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Journal Abstract Search

449 related items for PubMed ID: 19480332

  • 1. A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation.
    Türköver BB, Sayar C, Toksoy G, Elçioğlu N.
    Turk J Pediatr; 2009; 51(2):174-9. PubMed ID: 19480332
    [Abstract] [Full Text] [Related]

  • 2. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.
    Cai T, Yu P, Tagle DA, Xia J.
    Am J Med Genet; 1999 Oct 08; 86(4):305-11. PubMed ID: 10494083
    [Abstract] [Full Text] [Related]

  • 3. Partial duplication for the short arm of chromosome 2 : the 2p23 to pter syndrome.
    Rosenfeld W, Verma RS, Jhaveri R, Dosik H, Evans H.
    Ann Genet; 1982 Oct 08; 25(1):28-31. PubMed ID: 6979296
    [Abstract] [Full Text] [Related]

  • 4. Partial deletion of distal 17q.
    Bridge J, Sanger W, Mosher G, Buehler B, Nelson R, Welsh M, Newland J, Kafka M.
    Am J Med Genet; 1985 Jun 08; 21(2):225-9. PubMed ID: 4014309
    [Abstract] [Full Text] [Related]

  • 5. Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13).
    Krüger G, Götz J, Kvist U, Dunker H, Erfurth F, Pelz L, Zech L.
    Am J Med Genet; 1989 Mar 08; 32(3):411-6. PubMed ID: 2729360
    [Abstract] [Full Text] [Related]

  • 6. A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION.
    Eid MO, Eid MM, Kamel AK, El-Ruby M, Abdel-Salam GM.
    Genet Couns; 2015 Mar 08; 26(2):153-61. PubMed ID: 26349184
    [Abstract] [Full Text] [Related]

  • 7. Partial trisomy of the distal part of 10q: a report of two Egyptian cases.
    Aglan MS, Kamel AK, Helmy NA.
    Genet Couns; 2008 Mar 08; 19(2):199-209. PubMed ID: 18618995
    [Abstract] [Full Text] [Related]

  • 8. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
    Mach M, Windpassinger C, Wagner K, Kroisel PM, Petek E.
    Genet Couns; 2007 Mar 08; 18(1):9-16. PubMed ID: 17515297
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.
    Park JP, McDermet MK, Moeschler JB, Wurster-Hill DH.
    Ann Genet; 1993 Sep 01; 36(4):217-20. PubMed ID: 8166428
    [Abstract] [Full Text] [Related]

  • 11. Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.
    Tüysüz B, Demirel A, Uysal S, Beyer V, Bartsch O.
    Genet Couns; 2008 Sep 01; 19(1):29-35. PubMed ID: 18564498
    [Abstract] [Full Text] [Related]

  • 12. A new case of a severe clinical phenotype of the cat-eye syndrome.
    Denavit TM, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont ML, Burglen L, Taillemite JL, Portnoi MF.
    Genet Couns; 2004 Sep 01; 15(4):443-8. PubMed ID: 15658620
    [Abstract] [Full Text] [Related]

  • 13. Prenatal diagnosis of a fetus with partial trisomy 7p.
    Ozgun MT, Batukan C, Basbug M, Akgun H, Caglayan O, Dundar M.
    Fetal Diagn Ther; 2007 Sep 01; 22(3):229-32. PubMed ID: 17228165
    [Abstract] [Full Text] [Related]

  • 14. Prenatal detection of deletion 6q13q15 in a complex karyotype.
    Yu M, Obringer AC, Fowler MH, Hummel M, Wenger SL.
    Prenat Diagn; 2005 Dec 01; 25(12):1084-7. PubMed ID: 16231325
    [Abstract] [Full Text] [Related]

  • 15. A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.
    Lee JH, Cho HS, Lee ES, Jung BC.
    Korean J Lab Med; 2010 Jun 01; 30(3):312-7. PubMed ID: 20603594
    [Abstract] [Full Text] [Related]

  • 16. Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly.
    Chen CP, Chen M, Su YN, Tsai FJ, Chern SR, Hsu CY, Wu PC, Town DD, Lee DJ, Ma GC, Wang W.
    Taiwan J Obstet Gynecol; 2010 Sep 01; 49(3):320-6. PubMed ID: 21056318
    [Abstract] [Full Text] [Related]

  • 17. Emerging phenotype of duplication (7p): a report of three cases and review of the literature.
    Milunsky JM, Wyandt HE, Milunsky A.
    Am J Med Genet; 1989 Jul 01; 33(3):364-8. PubMed ID: 2679090
    [Abstract] [Full Text] [Related]

  • 18. Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.
    Senses DA, Silan F, Uzun H, Alagöz D, Zafer C, Kocabay K, Karaüzüm SB, Cetin Z.
    Genet Couns; 2007 Jul 01; 18(2):163-70. PubMed ID: 17710868
    [Abstract] [Full Text] [Related]

  • 19. Partial 3q trisomy due to an unbalanced 3/10 translocation.
    Blumberg B, Moore R, Mohandas T.
    Am J Med Genet; 1980 Jul 01; 7(3):335-9. PubMed ID: 7468658
    [Abstract] [Full Text] [Related]

  • 20. [Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].
    Liang DS, Wu LQ, Cai F, Xia K, Long ZG, Pan Q, Dai HP, Xia JH.
    Yi Chuan Xue Bao; 2005 Feb 01; 32(2):124-9. PubMed ID: 15759858
    [Abstract] [Full Text] [Related]

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