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Journal Abstract Search

317 related items for PubMed ID: 27506666

  • 1. A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
    Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG.
    BMC Neurol; 2016 Aug 09; 16():132. PubMed ID: 27506666
    [Abstract] [Full Text] [Related]

  • 2. An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.
    Yamamoto T, Wilsdon A, Joss S, Isidor B, Erlandsson A, Suri M, Sangu N, Shimada S, Shimojima K, Le Caignec C, Samuelsson L, Stefanova M.
    J Hum Genet; 2014 Jun 09; 59(6):300-6. PubMed ID: 24646727
    [Abstract] [Full Text] [Related]

  • 3. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
    Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR.
    Am J Hum Genet; 2022 Dec 01; 109(12):2270-2282. PubMed ID: 36368327
    [Abstract] [Full Text] [Related]

  • 4. A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.
    Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF.
    Mol Genet Genomic Med; 2020 Mar 01; 8(3):e1078. PubMed ID: 31951325
    [Abstract] [Full Text] [Related]

  • 5. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.
    Mol Autism; 2019 Mar 01; 10():35. PubMed ID: 31649809
    [Abstract] [Full Text] [Related]

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  • 7. An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
    Labonne JD, Lee KH, Iwase S, Kong IK, Diamond MP, Layman LC, Kim CH, Kim HG.
    Hum Genet; 2016 Jul 01; 135(7):757-71. PubMed ID: 27106595
    [Abstract] [Full Text] [Related]

  • 8. Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.
    Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M.
    Birth Defects Res A Clin Mol Teratol; 2012 Jun 01; 94(6):494-8. PubMed ID: 22511562
    [Abstract] [Full Text] [Related]

  • 9. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
    Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR.
    Hum Mutat; 2020 Jan 01; 41(1):150-168. PubMed ID: 31448840
    [Abstract] [Full Text] [Related]

  • 10. An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.
    Shirai K, Higashi Y, Shimojima K, Yamamoto T.
    Am J Med Genet A; 2017 Apr 01; 173(4):1124-1127. PubMed ID: 28328133
    [Abstract] [Full Text] [Related]

  • 11. De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.
    Chen CP, Su YN, Lin HH, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen YT, Wang W.
    Taiwan J Obstet Gynecol; 2011 Sep 01; 50(3):339-44. PubMed ID: 22030050
    [Abstract] [Full Text] [Related]

  • 12. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
    Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, Henderson A, Lalani SR, Scott DA.
    PLoS One; 2017 Sep 01; 12(4):e0175962. PubMed ID: 28414775
    [Abstract] [Full Text] [Related]

  • 13. Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
    Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A.
    Am J Med Genet A; 2021 Apr 01; 185(4):1216-1221. PubMed ID: 33427397
    [Abstract] [Full Text] [Related]

  • 14. [Borderline phenotype of Pelizaeus-Merzbacher disease].
    Moreno-Medinilla EE, Mora-Ramirez MD, Martinez-Anton JL.
    Rev Neurol; 2017 Dec 16; 65(12):575-576. PubMed ID: 29235623
    [Abstract] [Full Text] [Related]

  • 15. A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.
    Shoukier M, Wickert J, Schröder J, Bartels I, Auber B, Zoll B, Salinas-Riester G, Weise D, Brockmann K, Zirn B, Burfeind P.
    Am J Med Genet A; 2012 Jan 16; 158A(1):229-35. PubMed ID: 22140031
    [Abstract] [Full Text] [Related]

  • 16. A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability.
    Maldžienė Ž, Vaitėnienė EM, Aleksiūnienė B, Utkus A, Preikšaitienė E.
    BMC Med Genomics; 2020 Apr 16; 13(1):63. PubMed ID: 32299451
    [Abstract] [Full Text] [Related]

  • 17. A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.
    Zheng Z, Yao RE, Geng J, Jin X, Shen Y, Ying D, Fu Q, Yu Y.
    Gene; 2013 Mar 10; 516(2):301-6. PubMed ID: 23296059
    [Abstract] [Full Text] [Related]

  • 18. Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
    Gazou A, Riess A, Grasshoff U, Schäferhoff K, Bonin M, Jauch A, Riess O, Tzschach A.
    Am J Med Genet A; 2013 Apr 10; 161A(4):860-4. PubMed ID: 23520119
    [Abstract] [Full Text] [Related]

  • 19. A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure.
    Cao Y, Aypar U.
    Eur J Med Genet; 2016 May 10; 59(5):274-7. PubMed ID: 26995686
    [Abstract] [Full Text] [Related]

  • 20. Neurological manifestations of 2q31 microdeletion syndrome.
    Okamoto N, Kimura S, Shimojima K, Yamamoto T.
    Congenit Anom (Kyoto); 2017 Nov 10; 57(6):197-200. PubMed ID: 28145600
    [Abstract] [Full Text] [Related]

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