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Journal Abstract Search

163 related items for PubMed ID: 15759263

  • 1. Karyotype/phenotype correlations in duplication 4q: evidence for a critical region within 4q27-28 for preaxial defects.
    Battaglia A, Chen Z, Brothman AR, Morelli S, Palumbos JC, Carey JC, Hudgins L, Disteche C.
    Am J Med Genet A; 2005 Apr 30; 134(3):334-7. PubMed ID: 15759263
    [No Abstract] [Full Text] [Related]

  • 2. Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype.
    Rinaldi R, De Bernardo C, Assumma M, Grammatico B, Buffone E, Poscente M, Grammatico P.
    Am J Med Genet A; 2003 Apr 15; 118A(2):122-6. PubMed ID: 12655492
    [Abstract] [Full Text] [Related]

  • 3. New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.
    Merlob P, Kohn G, Litwin A, Nissenkorn I, Katznelson MB, Reisner SH.
    Am J Med Genet; 1989 Jan 15; 32(1):22-6. PubMed ID: 2705479
    [Abstract] [Full Text] [Related]

  • 4. Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.
    Goodman BK, Capone GT, Hennessey J, Thomas GH.
    Am J Med Genet; 1997 Dec 12; 73(2):119-24. PubMed ID: 9409859
    [Abstract] [Full Text] [Related]

  • 5. Toriello-Carey syndrome phenotype and chromosome anomalies.
    Toriello HV, Hatchwell E.
    Am J Med Genet A; 2008 Jan 01; 146A(1):116. PubMed ID: 18074373
    [No Abstract] [Full Text] [Related]

  • 6. Investigation of 4q-deletion in two unrelated patients using array CGH.
    Kaalund SS, Møller RS, Tészás A, Miranda M, Kosztolanyi G, Ullmann R, Tommerup N, Tümer Z.
    Am J Med Genet A; 2008 Sep 15; 146A(18):2431-4. PubMed ID: 18688872
    [No Abstract] [Full Text] [Related]

  • 7. Translocation/duplication of 9p onto a duplicated 4q.
    Rivera H, Figuera LE, Vasquez AI.
    Genet Couns; 1992 Sep 15; 3(4):201-3. PubMed ID: 1472355
    [Abstract] [Full Text] [Related]

  • 8. A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.
    Sahoo T, Naeem R, Pham K, Chheng S, Noblin ST, Bacino CA, Gambello MJ.
    Am J Med Genet A; 2005 Feb 15; 133A(1):93-8. PubMed ID: 15637724
    [Abstract] [Full Text] [Related]

  • 9. Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay.
    Blackett PR, Li S, Mulvihill JJ.
    Am J Med Genet A; 2005 Aug 30; 137(2):213-6. PubMed ID: 16082703
    [Abstract] [Full Text] [Related]

  • 10. Duplication 4q associated with chronic cholestatic changes in liver biopsy.
    Egritas O, Cavdarli B, Dalgic B, Ergun MA, Percin F, Ziegler M, Pohle B, Liehr T.
    Eur J Med Genet; 2010 Aug 30; 53(6):411-4. PubMed ID: 20826235
    [Abstract] [Full Text] [Related]

  • 11. CGH Array and Karyotype as Complementary Tools in Prenatal Diagnosis: Prenatal Diagnosis of a 4q Derivative Chromosome from Maternal 4q;11q Translocation.
    Gonzalez C, Serrano MG, Barbancho Lopez C, Garcia-Riaño T, Barea Calero V, Moreno Perea R, Rodriguez Mogollón B, Queipo Rojas A, Climent AG, Cava Valenciano F.
    Fetal Pediatr Pathol; 2018 Jun 30; 37(3):184-190. PubMed ID: 29771170
    [Abstract] [Full Text] [Related]

  • 12. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
    South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC.
    Am J Med Genet A; 2008 Oct 15; 146A(20):2691-7. PubMed ID: 18798325
    [Abstract] [Full Text] [Related]

  • 13. De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3).
    Tsai AC, Digiovanni M, Walton C, Cotter PD.
    Am J Med Genet A; 2005 Apr 15; 134A(2):229-30. PubMed ID: 15633165
    [No Abstract] [Full Text] [Related]

  • 14. Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
    Karmous-Benailly H, Giuliano F, Massol C, Bloch C, De Ricaud D, Lambert JC, Perelman S.
    Eur J Med Genet; 2006 Apr 15; 49(5):431-8. PubMed ID: 16497571
    [Abstract] [Full Text] [Related]

  • 15. Duplication of distal 22q.
    Abeliovich D, Maor E, Bashan N, Carmi R.
    Am J Med Genet; 1989 Mar 15; 32(3):346-9. PubMed ID: 2729354
    [Abstract] [Full Text] [Related]

  • 16. Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype.
    Sensi A, Prontera P, Buldrini B, Palma S, Aiello V, Gruppioni R, Calzolari E, Volinia S, Martini A.
    Am J Med Genet A; 2008 Jan 01; 146A(1):110-5. PubMed ID: 18074369
    [Abstract] [Full Text] [Related]

  • 17. Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.
    Matoso E, Melo JB, Ferreira SI, Jardim A, Castelo TM, Weise A, Carreira IM.
    Am J Med Genet A; 2013 Aug 01; 161A(8):1923-8. PubMed ID: 23824631
    [Abstract] [Full Text] [Related]

  • 18. A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review.
    Garcia-Heras J, Martin J.
    Am J Med Genet; 2002 May 01; 109(3):226-30. PubMed ID: 11977183
    [Abstract] [Full Text] [Related]

  • 19. Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication.
    Horbinski C, Carter EM, Heard PL, Sathanoori M, Hu J, Vockley J, Gunn S, Hale DE, Surti U, Cody JD.
    Am J Med Genet A; 2008 Nov 15; 146A(22):2898-904. PubMed ID: 18932219
    [Abstract] [Full Text] [Related]

  • 20. Partial trisomy 3p and partial monosomy 11q associated with atrial septal defect, cleft palate, and developmental delay: a case report.
    Tan EC, Lim E, Cham B, Knight L, Ng I.
    Cytogenet Genome Res; 2011 Nov 15; 134(4):319-24. PubMed ID: 21654159
    [Abstract] [Full Text] [Related]

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