These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

104 related items for PubMed ID: 15578038

  • 1. Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.
    Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A.
    Eur J Hum Genet; 2005 Mar; 13(3):273-7. PubMed ID: 15578038
    [Abstract] [Full Text] [Related]

  • 2. A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.
    Baumer A, Wiedemann U, Hergersberg M, Schinzel A.
    Hum Mutat; 2001 May; 17(5):423-30. PubMed ID: 11317358
    [Abstract] [Full Text] [Related]

  • 3. Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
    Runte M, Färber C, Lich C, Zeschnigk M, Buchholz T, Smith A, Van Maldergem L, Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K.
    Eur J Hum Genet; 2001 Jul; 9(7):519-26. PubMed ID: 11464243
    [Abstract] [Full Text] [Related]

  • 4. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
    Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martínez MJ, Poyatos D, Guitart M.
    Eur J Med Genet; 2007 Jul; 50(1):11-20. PubMed ID: 17095305
    [Abstract] [Full Text] [Related]

  • 5. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.
    Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpass L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K.
    Hum Mol Genet; 2003 Oct 15; 12(20):2723-32. PubMed ID: 12944418
    [Abstract] [Full Text] [Related]

  • 6. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
    Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK.
    Am J Med Genet; 1998 Jun 30; 78(2):134-9. PubMed ID: 9674903
    [Abstract] [Full Text] [Related]

  • 7. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
    Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z.
    Neuro Endocrinol Lett; 2006 Oct 30; 27(5):579-85. PubMed ID: 17159828
    [Abstract] [Full Text] [Related]

  • 8. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
    Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B.
    Eur J Hum Genet; 1997 Oct 30; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 9. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
    Gillessen-Kaesbach G, Demuth S, Thiele H, Theile U, Lich C, Horsthemke B.
    Eur J Hum Genet; 1999 Sep 30; 7(6):638-44. PubMed ID: 10482951
    [Abstract] [Full Text] [Related]

  • 10. [Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis].
    Santa María L, Curotto B, Cortés F, Rojas C, Alliende MA.
    Rev Med Chil; 2001 Apr 30; 129(4):367-74. PubMed ID: 11413988
    [Abstract] [Full Text] [Related]

  • 11. Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization.
    Mowery-Rushton PA, Hanchett JM, Zipf WB, Rogan PK, Surti U.
    Am J Med Genet; 1996 Dec 30; 66(4):403-12. PubMed ID: 8989457
    [Abstract] [Full Text] [Related]

  • 12. [Prader-Willi syndrome large deletion on two brothers. Is this the exception that confirm the rule?].
    Fernández-Novoa MC, Vargas MT, Vizmanos JL, Garnacho C, Martínez JJ, Sanz P, Lluch D.
    Rev Neurol; 1996 Dec 30; 32(10):935-8. PubMed ID: 11424049
    [Abstract] [Full Text] [Related]

  • 13. [A clinical, cytogenetic and molecular study of 10 patients with the Prader-Willi syndrome].
    Barabash A, Robledo M, Sanz R, Renedo M, Ramos C, Ayuso C, Benítez J.
    Med Clin (Barc); 1997 Mar 01; 108(8):304-6. PubMed ID: 9121208
    [Abstract] [Full Text] [Related]

  • 14. Low level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization.
    Chaddha V, Agarwal S, Phadke SR, Halder A.
    Indian Pediatr; 2003 Feb 01; 40(2):166-8. PubMed ID: 12626835
    [Abstract] [Full Text] [Related]

  • 15. Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.
    Nazlican H, Zeschnigk M, Claussen U, Michel S, Boehringer S, Gillessen-Kaesbach G, Buiting K, Horsthemke B.
    Hum Mol Genet; 2004 Nov 01; 13(21):2547-55. PubMed ID: 15385437
    [Abstract] [Full Text] [Related]

  • 16. Molecular diagnosis of Prader-Willi syndrome.
    Pangkanon S.
    J Med Assoc Thai; 2003 Aug 01; 86 Suppl 3():S510-6. PubMed ID: 14700141
    [Abstract] [Full Text] [Related]

  • 17. [Quick diagnosis of Prader-Willi and Angelman syndromes by means of methylation test by PCR].
    Huerta Rivas C, Barabash Bustelo A, Gallego Merlo J, Ramos Corrales C, Osorio Cabrero A, Robledo Batanero M, Benítez Ortiz J.
    An Esp Pediatr; 1998 Jun 01; 48(6):583-6. PubMed ID: 9662840
    [Abstract] [Full Text] [Related]

  • 18. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
    Murthy SK, Nygren AO, El Shakankiry HM, Schouten JP, Al Khayat AI, Ridha A, Al Ali MT.
    Cytogenet Genome Res; 2007 Jun 01; 116(1-2):135-40. PubMed ID: 17268193
    [Abstract] [Full Text] [Related]

  • 19. [Detection of Prader-Willi syndrome by methylation-specific PCR].
    Song M, Li L, Fu J, Li X, Lu G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2000 Feb 01; 17(1):54-6. PubMed ID: 10653912
    [Abstract] [Full Text] [Related]

  • 20. Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.
    Saitoh S, Hosoki K, Takano K, Tonoki H.
    Clin Genet; 2007 Oct 01; 72(4):378-80. PubMed ID: 17850637
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 6.