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Items: 1 to 20 of 117

1.

Genes, assisted reproductive technology and trans-illumination.

Dias RP, Maher ER.

Epigenomics. 2013 Jun;5(3):331-40. doi: 10.2217/epi.13.28. Review.

PMID:
23750647
2.

Human imprinting syndromes.

Lim DH, Maher ER.

Epigenomics. 2009 Dec;1(2):347-69. doi: 10.2217/epi.09.24. Review.

PMID:
22122706
3.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ.

Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086.

4.

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.

Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, Guitart M, Perez de Nanclares G, Lapunzina P, Monk D.

Hum Mutat. 2013 Apr;34(4):595-602. doi: 10.1002/humu.22276. Epub 2013 Feb 19.

PMID:
23335487
5.

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.

Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T.

Hum Reprod. 2012 Aug;27(8):2541-8. doi: 10.1093/humrep/des197. Epub 2012 Jun 6.

PMID:
22674207
6.

Genomic imprinting syndromes and cancer.

Lim DH, Maher ER.

Adv Genet. 2010;70:145-75. doi: 10.1016/B978-0-12-380866-0.60006-X. Review.

PMID:
20920748
7.

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, Woods CG, Reik W, Maher ER.

PLoS Genet. 2009 Mar;5(3):e1000423. doi: 10.1371/journal.pgen.1000423. Epub 2009 Mar 20.

8.

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell.

Tomizawa S, Sasaki H.

J Hum Genet. 2012 Feb;57(2):84-91. doi: 10.1038/jhg.2011.151. Epub 2012 Jan 12. Review.

PMID:
22237588
9.

Epigenetics, genomic imprinting and assisted reproductive technology.

Le Bouc Y, Rossignol S, Azzi S, Steunou V, Netchine I, Gicquel C.

Ann Endocrinol (Paris). 2010 May;71(3):237-8. doi: 10.1016/j.ando.2010.02.004. Epub 2010 Apr 2.

PMID:
20362968
10.

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.

Soejima H, Higashimoto K.

J Hum Genet. 2013 Jul;58(7):402-9. doi: 10.1038/jhg.2013.51. Epub 2013 May 30. Review.

PMID:
23719190
11.

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

Demars J, Gicquel C.

Clin Genet. 2012 Apr;81(4):350-61. doi: 10.1111/j.1399-0004.2011.01822.x. Epub 2012 Jan 16. Review.

PMID:
22150955
12.

Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?

Ulker V, Gurkan H, Tozkir H, Karaman V, Ozgur H, Numanoglu C, Gedikbasi A, Akbayir O, Uyguner ZO.

Eur J Obstet Gynecol Reprod Biol. 2013 Sep;170(1):188-92. doi: 10.1016/j.ejogrb.2013.06.028. Epub 2013 Jul 20.

PMID:
23880596
13.

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.

Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C.

J Med Genet. 2006 Dec;43(12):902-7. Epub 2006 Jul 6.

14.

Maternal control of genomic imprint maintenance.

Denomme MM, Mann MR.

Reprod Biomed Online. 2013 Dec;27(6):629-36. doi: 10.1016/j.rbmo.2013.06.004. Epub 2013 Jun 20. Review.

PMID:
24125946
15.

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Parry DA, Logan CV, Hayward BE, Shires M, Landolsi H, Diggle C, Carr I, Rittore C, Touitou I, Philibert L, Fisher RA, Fallahian M, Huntriss JD, Picton HM, Malik S, Taylor GR, Johnson CA, Bonthron DT, Sheridan EG.

Am J Hum Genet. 2011 Sep 9;89(3):451-8. doi: 10.1016/j.ajhg.2011.08.002. Epub 2011 Sep 1.

16.
17.

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.

Andreasen L, Christiansen OB, Niemann I, Bolund L, Sunde L.

Mol Hum Reprod. 2013 Nov;19(11):773-81. doi: 10.1093/molehr/gat056. Epub 2013 Aug 19.

PMID:
23963444
18.

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.

Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Siu V, Rodenhiser D, Schwartz C, Sadikovic B.

J Mol Diagn. 2017 Nov;19(6):848-856. doi: 10.1016/j.jmoldx.2017.07.002. Epub 2017 Aug 12.

PMID:
28807811
19.

Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.

Netchine I, Rossignol S, Azzi S, Brioude F, Le Bouc Y.

Endocr Dev. 2012;23:60-70. doi: 10.1159/000341750. Epub 2012 Nov 23.

PMID:
23182821
20.

[Epigenetics, genomic imprinting and developmental disorders].

Le Bouc Y, Rossignol S, Azzi S, Brioude F, Cabrol S, Gicquel C, Netchine I.

Bull Acad Natl Med. 2010 Feb;194(2):287-97; discussion 297-300. French.

PMID:
21166119

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