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Journal Abstract Search

508 related items for PubMed ID: 10422004

  • 1. Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.
    Engelen JJ, Loots WJ, Albrechts JC, Schrander-Stumpel CT, Dirckx R, Smeets HJ, Hamers AJ, Geraedts JP.
    Genet Couns; 1999; 10(2):123-32. PubMed ID: 10422004
    [Abstract] [Full Text] [Related]

  • 2. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
    Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.
    Biol Psychiatry; 2009 Aug 15; 66(4):349-59. PubMed ID: 19278672
    [Abstract] [Full Text] [Related]

  • 3. Molecular markers for diagnosis of Prader-Willi syndrome in thai patients by fish.
    Wiriyaukaradecha S, Patmasiriwat P, Wasant P, Tantiniti P.
    Southeast Asian J Trop Med Public Health; 2003 Dec 15; 34(4):881-6. PubMed ID: 15115105
    [Abstract] [Full Text] [Related]

  • 4. FISH analysis in Prader-Willi and Angelman syndrome patients.
    Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L.
    Am J Med Genet; 1995 Mar 27; 56(2):224-8. PubMed ID: 7625450
    [Abstract] [Full Text] [Related]

  • 5. Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
    Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.
    Eur J Hum Genet; 2006 Jul 27; 14(7):831-7. PubMed ID: 16617304
    [Abstract] [Full Text] [Related]

  • 6. Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.
    Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, Nicholls RD.
    Am J Med Genet; 1993 Oct 01; 47(5):683-6. PubMed ID: 8266996
    [Abstract] [Full Text] [Related]

  • 7. Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.
    Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn PA.
    Am J Med Genet; 1994 Aug 01; 52(1):85-91. PubMed ID: 7977469
    [Abstract] [Full Text] [Related]

  • 8. FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.
    Cockwell AE, Dávalos IP, Rivera HR, Crolla JA.
    Am J Med Genet; 2001 Nov 01; 103(4):289-94. PubMed ID: 11746008
    [Abstract] [Full Text] [Related]

  • 9. Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region.
    Butler MG, Bittel D, Talebizadeh Z.
    J Med Genet; 2002 Mar 01; 39(3):202-4. PubMed ID: 11897825
    [No 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 01; 129(4):367-74. PubMed ID: 11413988
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 27(5):579-85. PubMed ID: 17159828
    [Abstract] [Full Text] [Related]

  • 12. Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.
    Goossens E, Decock P, Potgieter S, Fryns JP.
    Genet Couns; 1999 Oct 01; 10(2):133-6. PubMed ID: 10422005
    [Abstract] [Full Text] [Related]

  • 13. Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR.
    Gregory CA, Kirkilionis AJ, Greenberg CR, Chudley AE, Hamerton JL.
    Am J Med Genet; 1990 Apr 01; 35(4):536-45. PubMed ID: 1970703
    [Abstract] [Full Text] [Related]

  • 14. Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.
    Kalsner L, Chamberlain SJ.
    Pediatr Clin North Am; 2015 Jun 01; 62(3):587-606. PubMed ID: 26022164
    [Abstract] [Full Text] [Related]

  • 15. Rearrangements of chromosome 15 in epilepsy.
    Torrisi L, Sangiorgi E, Russo L, Gurrieri F.
    Am J Med Genet; 2001 Jun 01; 106(2):125-8. PubMed ID: 11579432
    [Abstract] [Full Text] [Related]

  • 16. Unique karyotypes in two patients with Prader-Willi syndrome.
    Narahara K, Hiramoto K, Murakami M, Miyake S, Tsuji K, Yokoyama Y, Namba H, Ninomiya S, Murakami R, Seino Y.
    Am J Med Genet; 1992 Mar 01; 42(5):671-7. PubMed ID: 1632436
    [Abstract] [Full Text] [Related]

  • 17. Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers.
    Molina O, Blanco J, Vidal F.
    Mol Hum Reprod; 2010 May 01; 16(5):320-8. PubMed ID: 20083560
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 Oct 01; 116(1-2):135-40. PubMed ID: 17268193
    [Abstract] [Full Text] [Related]

  • 20. [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; 2007 Oct 01; 32(10):935-8. PubMed ID: 11424049
    [Abstract] [Full Text] [Related]

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