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Journal Abstract Search

328 related items for PubMed ID: 29130599

  • 1. Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
    Osio D, Rankin J, Koillinen H, Reynolds A, Van Esch H.
    Am J Med Genet A; 2018 Jan; 176(1):209-213. PubMed ID: 29130599
    [Abstract] [Full Text] [Related]

  • 2. Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
    Dukes-Rimsky L, Guzauskas GF, Holden KR, Griggs R, Ladd S, Montoya Mdel C, DuPont BR, Srivastava AK.
    Am J Med Genet A; 2011 Sep; 155A(9):2146-53. PubMed ID: 21834054
    [Abstract] [Full Text] [Related]

  • 3. Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
    Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA.
    Hum Mutat; 2013 Oct; 34(10):1415-23. PubMed ID: 23878096
    [Abstract] [Full Text] [Related]

  • 4. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
    Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.
    Am J Med Genet A; 2013 Jan; 161A(1):198-202. PubMed ID: 23239541
    [Abstract] [Full Text] [Related]

  • 5. Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.
    Kuroda Y, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K.
    Am J Med Genet A; 2015 Feb; 167A(2):389-93. PubMed ID: 25487640
    [Abstract] [Full Text] [Related]

  • 6. Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.
    Prasun P, Hankerd M, Kristofice M, Scussel L, Sivaswamy L, Ebrahim S.
    Am J Med Genet A; 2014 Jul; 164A(7):1815-20. PubMed ID: 24700535
    [Abstract] [Full Text] [Related]

  • 7. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
    Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.
    Eur J Med Genet; 2012 Jul; 55(8-9):490-7. PubMed ID: 22561202
    [Abstract] [Full Text] [Related]

  • 8. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
    Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D.
    Am J Med Genet A; 2011 Aug; 155A(8):1857-64. PubMed ID: 21739578
    [Abstract] [Full Text] [Related]

  • 9. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
    Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Iai M, Kurosawa K.
    Am J Med Genet A; 2014 Aug; 164A(8):2104-8. PubMed ID: 24801133
    [Abstract] [Full Text] [Related]

  • 10. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
    Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A.
    Am J Med Genet A; 2014 Feb; 164A(2):441-8. PubMed ID: 24357076
    [Abstract] [Full Text] [Related]

  • 11. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
    Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L.
    J Med Genet; 2014 Jan; 51(1):21-7. PubMed ID: 24133203
    [Abstract] [Full Text] [Related]

  • 12. Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
    Tassano E, Giacomini T, Severino M, Gamucci A, Fiorio P, Gimelli G, Ronchetto P.
    Cytogenet Genome Res; 2017 Jan; 152(1):22-28. PubMed ID: 28605748
    [Abstract] [Full Text] [Related]

  • 13. 19q13.32 microdeletion syndrome: three new cases.
    Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM.
    Eur J Med Genet; 2014 Jan; 57(11-12):654-8. PubMed ID: 25230004
    [Abstract] [Full Text] [Related]

  • 14. Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
    Kellogg G, Sum J, Wallerstein R.
    Am J Med Genet A; 2013 Jun; 161A(6):1405-8. PubMed ID: 23613140
    [Abstract] [Full Text] [Related]

  • 15. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
    Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E.
    Orphanet J Rare Dis; 2013 Jan 07; 8():3. PubMed ID: 23294540
    [Abstract] [Full Text] [Related]

  • 16. Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.
    Zeesman S, Kjaergaard S, Hove HD, Kirchhoff M, Stevens JM, Nowaczyk MJ.
    Am J Med Genet A; 2012 Aug 07; 158A(8):1832-6. PubMed ID: 22753084
    [Abstract] [Full Text] [Related]

  • 17. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
    Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P.
    Am J Med Genet B Neuropsychiatr Genet; 2010 Jul 07; 153B(5):1042-51. PubMed ID: 20333642
    [Abstract] [Full Text] [Related]

  • 18. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.
    Rocca MS, Faletra F, Devescovi R, Gasparini P, Pecile V.
    Eur J Med Genet; 2013 Jan 07; 56(1):62-5. PubMed ID: 23142270
    [Abstract] [Full Text] [Related]

  • 19. Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
    Mackenroth L, Hackmann K, Klink B, Weber JS, Mayer B, Schröck E, Tzschach A.
    Am J Med Genet A; 2016 Sep 07; 170(9):2394-9. PubMed ID: 27255444
    [Abstract] [Full Text] [Related]

  • 20. 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 07; 158A(1):229-35. PubMed ID: 22140031
    [Abstract] [Full Text] [Related]

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