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Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A, Madariaga L, Gómez-Conde S, Cordo CLR, López-Iglesias M, Garcia-Fernández Y, Martín A, González P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martínez R, Saso L, Urrutia I, Velasco O, Castaño L, Gaztambide S. García-Castaño A, et al. Among authors: de nanclares gp. Sci Rep. 2021 Feb 3;11(1):2968. doi: 10.1038/s41598-021-82661-y. Sci Rep. 2021. PMID: 33536578 Free PMC article.
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, Castaño L, Ariceta G; RenalTube Group. García Castaño A, et al. PLoS One. 2013 Sep 18;8(9):e74673. doi: 10.1371/journal.pone.0074673. eCollection 2013. PLoS One. 2013. PMID: 24058621 Free PMC article.
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A, Madariaga L, Gómez-Conde S, González P, Grau G, Rica I, de Nanclares GP, De la Hoz AB, Aguayo A, Martínez R, Urrutia I, Gaztambide S; Calcium Phosphorus Metabolism Molecular Biology Group; Castaño L. García-Castaño A, et al. Among authors: de nanclares gp. Front Endocrinol (Lausanne). 2024 Mar 22;15:1297614. doi: 10.3389/fendo.2024.1297614. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38586466 Free PMC article.
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.
Ertl DA, de Nanclares GP, Jüppner H, Hanna P, Pagnano A, Pereda A, Rothenbuhler A, Del Sindaco G, Ruiz-Cuevas P, Audrain C, Escribano A, Berkenou J, Gleiss A, Mantovani G, Linglart A. Ertl DA, et al. Among authors: de nanclares gp. Eur J Endocrinol. 2023 Jul 20;189(1):123-131. doi: 10.1093/ejendo/lvad085. Eur J Endocrinol. 2023. PMID: 37440712 Free PMC article.
Imprinting disorders.
Eggermann T, Monk D, de Nanclares GP, Kagami M, Giabicani E, Riccio A, Tümer Z, Kalish JM, Tauber M, Duis J, Weksberg R, Maher ER, Begemann M, Elbracht M. Eggermann T, et al. Among authors: de nanclares gp. Nat Rev Dis Primers. 2023 Jun 29;9(1):33. doi: 10.1038/s41572-023-00443-4. Nat Rev Dis Primers. 2023. PMID: 37386011 Review.
Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.
Ertl DA, Mantovani G, de Nanclares GP, Elli FM, Pereda A, Pagnano A, Sanchis A, Cueto-Gonzalez AM, Berrade S, León MC, Rothenbuhler A, Audrain C, Berkenou J, Knight N, Dolman K, Gleiss A, Argente J, Linglart A. Ertl DA, et al. Among authors: de nanclares gp. J Endocrinol Invest. 2023 Aug;46(8):1673-1684. doi: 10.1007/s40618-023-02026-2. Epub 2023 Feb 7. J Endocrinol Invest. 2023. PMID: 36749450
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.
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: de nanclares gp. Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w. Clin Epigenetics. 2022. PMID: 35643636 Free PMC article.
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: de nanclares gp. Clin Epigenetics. 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. Clin Epigenetics. 2022. PMID: 35296332 Free PMC article.
41 results