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Journal Abstract Search

177 related items for PubMed ID: 33160097

  • 21. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
    Wayhelova M, Smetana J, Vallova V, Hladilkova E, Filkova H, Hanakova M, Vilemova M, Nikolova P, Gromesova B, Gaillyova R, Kuglik P.
    BMC Med Genomics; 2019 Jul 23; 12(1):111. PubMed ID: 31337399
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  • 22. A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.
    Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M.
    Eur J Med Genet; 2007 Jul 23; 50(4):256-63. PubMed ID: 17576104
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  • 23. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
    Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V.
    Am J Med Genet A; 2018 Jul 23; 176(7):1549-1558. PubMed ID: 30160831
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  • 24. CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.
    Uehara T, Takenouchi T, Yamaguchi Y, Daimon Y, Suzuki H, Sakaguchi Y, Kosaki K.
    Am J Med Genet A; 2019 Apr 23; 179(4):659-662. PubMed ID: 30768759
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  • 25. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
    Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D, Edery P.
    Am J Med Genet A; 2014 Jun 23; 164A(6):1571-5. PubMed ID: 24668549
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  • 27. TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.
    Uctepe E, Aktas D, Alikasifoglu M, Gunduz E, Sonmez FM.
    Genet Couns; 2016 Jun 23; 27(3):357-365. PubMed ID: 30204964
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  • 29. 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.
    Bernardo P, Madia F, Santulli L, Del Gaudio L, Caccavale C, Zara F, Traverso M, Cirillo M, Striano S, Coppola A.
    Brain Dev; 2016 Aug 23; 38(7):663-8. PubMed ID: 26897099
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  • 30. Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
    Smyk M, Poluha A, Jaszczuk I, Bartnik M, Bernaciak J, Nowakowska B.
    Am J Med Genet A; 2016 May 23; 170A(5):1325-9. PubMed ID: 26834018
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  • 31. New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.
    De Falco A, Iolascon A, Ascione F, Piscopo C.
    Genes (Basel); 2023 May 21; 14(5):. PubMed ID: 37239476
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  • 35. Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.
    Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N.
    J Med Genet; 2014 Sep 21; 51(9):605-13. PubMed ID: 25062845
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  • 36. 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment.
    Writzl K, Knegt AC.
    Am J Med Genet A; 2013 Jul 21; 161A(7):1682-5. PubMed ID: 23687080
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  • 38. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
    Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.
    J Med Genet; 2009 Apr 21; 46(4):242-8. PubMed ID: 18805830
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