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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F. Pignata L, et al. Among authors: pereda a. Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w. Clin Epigenetics. 2022. PMID: 35643636 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.
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: pereda a. 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.
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, Elli FM, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, de Nanclares GP, Linglart A. Thiele S, et al. Among authors: pereda a. Eur J Endocrinol. 2016 Dec;175(6):P1-P17. doi: 10.1530/EJE-16-0107. Epub 2016 Jul 11. Eur J Endocrinol. 2016. PMID: 27401862 Free article. Review.
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Mantovani G, et al. Among authors: pereda a. Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Nat Rev Endocrinol. 2018. PMID: 29959430 Free PMC article. Review.
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z. Eggermann T, et al. Among authors: pereda a. Clin Epigenetics. 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. Clin Epigenetics. 2022. PMID: 35296332 Free PMC article.
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: pereda a. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. Clin Epigenetics. 2022. PMID: 36345041 Free PMC article.
193 results