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Journal Abstract Search

207 related items for PubMed ID: 1640944

  • 21. Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome).
    Zakowski MF, Wright Y, Ricci A.
    Am J Med Genet; 1992 Feb 01; 42(3):323-5. PubMed ID: 1536171
    [Abstract] [Full Text] [Related]

  • 22. Skeletal anomalies in a patient with the Pallister/Teschler-Nicola/Killian syndrome.
    Kawashima H.
    Am J Med Genet; 1987 Jun 01; 27(2):285-9. PubMed ID: 3605214
    [Abstract] [Full Text] [Related]

  • 23. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.
    Leube B, Majewski F, Gebauer J, Royer-Pokora B.
    Am J Med Genet A; 2003 Dec 15; 123A(3):296-300. PubMed ID: 14608653
    [Abstract] [Full Text] [Related]

  • 24. A case of mosaic tetrasomy 12p (Pallister-Killian Syndrome) diagnosed prenatally: comparison of chromosome analyses of various cells obtained from the patient.
    Takakuwa K, Hataya I, Arakawa M, Tamura M, Sekizuka N, Tanaka K.
    Am J Perinatol; 1997 Nov 15; 14(10):641-3. PubMed ID: 9605253
    [Abstract] [Full Text] [Related]

  • 25. Pallister-Killian syndrome: the first reported case in Hong Kong.
    Lo IF, Cheung LY, Lam FW, Lam ST.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998 Nov 15; 39(5):333-5. PubMed ID: 9823681
    [Abstract] [Full Text] [Related]

  • 26. A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.
    Beall MH, Falk RE, Ying KL.
    Am J Med Genet; 1988 Nov 15; 31(3):553-7. PubMed ID: 3067576
    [Abstract] [Full Text] [Related]

  • 27. Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p.
    Gerdes AM, Hansen LK, Brandrup F, Soegaard K, Christoffersen A, Rasmussen K.
    Pediatr Dermatol; 2006 Nov 15; 23(4):378-81. PubMed ID: 16918638
    [Abstract] [Full Text] [Related]

  • 28. Hypopigmentation of the fundi associated with Pallister-Killian syndrome.
    Birch M, Patterson A, Fryer A.
    J Pediatr Ophthalmol Strabismus; 1995 Nov 15; 32(2):128-31. PubMed ID: 7629670
    [No Abstract] [Full Text] [Related]

  • 29. Costello syndrome: the natural history of a true postnatal growth retardation syndrome.
    Umans S, Decock P, Fryns JP.
    Genet Couns; 1995 Nov 15; 6(2):121-5. PubMed ID: 7546454
    [Abstract] [Full Text] [Related]

  • 30. A case report of Teschler-Nicola/Killian syndrome.
    Lubinsky M.
    J Clin Dysmorphol; 1983 Nov 15; 1(3):25-7. PubMed ID: 6584559
    [No Abstract] [Full Text] [Related]

  • 31. Mosaic 46, XY/47,XY, + der(18)t(Y;18)(q11.22;q11.2) karyotype, moderate mental retardation and non-specific dysmorphism.
    Fryns JP, Kleczkowska A, Van Den Berghe H.
    Genet Couns; 1990 Nov 15; 1(2):173-7. PubMed ID: 2081001
    [No Abstract] [Full Text] [Related]

  • 32. Teschler-Nicola/Killian syndrome.
    Pagon RA.
    J Clin Dysmorphol; 1983 Nov 15; 1(3):18-9. PubMed ID: 6584556
    [No Abstract] [Full Text] [Related]

  • 33. Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.
    Polityko AD, Goncharova E, Shamgina L, Drozdovskaja N, Podleschuk L, Abramchik E, Jaroshevich E, Khurs O, Pisarik I, Pribushenya O, Rumyantseva N, Naumchik I.
    J Histochem Cytochem; 2005 Mar 15; 53(3):361-4. PubMed ID: 15750020
    [Abstract] [Full Text] [Related]

  • 34. A translocation between chromosome 1 and 10 in a boy with mental retardation and dysmorphic features.
    Gambhir PS, Gole LA, Tembe MV, Saraph AA, Phadke MA, Khedkar VA.
    Indian Pediatr; 1991 Mar 15; 28(3):289-91. PubMed ID: 1937707
    [No Abstract] [Full Text] [Related]

  • 35. Cytogenetic study of a severe case of Pallister-Killian syndrome using fluorescence in situ hybridization.
    Gamal SM, Hasegawa T, Satoh H, Watanabe T, Endo K, Satoh Y.
    Jpn J Hum Genet; 1994 Jun 15; 39(2):259-67. PubMed ID: 8086644
    [Abstract] [Full Text] [Related]

  • 36. [Pallister-Killian syndrome and 12p tetrasomy: increased LDH-B activity].
    Antich Femenias J, Briones Godino MP, Vilaseca Busca MA, Girós Blasco ML, Campos Castelló J, Jaume Roig B, Clusellas Casals N.
    An Esp Pediatr; 1991 Jun 15; 34(6):459-62. PubMed ID: 1929015
    [No Abstract] [Full Text] [Related]

  • 37. Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases.
    Struthers JL, Cuthbert CD, Khalifa MM.
    Am J Med Genet; 1999 May 21; 84(2):111-5. PubMed ID: 10323734
    [Abstract] [Full Text] [Related]

  • 38. Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?
    Legius E, Fryns JP, Casaer P, Boel M, Eggermont E.
    Ann Genet; 1985 May 21; 28(4):239-40. PubMed ID: 3879437
    [Abstract] [Full Text] [Related]

  • 39. Teschler-Nicola/Killian syndrome: a case report.
    Hersh JH, Graham JM, Destrempes MM, Greenstein RM.
    J Clin Dysmorphol; 1983 May 21; 1(3):20-4. PubMed ID: 6584558
    [No Abstract] [Full Text] [Related]

  • 40. A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome).
    Tejada MI, Uribarren A, Briones P, Vilaseca MA.
    Prenat Diagn; 1992 Jun 21; 12(6):529-34. PubMed ID: 1513756
    [Abstract] [Full Text] [Related]

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