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Results: 1 to 20 of 451

1.

Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities.

Bittel DC, Kibiryeva N, Butler MG.

Genet Test. 2007 Winter;11(4):467-75. doi: 10.1089/gte.2007.0061.

PMID:
18294067
[PubMed - indexed for MEDLINE]
2.

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. Epub 2006 May 11.

PMID:
16690734
[PubMed - indexed for MEDLINE]
Free Article
3.

Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.

Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, Butler MG.

Genet Test Mol Biomarkers. 2012 Mar;16(3):178-86. doi: 10.1089/gtmb.2011.0115. Epub 2011 Oct 6.

PMID:
21977908
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

[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. Chinese.

PMID:
19159549
[PubMed - indexed for MEDLINE]
5.

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 15;66(4):349-59. doi: 10.1016/j.biopsych.2009.01.025. Epub 2009 Mar 17.

PMID:
19278672
[PubMed - indexed for MEDLINE]
6.

Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.

Dikow N, Nygren AO, Schouten JP, Hartmann C, Krämer N, Janssen B, Zschocke J.

Mol Cell Probes. 2007 Jun;21(3):208-15. Epub 2007 Jan 12.

PMID:
17303379
[PubMed - indexed for MEDLINE]
7.

Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.

Shao H, Lip V, Wu BL.

Beijing Da Xue Xue Bao. 2005 Feb 18;37(1):64-7.

PMID:
15719045
[PubMed - indexed for MEDLINE]
Free Article
8.

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 30;37(5):522-6.

PMID:
15479613
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

PMID:
1487250
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
8641697
[PubMed - indexed for MEDLINE]
11.

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. Erratum in: J Med Genet 2000 May;37(5):399.

PMID:
9643288
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Prader-Willi and Angelman syndromes. Disorders of genomic imprinting.

Cassidy SB, Schwartz S.

Medicine (Baltimore). 1998 Mar;77(2):140-51. Review.

PMID:
9556704
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
9860294
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
17268193
[PubMed - indexed for MEDLINE]
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 1;47(5):683-6.

PMID:
8266996
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
9028458
[PubMed - indexed for MEDLINE]
17.

Mechanisms of imprinting of the Prader-Willi/Angelman region.

Horsthemke B, Wagstaff J.

Am J Med Genet A. 2008 Aug 15;146A(16):2041-52. doi: 10.1002/ajmg.a.32364. Review.

PMID:
18627066
[PubMed - indexed for MEDLINE]
18.

Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction.

Teng YN, Tsai WH, Wu CJ, Lin SJ, Chen YJ, Kuo PL.

J Formos Med Assoc. 2002 Jul;101(7):488-94.

PMID:
12353341
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
9004133
[PubMed - indexed for MEDLINE]
Free PMC Article

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