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Journal Abstract Search

373 related items for PubMed ID: 22548977

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  • 4. 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
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  • 6. Clinical and molecular characterization of a combined 17p13.3 microdeletion with partial monosomy 21q21.3 in a 26-year-old man.
    Hannachi H, Mougou-Zerelli S, BenAbdallah I, Mama N, Hamdi I, Labalme A, Elghezal H, Sanlaville D, Saad A.
    Cytogenet Genome Res; 2011 Nov; 135(2):102-10. PubMed ID: 21876345
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  • 7. 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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  • 8. 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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  • 9. Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.
    Fanizza I, Bertuzzo S, Beri S, Scalera E, Massagli A, Sali ME, Giorda R, Bonaglia MC.
    Eur J Med Genet; 2014 Jul 01; 57(7):334-8. PubMed ID: 24780630
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  • 10. 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 01; 55(8-9):490-7. PubMed ID: 22561202
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  • 11. A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation.
    Vecchio D, Salzano E, Vecchio A, Roccella M.
    Minerva Pediatr; 2012 Jun 01; 64(3):365-7. PubMed ID: 22555332
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  • 12. 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
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  • 13. [Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].
    Borg K, Bocian E, Stankiewicz P, Obersztyn E, Kruczek A, Nowakowska B, Ilnicka A, Mazurczak T.
    Med Wieku Rozwoj; 2006 Apr 01; 10(1 Pt 2):227-46. PubMed ID: 17028391
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  • 14. 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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  • 15. 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.
    Grigori P, Panayiotou E, Sismani C, Koumbaris G, Ioannides M, Costalos C, Kosmaidou-Aravidou Z, Kousoulidou L, Patsalis PC.
    Eur J Med Genet; 2011 Jun 01; 54(3):365-8. PubMed ID: 21354346
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  • 16. 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 01; 51(1):21-7. PubMed ID: 24133203
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  • 17. Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.
    Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J.
    J Hum Genet; 2012 Mar 01; 57(3):191-6. PubMed ID: 22258158
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  • 18. Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.
    Ruiz-Botero F, Pachajoa H.
    J Med Case Rep; 2016 Jul 27; 10():204. PubMed ID: 27459995
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  • 19. De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.
    Debost-Legrand A, Capri Y, Gouas L, Pebrel-Richard C, Veronese L, Tchirkov A, Haoud K, Boespflug-Tanguy O, Goumy C, Vago P.
    Pathol Biol (Paris); 2011 Dec 27; 59(6):309-13. PubMed ID: 21145667
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  • 20. What can we learn from old microdeletion syndromes using array-CGH screening?
    Mosca-Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M.
    Clin Genet; 2012 Jul 27; 82(1):41-7. PubMed ID: 21722100
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