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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T. Mackay D, et al. Among authors: de nanclares gp. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. Clin Epigenetics. 2022. PMID: 36345041 Free PMC article.
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, Werner R; EuroPHP Consortium. Garin I, et al. Eur J Hum Genet. 2015 Apr;23(4):438-44. doi: 10.1038/ejhg.2014.127. Epub 2014 Jul 9. Eur J Hum Genet. 2015. PMID: 25005735 Free PMC article.
Multilocus methylation defects in imprinting disorders.
Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP. Mackay DJ, et al. Among authors: de nanclares gp. Biomol Concepts. 2015 Mar;6(1):47-57. doi: 10.1515/bmc-2014-0037. Biomol Concepts. 2015. PMID: 25581766 Free article. Review.
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
Garin I, Elli FM, Linglart A, Silve C, de Sanctis L, Bordogna P, Pereda A, Clarke JT, Kannengiesser C, Coutant R, Tenebaum-Rakover Y, Admoni O, de Nanclares GP, Mantovani G. Garin I, et al. Among authors: de nanclares gp, de sanctis l. J Clin Endocrinol Metab. 2015 Apr;100(4):E681-7. doi: 10.1210/jc.2014-3098. Epub 2015 Jan 16. J Clin Endocrinol Metab. 2015. PMID: 25594858 Free article.
Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.
Eggermann T, de Nanclares GP, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I. Eggermann T, et al. Among authors: de nanclares gp. Clin Epigenetics. 2016 Mar 7;8:27. doi: 10.1186/s13148-016-0194-5. eCollection 2016. Clin Epigenetics. 2016. PMID: 26958095 Free PMC article.
Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction.
Monteagudo-Sánchez A, Sánchez-Delgado M, Mora JRH, Santamaría NT, Gratacós E, Esteller M, de Heredia ML, Nunes V, Choux C, Fauque P, de Nanclares GP, Anton L, Elovitz MA, Iglesias-Platas I, Monk D. Monteagudo-Sánchez A, et al. Among authors: de nanclares gp, de heredia ml. Clin Epigenetics. 2019 Feb 26;11(1):35. doi: 10.1186/s13148-019-0630-4. Clin Epigenetics. 2019. PMID: 30808399 Free PMC article.
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances.
Monteagudo-Sánchez A, Hernandez Mora JR, Simon C, Burton A, Tenorio J, Lapunzina P, Clark S, Esteller M, Kelsey G, López-Siguero JP, de Nanclares GP, Torres-Padilla ME, Monk D. Monteagudo-Sánchez A, et al. Among authors: de nanclares gp. Nucleic Acids Res. 2020 Nov 18;48(20):11394-11407. doi: 10.1093/nar/gkaa837. Nucleic Acids Res. 2020. PMID: 33053156 Free PMC article.
42 results