BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

489 related articles for article (PubMed ID: 9674903)

  • 1. 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; 78(2):134-9. PubMed ID: 9674903
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 27(5):579-85. PubMed ID: 17159828
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 12(4):452-4. PubMed ID: 8630505
    [TBL] [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; 66(1):77-80. PubMed ID: 8957518
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
    Klein OD; Cotter PD; Albertson DG; Pinkel D; Tidyman WE; Moore MW; Rauen KA
    Clin Genet; 2004 Jun; 65(6):477-82. PubMed ID: 15151506
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
    Ginsburg C; Fokstuen S; Schinzel A
    Am J Med Genet; 2000 Dec; 95(5):454-60. PubMed ID: 11146466
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 47(3):267-73. PubMed ID: 15337472
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sporadic occurrence of nondeletion Prader-Willi syndrome in two cases: a female with maternal uniparental disomy and a male with complex chromosomal rearrangement.
    Murthy SK; al-Nassar KE; Verghese L
    Nutrition; 1995; 11(5 Suppl):650-2. PubMed ID: 8748243
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 68(2):195-206. PubMed ID: 9028458
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
    Robinson WP; Langlois S; Schuffenhauer S; Horsthemke B; Michaelis RC; Christian S; Ledbetter DH; Schinzel A
    Prenat Diagn; 1996 Sep; 16(9):837-44. PubMed ID: 8905898
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region.
    Knoll JH; Cheng SD; Lalande M
    Nat Genet; 1994 Jan; 6(1):41-6. PubMed ID: 8136833
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 12(20):2723-32. PubMed ID: 12944418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Prader-Willi syndrome and genomic imprinting].
    Wang W; Wang DF; Cui YF; Ni JH; Dong ZY; Fu MF; Fu HM; Lu GQ; Chen FS
    Zhonghua Er Ke Za Zhi; 2003 Jun; 41(6):453-6. PubMed ID: 14749005
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
    Zilina O; Kahre T; Talvik I; Oiglane-Shlik E; Tillmann V; Ounap K
    Eur J Med Genet; 2014; 57(6):279-83. PubMed ID: 24704109
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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; 2001 May 16-31; 32(10):935-8. PubMed ID: 11424049
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 12(3):181-6. PubMed ID: 14694357
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
    Ozçelik T; Leff S; Robinson W; Donlon T; Lalande M; Sanjines E; Schinzel A; Francke U
    Nat Genet; 1992 Dec; 2(4):265-9. PubMed ID: 1303277
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
    Cho SY; Ki CS; Sohn YB; Maeng SH; Jung YJ; Kim SJ; Jin DK
    J Hum Genet; 2013 Mar; 58(3):150-4. PubMed ID: 23303386
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome.
    Salavoura K; Kolialexi A; Sofocleous C; Kalaitzidaki M; Pampanos A; Kitsiou S; Mavrou A
    Genet Couns; 2008; 19(2):219-24. PubMed ID: 18618997
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.
    L'Herminé AC; Aboura A; Brisset S; Cuisset L; Castaigne V; Labrune P; Frydman R; Tachdjian G
    Prenat Diagn; 2003 Nov; 23(11):938-43. PubMed ID: 14634983
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.