collins RT, Zarate YA.
    Birth Defects Res A Clin Mol Teratol; 2014 Dec; 100(12):985-90. PubMed ID: 25380126
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  • 3. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
    Atik T, Karaca E, Ozkinay E, Cogulu O.
    Genet Couns; 2015 Dec; 26(4):431-5. PubMed ID: 26852514
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  • 4. [Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome].
    Wu D, Li T, Wang H, Shi W, Hou Q, Zhang H, Wang T, Yang Y, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec 10; 34(6):849-852. PubMed ID: 29188614
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  • 6. Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.
    Marchese G, Rizzo F, Guacci A, Weisz A, Coppola G.
    Neurol Sci; 2016 May 10; 37(5):829-31. PubMed ID: 26792009
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  • 7. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
    Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW.
    J Biol Chem; 2017 Mar 03; 292(9):3866-3876. PubMed ID: 28057753
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  • 8. Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome.
    Huang LY, Yang Y, He P, Li DZ.
    J Obstet Gynaecol; 2017 Apr 03; 37(3):327-329. PubMed ID: 27966372
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  • 9. New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
    Ciaccio C, Scuvera G, Tucci A, Gentilin B, Baccarin M, Marchisio P, Avignone S, Milani D.
    Cytogenet Genome Res; 2018 Apr 03; 156(3):127-133. PubMed ID: 30448833
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  • 12. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
    la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z.
    Am J Med Genet A; 2013 Jun 03; 161A(6):1447-52. PubMed ID: 23633410
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  • 15. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.
    Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T.
    Clin Genet; 2011 Jul 03; 80(1):31-8. PubMed ID: 21204793
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  • 17. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
    Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM.
    PLoS Genet; 2017 Oct 03; 13(10):e1006864. PubMed ID: 29069077
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  • 20. A patient with 9q subtelomeric deletion syndrome with additional findings.
    Tug E, Cavdarli B, Karaoguz MY, Percin FE.
    Genet Couns; 2012 Oct 03; 23(4):465-71. PubMed ID: 23431745
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