404 related articles for article (PubMed ID: 15479613)
1. 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]
2. 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]
3. 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]
4. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Muthusamy K; Macke EL; Klee EW; Tebben PJ; Hand JL; Hasadsri L; Marcou CA; Schimmenti LA
Am J Med Genet A; 2020 Oct; 182(10):2442-2449. PubMed ID: 32815268
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay].
Rios-Flores IM; Bobadilla-Morales L; Peña Padilla C; Corona-Rivera A; Acosta-Fernández E; Santana-Hernández J; Brukman-Jiménez SA; Corona Rivera JR
Rev Med Inst Mex Seguro Soc; 2021 Jun; 59(2):170-178. PubMed ID: 34232598
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
Zhang K; Liu S; Feng B; Yang Y; Zhang H; Dong R; Liu Y; Gai Z
PLoS One; 2016; 11(2):e0147824. PubMed ID: 26841067
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
Glenn CC; Driscoll DJ; Yang TP; Nicholls RD
Mol Hum Reprod; 1997 Apr; 3(4):321-32. PubMed ID: 9237260
[TBL] [Abstract][Full Text] [Related]
12. [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; 88(46):3257-61. PubMed ID: 19159549
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Glenn CC; Nicholls RD; Robinson WP; Saitoh S; Niikawa N; Schinzel A; Horsthemke B; Driscoll DJ
Hum Mol Genet; 1993 Sep; 2(9):1377-82. PubMed ID: 8242060
[TBL] [Abstract][Full Text] [Related]
15. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
Mutirangura A; Greenberg F; Butler MG; Malcolm S; Nicholls RD; Chakravarti A; Ledbetter DH
Hum Mol Genet; 1993 Feb; 2(2):143-51. PubMed ID: 8499903
[TBL] [Abstract][Full Text] [Related]
16. 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; 66(4):349-59. PubMed ID: 19278672
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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; 20(4):300-6. PubMed ID: 10740202
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.
Liehr T; Brude E; Gillessen-Kaesbach G; König R; Mrasek K; von Eggeling F; Starke H
Eur J Med Genet; 2005; 48(2):175-81. PubMed ID: 16053909
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
