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Journal Abstract Search

357 related items for PubMed ID: 18243084

  • 1. Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.
    Gawlik-Kuklinska K, Wierzba J, Wozniak A, Iliszko M, Debiec-Rychter M, Dubaniewicz-Wybieralska M, Limon J.
    Eur J Med Genet; 2008; 51(2):165-71. PubMed ID: 18243084
    [Abstract] [Full Text] [Related]

  • 2. Mild phenotype in interstitial 4p deletion: another patient and review of the literature.
    Van de Graaf G, Sijstermans JM, Engelen JJ, Schrander-Stumpel CT.
    Genet Couns; 1997; 8(1):13-8. PubMed ID: 9101273
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  • 3. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
    Shimojima K, Páez MT, Kurosawa K, Yamamoto T.
    Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
    [Abstract] [Full Text] [Related]

  • 4. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
    Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R.
    Eur J Hum Genet; 2006 Dec; 14(12):1274-9. PubMed ID: 16896345
    [Abstract] [Full Text] [Related]

  • 5. [Cytogenetic and molecular characterization of partial trisomy 4q and partial monosomy 10q in a patient].
    Zhang YL, Dai Y, Tu ZG, Li QY, Wang LQ, Zhang L, Zeng J, Ouyang ZB.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Apr; 27(2):153-7. PubMed ID: 20376795
    [Abstract] [Full Text] [Related]

  • 6. Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter.
    Chao A, Lee YS, Chao AS, Wang TH, Chang SD.
    Birth Defects Res A Clin Mol Teratol; 2006 Oct; 76(10):739-43. PubMed ID: 17022067
    [Abstract] [Full Text] [Related]

  • 7. Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.
    Descartes M, Mikhail FM, Franklin JC, McGrath TM, Bebin M.
    Pediatr Neurol; 2011 Oct; 45(4):274-8. PubMed ID: 21907895
    [Abstract] [Full Text] [Related]

  • 8. Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.
    Piovani G, Borsani G, Bertini V, Kalscheuer VM, Viertel P, Bellotti D, Valseriati D, Barlati S.
    Eur J Med Genet; 2006 Oct; 49(3):215-23. PubMed ID: 16762823
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  • 10. Interstitial deletion of the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? A report of two new cases.
    Poissonnier M, Turleau C, Olivier-Martin M, Milleret-Proyart MJ, Prieur M, Dubos M, Cabanis MO, Mugneret F, Blanc P, Noel L.
    Ann Genet; 1992 Oct; 35(3):146-51. PubMed ID: 1466563
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  • 12. Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.
    Estabrooks LL, Rao KW, Korf B.
    Am J Med Genet; 1993 Jan 01; 45(1):97-100. PubMed ID: 8418669
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  • 14. Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
    Chitayat D, Ruvalcaba RH, Babul R, Teshima IE, Posnick JC, Vekemans MJ, Scarpelli H, Thuline H.
    Am J Med Genet; 1995 Jan 16; 55(2):147-54. PubMed ID: 7717413
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  • 15. Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities.
    Morales C, Mademont-Soler I, Armengol L, Milà M, Badenas C, Andrés S, Soler A, Sánchez A.
    Cytogenet Genome Res; 2009 Jan 16; 125(4):334-40. PubMed ID: 19864897
    [Abstract] [Full Text] [Related]

  • 16. Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.
    Møller RS, Hansen CP, Jackson GD, Ullmann R, Ropers HH, Tommerup N, Tümer Z.
    Clin Genet; 2007 Dec 16; 72(6):593-8. PubMed ID: 17941887
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  • 17. Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review.
    van Bon BW, Koolen DA, Feenstra I, Neefs I, Pfundt R, Smeets DF, de Vries BB.
    Clin Dysmorphol; 2007 Oct 16; 16(4):279-82. PubMed ID: 17786124
    [Abstract] [Full Text] [Related]

  • 18. Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype.
    Quack B, Van Roy N, Verschraegen-Spae MR, Klein F.
    Ann Genet; 1992 Oct 16; 35(4):241-4. PubMed ID: 1296524
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  • 20. Proximal interstitial 6q deletion: a recognizable syndrome.
    Kumar R, Riordan D, Dawson AJ, Chudley AE.
    Am J Med Genet; 1997 Aug 22; 71(3):353-6. PubMed ID: 9268108
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