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Journal Abstract Search

233 related items for PubMed ID: 11464243

  • 1. 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]

  • 2. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
    Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD.
    Am J Med Genet; 1997 Jan 20; 68(2):195-206. PubMed ID: 9028458
    [Abstract] [Full Text] [Related]

  • 3. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
    Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B.
    Nat Genet; 1995 Apr 20; 9(4):395-400. PubMed ID: 7795645
    [Abstract] [Full Text] [Related]

  • 4. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
    Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH.
    Am J Med Genet; 1996 Dec 02; 66(1):77-80. PubMed ID: 8957518
    [Abstract] [Full Text] [Related]

  • 5. 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 Dec 02; 50(1):11-20. PubMed ID: 17095305
    [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. Control elements within the PWS/AS imprinting box and their function in the imprinting process.
    Kantor B, Makedonski K, Green-Finberg Y, Shemer R, Razin A.
    Hum Mol Genet; 2004 Apr 01; 13(7):751-62. PubMed ID: 14962980
    [Abstract] [Full Text] [Related]

  • 8. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting.
    Glenn CC, Deng G, Michaelis RC, Tarleton J, Phelan MC, Surh L, Yang TP, Driscoll DJ.
    Prenat Diagn; 2000 Apr 01; 20(4):300-6. PubMed ID: 10740202
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 13(3):273-7. PubMed ID: 15578038
    [Abstract] [Full Text] [Related]

  • 10. [Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
    Li MR, Wang XZ, Liu XY, Yang YL, Bao XH, Zhang YH, Xiong H, Zhong N, Qin J, Wu XR, Pan H.
    Zhonghua Yi Xue Za Zhi; 2008 Dec 16; 88(46):3257-61. PubMed ID: 19159549
    [Abstract] [Full Text] [Related]

  • 11. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
    Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W.
    Hum Mol Genet; 1997 Mar 16; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

  • 12. 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 Mar 16; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 13. Maternal methylation imprints on human chromosome 15 are established during or after fertilization.
    El-Maarri O, Buiting K, Peery EG, Kroisel PM, Balaban B, Wagner K, Urman B, Heyd J, Lich C, Brannan CI, Walter J, Horsthemke B.
    Nat Genet; 2001 Mar 16; 27(3):341-4. PubMed ID: 11242121
    [Abstract] [Full Text] [Related]

  • 14. Imprinting defects on human chromosome 15.
    Horsthemke B, Buiting K.
    Cytogenet Genome Res; 2006 Mar 16; 113(1-4):292-9. PubMed ID: 16575192
    [Abstract] [Full Text] [Related]

  • 15. The imprinting box of the Prader-Willi/Angelman syndrome domain.
    Shemer R, Hershko AY, Perk J, Mostoslavsky R, Tsuberi B, Cedar H, Buiting K, Razin A.
    Nat Genet; 2000 Dec 16; 26(4):440-3. PubMed ID: 11101841
    [Abstract] [Full Text] [Related]

  • 16. Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).
    Varela MC, Lopes GM, Koiffmann CP.
    Ann Genet; 2004 Dec 16; 47(3):267-73. PubMed ID: 15337472
    [Abstract] [Full Text] [Related]

  • 17. Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13.
    Buchholz T, Jackson J, Smith A.
    Am J Med Genet; 1997 Oct 03; 72(1):117-9. PubMed ID: 9295088
    [No Abstract] [Full Text] [Related]

  • 18. 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 03; 7(6):638-44. PubMed ID: 10482951
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 Aug 15; 116(1-2):135-40. PubMed ID: 17268193
    [Abstract] [Full Text] [Related]

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