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Journal Abstract Search


133 related items for PubMed ID: 35993792

  • 1. Trisomy 12p mosaicism syndrome in a patient with hypopigmented cutaneous mosaicism and three cell lines in peripheral blood.
    Porcar Saura S, Díaz Giménez M, Guillén-Climent S, Villar C, Ruiz Quilez A, Abellán Sanchez MR, Cuesta Peredo A, Martín JM.
    J Eur Acad Dermatol Venereol; 2023 Jan; 37(1):e54-e58. PubMed ID: 35993792
    [No Abstract] [Full Text] [Related]

  • 2. [Hypomelanosis of Ito in a girl with Trisomy 13 mosaicism: a cytogenetic study].
    Ronger S, Till M, Kanitakis J, Balme B, Thomas L.
    Ann Dermatol Venereol; 2003 Nov; 130(11):1033-8. PubMed ID: 14724538
    [Abstract] [Full Text] [Related]

  • 3. Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.
    Schmidt H, Uhrig S, Lederer G, Murken J, Speicher MR, Schuffenhauer S.
    J Med Genet; 2000 Oct; 37(10):804-7. PubMed ID: 11183189
    [No Abstract] [Full Text] [Related]

  • 4. Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
    Pauli S, Schmidt T, Funke R, Zoll B, Burfeind P, Dybowski U, Shoukier M, Bartels I.
    Eur J Med Genet; 2012 Oct; 55(8-9):480-4. PubMed ID: 22677035
    [Abstract] [Full Text] [Related]

  • 5. Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development.
    Baty BJ, Olson SB, Magenis RE, Carey JC.
    Am J Med Genet; 2001 Mar 15; 99(3):210-6. PubMed ID: 11241492
    [Abstract] [Full Text] [Related]

  • 6. De novo trisomy 12p in twin girls with different levels of mosaicism.
    Lim EC, Ng IS, Yong MH, Yon HY, Brett MS, Tan EC.
    Am J Med Genet A; 2013 Jul 15; 161A(7):1702-5. PubMed ID: 23686734
    [Abstract] [Full Text] [Related]

  • 7. Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report.
    Ponti G, Pellacani G, Tomasi A, Percesepe A, Guarneri C, Guerra A, Mandel VD, Kisla E, Cevikel P, Neri C, Menozzi C, Seidenari S.
    J Med Case Rep; 2014 Oct 09; 8():333. PubMed ID: 25301139
    [Abstract] [Full Text] [Related]

  • 8. Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature.
    Boon C, Markello T, Jackson-Cook C, Pandya A.
    Clin Genet; 1996 Nov 09; 50(5):417-21. PubMed ID: 9007335
    [Abstract] [Full Text] [Related]

  • 9. Hypomelanosis of ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10), +13/46,xy].
    Yakinci C, Kutlu NO, Alp MN, Senol M, Durmaz Y, Budak T.
    Turk J Pediatr; 2002 Nov 09; 44(2):152-5. PubMed ID: 12026206
    [Abstract] [Full Text] [Related]

  • 10. Pigmentary mosaicism with trisomy 7.
    Park MY, Jin H, You HS, Shim WH, Kim GW, Kim HS, Kim BS, Kim MB, Ko HC.
    J Dermatol; 2018 Feb 09; 45(2):e47-e48. PubMed ID: 29047159
    [No Abstract] [Full Text] [Related]

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  • 13. Trisomy 12p mosaicism syndrome.
    Karki CB, Walters RM.
    J Ment Defic Res; 1990 Feb 09; 34 ( Pt 1)():75-80. PubMed ID: 2139132
    [Abstract] [Full Text] [Related]

  • 14. Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
    Ausems MG, Schuil J, Van Raveswaaij-Arts C, De Pater JM.
    Genet Couns; 2004 Feb 09; 15(4):405-10. PubMed ID: 15658615
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Phylloid pigmentary pattern with mosaic trisomy 13.
    Horn D, Rommeck M, Sommer D, Körner H.
    Pediatr Dermatol; 1997 Dec 15; 14(4):278-80. PubMed ID: 9263307
    [Abstract] [Full Text] [Related]

  • 17. Prenatally detected trisomy 7 mosaicism in a dysmorphic child.
    Kivirikko S, Salonen R, Salo A, von Koskull H.
    Prenat Diagn; 2002 Jul 15; 22(7):541-4. PubMed ID: 12124684
    [Abstract] [Full Text] [Related]

  • 18. Clinical features of trisomy 12 mosaicism-Report and review.
    Hong B, Zunich J, Openshaw A, Toydemir RM.
    Am J Med Genet A; 2017 Jun 15; 173(6):1681-1686. PubMed ID: 28345774
    [Abstract] [Full Text] [Related]

  • 19. Trisomy 12 mosaicism diagnosed by amniocentesis.
    Brosens JJ, Overton C, Lavery SA, Thornton S.
    Acta Obstet Gynecol Scand; 1996 Jan 15; 75(1):79-81. PubMed ID: 8561005
    [No Abstract] [Full Text] [Related]

  • 20. Trisomy 2 mosaicism in hypomelanosis of Ito.
    Gupta S, Shah S, Mcgaw A, Mercado T, Zaslav AL, Tegay D.
    Am J Med Genet A; 2007 Oct 15; 143A(20):2466-8. PubMed ID: 17853474
    [No Abstract] [Full Text] [Related]


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