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Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.
De Crescenzo A, Sparago A, Cerrato F, Palumbo O, Carella M, Miceli M, Bronshtein M, Riccio A, Yaron Y. De Crescenzo A, et al. Among authors: sparago a. J Med Genet. 2013 Feb;50(2):99-103. doi: 10.1136/jmedgenet-2012-101352. Epub 2012 Dec 14. J Med Genet. 2013. PMID: 23243085 Free PMC article.
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
Sparago A, Verma A, Patricelli MG, Pignata L, Russo S, Calzari L, De Francesco N, Del Prete R, Palumbo O, Carella M, Mackay DJG, Rezwan FI, Angelini C, Cerrato F, Cubellis MV, Riccio A. Sparago A, et al. Clin Epigenetics. 2019 Dec 11;11(1):190. doi: 10.1186/s13148-019-0760-8. Clin Epigenetics. 2019. PMID: 31829238 Free PMC article.
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Cubellis MV, Pignata L, Verma A, Sparago A, Del Prete R, Monticelli M, Calzari L, Antona V, Melis D, Tenconi R, Russo S, Cerrato F, Riccio A. Cubellis MV, et al. Among authors: sparago a. Clin Epigenetics. 2020 Sep 14;12(1):139. doi: 10.1186/s13148-020-00925-2. Clin Epigenetics. 2020. PMID: 32928291 Free PMC article.
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