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Journal Abstract Search

204 related items for PubMed ID: 15517827

  • 21. De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.
    Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W, Liao YW.
    Genet Couns; 2004; 15(4):437-42. PubMed ID: 15658619
    [Abstract] [Full Text] [Related]

  • 22. A study of ring 20 chromosome karyotype with epilepsy.
    Yamadera H, Kobayashi K, Sugai K, Suda H, Kaneko S.
    Psychiatry Clin Neurosci; 1998 Feb; 52(1):63-8. PubMed ID: 9682935
    [Abstract] [Full Text] [Related]

  • 23. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
    Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S.
    Ann Neurol; 2003 Jul; 54(1):30-7. PubMed ID: 12838518
    [Abstract] [Full Text] [Related]

  • 24. Vertical transmission of the Ohdo blepharophimosis syndrome.
    Mhanni AA, Dawson AJ, Chudley AE.
    Am J Med Genet; 1998 May 01; 77(2):144-8. PubMed ID: 9605288
    [Abstract] [Full Text] [Related]

  • 25. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
    Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.
    Prenat Diagn; 2005 Jun 01; 25(6):451-5. PubMed ID: 15966060
    [Abstract] [Full Text] [Related]

  • 26. Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality.
    Migliori MV, Cherubini V, Bartolotta E, Pettinari A, Pecora R.
    Am J Med Genet; 1994 Jan 01; 49(1):108-10. PubMed ID: 8172236
    [Abstract] [Full Text] [Related]

  • 27. Paracentric inversion of chromosome 14: a case report.
    Uehara S, Tanigawara S, Takeyama Y, Takabayashi T, Okamura K, Yajima A.
    Jpn J Hum Genet; 1994 Sep 01; 39(3):353-6. PubMed ID: 7841446
    [Abstract] [Full Text] [Related]

  • 28. Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.
    Wuyts W, Roland D, Lüdecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L.
    Am J Med Genet; 2002 Dec 15; 113(4):326-32. PubMed ID: 12457403
    [Abstract] [Full Text] [Related]

  • 29. De novo interstitial tandem duplication of chromosome 4(q21-q28).
    Navarro EG, Romero MC, Expósito IL, Velasco CM, Llamas JG, Ramón FJ, Jimenez RD.
    Am J Med Genet; 1996 Mar 29; 62(3):297-9. PubMed ID: 8882791
    [Abstract] [Full Text] [Related]

  • 30. [Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].
    Rethoré MO, Caille B, Huet de Barochez Y, de Blois MC, Ravel A, Lejeune J.
    Ann Genet; 1984 Mar 29; 27(2):91-5. PubMed ID: 6331796
    [Abstract] [Full Text] [Related]

  • 31. Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literature.
    Cogulu O, Ozkinay F, Gunduz C, Cankaya T, Ozkinay C.
    Genet Couns; 2003 Mar 29; 14(4):419-23. PubMed ID: 14738116
    [Abstract] [Full Text] [Related]

  • 32. [Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?].
    Rinaldi MM, Militerni R, Pascotto A, Scarano G, Renda S, Cavaliere ML, Santulli B, Esposito M, Ventruto V.
    Pediatr Med Chir; 1982 Mar 29; 4(5):559-61. PubMed ID: 6927358
    [Abstract] [Full Text] [Related]

  • 33. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H, Vermeesch J, Fryns JP.
    Genet Couns; 2008 Mar 29; 19(4):365-71. PubMed ID: 19239079
    [Abstract] [Full Text] [Related]

  • 34. Mosaic trisomy r(14) associated with epilepsy and mental retardation.
    Tzoufi M, Kanioglou C, Dasoula A, Asproudis I, Tsatsoulis A, Sismani C, Patsalis PC, Georgiou I, Syrrou M.
    J Child Neurol; 2007 Jul 29; 22(7):869-73. PubMed ID: 17715281
    [Abstract] [Full Text] [Related]

  • 35. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations.
    Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Quadrelli R.
    Eur J Med Genet; 2007 Jul 29; 50(3):224-32. PubMed ID: 17329177
    [Abstract] [Full Text] [Related]

  • 36. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4.
    Fryns JP, Van den Berghe H, Schrander-Stumpel C.
    Am J Med Genet; 1994 Nov 01; 53(2):204-5. PubMed ID: 7856651
    [No Abstract] [Full Text] [Related]

  • 37. [The Angelman or "happy puppet" syndrome].
    Kálmánchey R, Halász A.
    Orv Hetil; 1990 Sep 30; 131(39):2151-4. PubMed ID: 2216443
    [Abstract] [Full Text] [Related]

  • 38. Interstitial deletion of a proximal 3p: a clinically recognisable syndrome.
    Lalli C, Galasso C, Lo Castro A, Nardone AM, Di Paolo A, Curatolo P.
    Brain Dev; 2007 Jun 30; 29(5):312-6. PubMed ID: 17125947
    [Abstract] [Full Text] [Related]

  • 39. Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.
    Estop AM, Bansal V, Lin A, Levinson F, Karlin SM, Surti U, Wenger SL, Steele MW.
    Am J Med Genet; 1994 Feb 15; 49(4):410-3. PubMed ID: 8160735
    [Abstract] [Full Text] [Related]

  • 40. Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.
    Verloes A, Lesenfants S, Philippet B, Iyawa A, Laloux F, Koulischer L.
    Genet Couns; 1996 Feb 15; 7(4):277-82. PubMed ID: 8985731
    [Abstract] [Full Text] [Related]

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