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Journal Abstract Search

307 related items for PubMed ID: 17022067

  • 21. Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.
    Qumsiyeh MB, Stevens CA.
    Am J Med Genet; 1993 Sep 01; 47(3):387-91. PubMed ID: 8135287
    [Abstract] [Full Text] [Related]

  • 22. Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.
    Estabrooks LL, Rao KW, Driscoll DA, Crandall BF, Dean JC, Ikonen E, Korf B, Aylsworth AS.
    Am J Med Genet; 1995 Jul 17; 57(4):581-6. PubMed ID: 7573133
    [Abstract] [Full Text] [Related]

  • 23. Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.
    Hannes F, Drozniewska M, Vermeesch JR, Haus O.
    Eur J Med Genet; 2010 Jul 17; 53(3):136-40. PubMed ID: 20197130
    [Abstract] [Full Text] [Related]

  • 24. A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.
    Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J.
    J Med Genet; 1992 Jul 17; 29(7):451-4. PubMed ID: 1640422
    [Abstract] [Full Text] [Related]

  • 25. 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 17; 14(12):1274-9. PubMed ID: 16896345
    [Abstract] [Full Text] [Related]

  • 26. From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?
    Zollino M, Bova R, Neri G.
    Am J Med Genet; 1996 Dec 02; 66(1):113-5. PubMed ID: 8957527
    [Abstract] [Full Text] [Related]

  • 27. Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.
    Dietze I, Fritz B, Huhle D, Simoens W, Piecha E, Rehder H.
    Fetal Diagn Ther; 2004 Dec 02; 19(3):251-60. PubMed ID: 15067236
    [Abstract] [Full Text] [Related]

  • 28. Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome.
    Dai Y, Yang J, Chen Y, Bao L, Cheng Q.
    Pediatr Int; 2013 Jun 02; 55(3):368-70. PubMed ID: 23782367
    [Abstract] [Full Text] [Related]

  • 29. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
    Kato Z, Morimoto W, Kimura T, Matsushima A, Kondo N.
    Birth Defects Res A Clin Mol Teratol; 2010 Feb 02; 88(2):132-5. PubMed ID: 19813260
    [Abstract] [Full Text] [Related]

  • 30. Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).
    Chen CP, Lee MJ, Chern SR, Wu PS, Su JW, Chen YT, Lee MS, Wang W.
    Gene; 2013 Oct 25; 529(2):351-6. PubMed ID: 23948085
    [Abstract] [Full Text] [Related]

  • 31. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
    Syrrou M, Borghgraef M, Fryns JP.
    Am J Med Genet; 2001 Dec 01; 104(3):199-203. PubMed ID: 11754044
    [Abstract] [Full Text] [Related]

  • 32. Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia.
    Kozma C, Chong SS, Meck JM.
    Am J Med Genet; 1999 Oct 08; 86(4):316-20. PubMed ID: 10494085
    [Abstract] [Full Text] [Related]

  • 33. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
    Zollino M, Orteschi D, Ruiter M, Pfundt R, Steindl K, Cafiero C, Ricciardi S, Contaldo I, Chieffo D, Ranalli D, Acquafondata C, Murdolo M, Marangi G, Asaro A, Battaglia D.
    Epilepsia; 2014 Jun 08; 55(6):849-57. PubMed ID: 24738919
    [Abstract] [Full Text] [Related]

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  • 36. Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome.
    Coppola A, Chinthapalli K, Hammond P, Sander JW, Sisodiya SM.
    Gene; 2013 Jan 10; 512(2):532-5. PubMed ID: 23064045
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  • 38. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
    Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ, van der Wijst SE, Hol FA, de Vroede MA, Beemer FA, Hochstenbach PF, Poot M.
    Eur J Hum Genet; 2007 Nov 10; 15(11):1132-8. PubMed ID: 17637805
    [Abstract] [Full Text] [Related]

  • 39. The 4P-syndrome. Case description and literature review.
    Moretti P, Ferrari M, Di Battista S, Di Battista C.
    Minerva Pediatr; 2001 Feb 10; 53(1):23-8. PubMed ID: 11309539
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