246 related articles for article (PubMed ID: 31033246)
1. 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]
2. 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]
3. A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.
Dos Santos JF; Mota LR; Rocha PH; Ferreira de Lima RL
Mol Biol Rep; 2016 Nov; 43(11):1221-1225. PubMed ID: 27535666
[TBL] [Abstract][Full Text] [Related]
4. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
Procter M; Chou LS; Tang W; Jama M; Mao R
Clin Chem; 2006 Jul; 52(7):1276-83. PubMed ID: 16690734
[TBL] [Abstract][Full Text] [Related]
5. Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
White HE; Durston VJ; Harvey JF; Cross NC
Clin Chem; 2006 Jun; 52(6):1005-13. PubMed ID: 16574761
[TBL] [Abstract][Full Text] [Related]
6. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
Chotai KA; Payne SJ
J Med Genet; 1998 Jun; 35(6):472-5. PubMed ID: 9643288
[TBL] [Abstract][Full Text] [Related]
7. 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; 6(3):387-95. PubMed ID: 9147641
[TBL] [Abstract][Full Text] [Related]
8. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
Erdel M; Schuffenhauer S; Buchholz B; Barth-Witte U; Köchl S; Utermann B; Duba HC; Utermann G
Hum Genet; 1996 Jun; 97(6):784-93. PubMed ID: 8641697
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.
Hussain Askree S; Hjelm LN; Ali Pervaiz M; Adam M; Bean LJ; Hedge M; Coffee B
J Mol Diagn; 2011 Jan; 13(1):108-12. PubMed ID: 21227401
[TBL] [Abstract][Full Text] [Related]
11. 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; 5(2):94-8. PubMed ID: 9195159
[TBL] [Abstract][Full Text] [Related]
12. Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
Kim B; Park Y; Cho SI; Kim MJ; Chae JH; Kim JY; Seong MW; Park SS
Ann Lab Med; 2022 Jan; 42(1):79-88. PubMed ID: 34374352
[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. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
Dittrich B; Robinson WP; Knoblauch H; Buiting K; Schmidt K; Gillessen-Kaesbach G; Horsthemke B
Hum Genet; 1992 Nov; 90(3):313-5. PubMed ID: 1487250
[TBL] [Abstract][Full Text] [Related]
15. Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.
Kosaki K; McGinniss MJ; Veraksa AN; McGinnis WJ; Jones KL
Am J Med Genet; 1997 Dec; 73(3):308-13. PubMed ID: 9415690
[TBL] [Abstract][Full Text] [Related]
16. Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
Kubota T; Aradhya S; Macha M; Smith AC; Surh LC; Satish J; Verp MS; Nee HL; Johnson A; Christan SL; Ledbetter DH
J Med Genet; 1996 Dec; 33(12):1011-4. PubMed ID: 9004133
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Detection and discrimination between deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific PCR and quantitative melting curve analysis.
Wang W; Law HY; Chong SS
J Mol Diagn; 2009 Sep; 11(5):446-9. PubMed ID: 19661385
[TBL] [Abstract][Full Text] [Related]
19. Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes.
Buchholz T; Jackson J; Robson L; Smith A
Hum Genet; 1998 Nov; 103(5):535-9. PubMed ID: 9860294
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]