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Journal Abstract Search

423 related items for PubMed ID: 22842074

  • 1. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E, Männik K, Dirse V, Utkus A, Ciuladaite Z, Kasnauskiene J, Kurg A, Kučinskas V.
    Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074
    [Abstract] [Full Text] [Related]

  • 2. A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.
    Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E.
    Eur J Med Genet; 2012 Dec; 55(12):695-9. PubMed ID: 22986108
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  • 3. 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 Dec; 55(8-9):490-7. PubMed ID: 22561202
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  • 4. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
    Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z.
    Gene; 2013 Mar 01; 516(1):158-61. PubMed ID: 23266801
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  • 5. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
    Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G.
    Eur J Med Genet; 2012 May 01; 55(5):362-6. PubMed ID: 22548977
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  • 6. 17q21.31 microdeletion associated with infantile spasms.
    Wray CD.
    Eur J Med Genet; 2013 Jan 01; 56(1):59-61. PubMed ID: 23123321
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  • 7. A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.
    Jonsson DI, Ludvigsson P, Aradhya S, Sigurdardottir S, Steinarsdottir M, Hauksdottir H, Jonsson JJ.
    Eur J Med Genet; 2012 Jun 01; 55(6-7):437-40. PubMed ID: 22534424
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  • 8. A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.
    Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E.
    Eur J Med Genet; 2012 Jun 01; 55(8-9):466-71. PubMed ID: 22659270
    [Abstract] [Full Text] [Related]

  • 9. 17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
    Egloff M, Encha-Razavi F, Garel C, Bonnière-Darcy M, Millischer AE, Lapierre JM, Fontaine S, de Blois MC, Vekemans M, Turleau C, Ville Y, Malan V.
    Cytogenet Genome Res; 2014 Jun 01; 144(3):178-82. PubMed ID: 25402493
    [Abstract] [Full Text] [Related]

  • 10. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
    Papoulidis I, Paspaliaris V, Papageorgiou E, Siomou E, Dagklis T, Sotiriou S, Thomaidis L, Manolakos E.
    Cytogenet Genome Res; 2015 Jun 01; 145(1):19-24. PubMed ID: 25925190
    [Abstract] [Full Text] [Related]

  • 11. A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
    Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V.
    Eur J Med Genet; 2012 Apr 01; 55(4):274-7. PubMed ID: 22450339
    [Abstract] [Full Text] [Related]

  • 12. A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.
    Jelsig AM, Brasch-Andersen C, Kibæk M, Fagerberg CR.
    Eur J Med Genet; 2012 Oct 01; 55(10):564-7. PubMed ID: 22750323
    [Abstract] [Full Text] [Related]

  • 13. A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
    Rooryck C, Burgelin I, Stef M, Taine L, Thambo JB, Lacombe D, Arveiler B.
    Eur J Med Genet; 2008 Oct 01; 51(1):74-80. PubMed ID: 18024240
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  • 16. 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 Oct 01; 57(11-12):654-8. PubMed ID: 25230004
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