BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

299 related articles for article (PubMed ID: 26335514)

  • 21. Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.
    Hassan M; Butler MG
    Eur J Med Genet; 2016 Nov; 59(11):584-589. PubMed ID: 27659713
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.
    White HE; Hall VJ; Cross NC
    Clin Chem; 2007 Nov; 53(11):1960-2. PubMed ID: 17890436
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.
    Hogart A; Leung KN; Wang NJ; Wu DJ; Driscoll J; Vallero RO; Schanen NC; LaSalle JM
    J Med Genet; 2009 Feb; 46(2):86-93. PubMed ID: 18835857
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.
    Yamada M; Okuno H; Okamoto N; Suzuki H; Miya F; Takenouchi T; Kosaki K
    Eur J Med Genet; 2023 Feb; 66(2):104690. PubMed ID: 36587803
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.
    Morandi A; Bonnefond A; Lobbens S; Carotenuto M; Del Giudice EM; Froguel P; Maffeis C
    Am J Med Genet A; 2015 Nov; 167A(11):2720-6. PubMed ID: 26109092
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood.
    Wevrick R; Francke U
    Lancet; 1996 Oct; 348(9034):1068-9. PubMed ID: 8874459
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.
    Stefan M; Portis T; Longnecker R; Nicholls RD
    Genomics; 2005 May; 85(5):630-40. PubMed ID: 15820315
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The genetic basis for Prader-Willi syndrome: the importance of imprinted genes.
    Brøndum-Nielsen K
    Acta Paediatr Suppl; 1997 Nov; 423():55-7. PubMed ID: 9401540
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
    Kim SJ; Miller JL; Kuipers PJ; German JR; Beaudet AL; Sahoo T; Driscoll DJ
    Eur J Hum Genet; 2012 Mar; 20(3):283-90. PubMed ID: 22045295
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes.
    Borelina D; Engel N; Esperante S; Ferreiro V; Ferrer M; Torrado M; Goldschmidt E; Francipane L; Szijan I
    J Biochem Mol Biol; 2004 Sep; 37(5):522-6. PubMed ID: 15479613
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular characterization of Prader-Willi syndrome by real-time PCR.
    Munce T; Simpson R; Bowling F
    Genet Test; 2008 Jun; 12(2):319-24. PubMed ID: 18554170
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes.
    Mahmoud R; Singh P; Weiss L; Lakatos A; Oakes M; Hossain W; Butler MG; Kimonis V
    Am J Med Genet A; 2019 Jan; 179(1):29-36. PubMed ID: 30556641
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.
    Liu W; Zhang R; Wei J; Zhang H; Yu G; Li Z; Chen M; Sun X
    Cytogenet Genome Res; 2015; 146(1):9-18. PubMed ID: 26184742
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13.
    Chang CW; Hsu HK; Kao CC; Huang JY; Kuo PL
    Int J Gynaecol Obstet; 2014 Apr; 125(1):18-21. PubMed ID: 24434231
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Molecular analysis in Prader-Willi syndrome diagnosis].
    Szpecht-Potocka A
    Med Wieku Rozwoj; 1999; 3(3):407-19. PubMed ID: 10910667
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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; 116(1-2):135-40. PubMed ID: 17268193
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients.
    Ribeiro Ferreira I; Darleans Dos Santos Cunha W; Henrique Ferreira Gomes L; Azevedo Cintra H; Lopes Cabral Guimarães Fonseca L; Ferreira Bastos E; Clinton Llerena J; Farias Meira de Vasconcelos Z; da Cunha Guida L
    Mol Genet Genomic Med; 2019 Jun; 7(6):e637. PubMed ID: 31033246
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.