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Journal Abstract Search

852 related items for PubMed ID: 9028458

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
    Schulze A, Hansen C, Skakkebaek NE, Brøndum-Nielsen K, Ledbeter DH, Tommerup N.
    Nat Genet; 1996 Apr 02; 12(4):452-4. PubMed ID: 8630505
    [Abstract] [Full Text] [Related]

  • 5. 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 02; 20(4):300-6. PubMed ID: 10740202
    [Abstract] [Full Text] [Related]

  • 6. 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 02; 9(7):519-26. PubMed ID: 11464243
    [Abstract] [Full Text] [Related]

  • 7. 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 02; 50(1):11-20. PubMed ID: 17095305
    [Abstract] [Full Text] [Related]

  • 8. [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]

  • 9. [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 16; 129(4):367-74. PubMed ID: 11413988
    [Abstract] [Full Text] [Related]

  • 10. Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
    Flori E, Biancalana V, Girard-Lemaire F, Favre R, Flori J, Doray B, Mandel JL.
    Eur J Hum Genet; 2004 Mar 16; 12(3):181-6. PubMed ID: 14694357
    [Abstract] [Full Text] [Related]

  • 11. [Molecular genetic study of causes of the Prader-Willi and Angelman syndrome].
    Capková CP, Vrtĕl R, Santavá A, Zapletalová J, Krsiaková J, Hyjánek J, Santavý J.
    Cas Lek Cesk; 2005 Mar 16; 144(2):113-8. PubMed ID: 15807298
    [Abstract] [Full Text] [Related]

  • 12. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
    Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL.
    Nat Genet; 1994 Sep 16; 8(1):52-8. PubMed ID: 7987392
    [Abstract] [Full Text] [Related]

  • 13. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review.
    Nicholls RD.
    Am J Med Genet; 1993 Apr 01; 46(1):16-25. PubMed ID: 8388169
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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]

  • 16. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 01; 35(6):472-5. PubMed ID: 9643288
    [Abstract] [Full Text] [Related]

  • 17. 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 Jun 01; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 18. [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; 1997 Jun 01; 32(10):935-8. PubMed ID: 11424049
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. A mouse model for Prader-Willi syndrome imprinting-centre mutations.
    Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannan CI.
    Nat Genet; 1998 May 01; 19(1):25-31. PubMed ID: 9590284
    [Abstract] [Full Text] [Related]

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