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Journal Abstract Search

115 related items for PubMed ID: 22198201

  • 1. 1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
    Brun A, Cailley D, Toutain J, Bouron J, Arveiler B, Lacombe D, Goizet C, Rooryck C.
    Eur J Med Genet; 2012 Feb; 55(2):135-9. PubMed ID: 22198201
    [Abstract] [Full Text] [Related]

  • 2. An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.
    L Ng IS, Chin WH, P Lim EC, Tan EC.
    Twin Res Hum Genet; 2011 Aug; 14(4):333-9. PubMed ID: 21787116
    [Abstract] [Full Text] [Related]

  • 3. A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.
    Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E.
    Eur J Med Genet; 2010 Aug; 53(4):221-4. PubMed ID: 20382277
    [Abstract] [Full Text] [Related]

  • 4. 2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.
    Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo JB, Chateil JF, Lacombe D, Arveiler B.
    Eur J Med Genet; 2009 Aug; 52(6):446-9. PubMed ID: 19733267
    [Abstract] [Full Text] [Related]

  • 5. Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
    Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.
    Eur J Med Genet; 2015 Sep; 58(9):455-65. PubMed ID: 26206081
    [Abstract] [Full Text] [Related]

  • 6. Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.
    Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M.
    Am J Med Genet A; 2009 Dec; 149A(12):2813-9. PubMed ID: 19921647
    [Abstract] [Full Text] [Related]

  • 7. 7q21.11 Microdeletion in a Neonate With Goldenhar Syndrome: Case Report and a Literature Review.
    Puvabanditsin S, February M, Francois L, Garrow E, Bruno C, Mehta R.
    Cleft Palate Craniofac J; 2016 Mar; 53(2):249-52. PubMed ID: 26068384
    [Abstract] [Full Text] [Related]

  • 8. Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.
    Rooryck C, Souakri N, Cailley D, Bouron J, Goizet C, Delrue MA, Marlin S, Lacombe FD, Arveiler B.
    Am J Med Genet A; 2010 Aug; 152A(8):1984-9. PubMed ID: 20635336
    [Abstract] [Full Text] [Related]

  • 9. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
    Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R.
    Eur J Pediatr; 2008 Aug; 167(8):903-8. PubMed ID: 17932688
    [Abstract] [Full Text] [Related]

  • 10. Delineation of 15q13.3 microdeletions.
    Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L.
    Clin Genet; 2010 Aug; 78(2):149-61. PubMed ID: 20236110
    [Abstract] [Full Text] [Related]

  • 11. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
    Ballesta-Martínez MJ, López-González V, Dulcet LA, Rodríguez-Santiago B, Garcia-Miñaúr S, Guillen-Navarro E.
    Am J Med Genet A; 2013 Aug; 161A(8):2030-5. PubMed ID: 23794319
    [Abstract] [Full Text] [Related]

  • 12. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.
    Kiholm Lund AB, Hove HD, Kirchhoff M.
    Eur J Med Genet; 2008 Aug; 51(6):520-6. PubMed ID: 18755302
    [Abstract] [Full Text] [Related]

  • 13. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.
    Torti EE, Braddock SR, Bernreuter K, Batanian JR.
    Am J Med Genet A; 2013 Aug; 161A(8):1992-8. PubMed ID: 23894059
    [Abstract] [Full Text] [Related]

  • 14. Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.
    Balasubramanian M, Smith K, Mordekar SR, Parker MJ.
    Eur J Med Genet; 2011 Aug; 54(3):314-8. PubMed ID: 21315189
    [Abstract] [Full Text] [Related]

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  • 17. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
    El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P.
    Hum Genet; 2009 Oct; 126(4):589-602. PubMed ID: 19557438
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  • 19. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
    Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.
    Clin Genet; 2005 Apr; 67(4):341-51. PubMed ID: 15733271
    [Abstract] [Full Text] [Related]

  • 20. 1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.
    Cobb W, Anderson A, Turner C, Hoffman RD, Schonberg S, Levin SW.
    Eur J Med Genet; 2010 Apr; 53(6):415-8. PubMed ID: 20832509
    [Abstract] [Full Text] [Related]

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