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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 4
2004 2
2006 4
2007 5
2008 4
2009 3
2010 7
2011 4
2012 5
2013 7
2014 5
2015 7
2016 8
2017 7
2018 13
2019 7
2020 8
2021 7
2022 11
2023 11
2024 4

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115 results

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Page 1
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: perez de nanclares g. 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.
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.
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, 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: perez de nanclares g. Horm Res Paediatr. 2020;93(3):182-196. doi: 10.1159/000508985. Epub 2020 Aug 5. Horm Res Paediatr. 2020. PMID: 32756064 Free PMC article. Review.
Congenital cutaneous ossification.
Gomes TF, Kieselová K, Santiago F, Cardoso JC, Cunha F, Sousa SB, Perez de Nanclares G. Gomes TF, et al. Among authors: perez de nanclares g. J Paediatr Child Health. 2022 Jul;58(7):1262-1264. doi: 10.1111/jpc.15814. Epub 2021 Oct 27. J Paediatr Child Health. 2022. PMID: 34706128 No abstract available.
Impaired proteostasis in rare neurological diseases.
Osinalde N, Duarri A, Ramirez J, Barrio R, Perez de Nanclares G, Mayor U. Osinalde N, et al. Among authors: perez de nanclares g. Semin Cell Dev Biol. 2019 Sep;93:164-177. doi: 10.1016/j.semcdb.2018.10.007. Epub 2018 Nov 3. Semin Cell Dev Biol. 2019. PMID: 30355526 Review.
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.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: perez de nanclares g. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 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.
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.
Nutrition recommendations for patients with pseudohypoparathyroidism.
Miñones-Suarez L, Pérez de Nanclares G, Marín-Del Barrio S, Alcázar Villar MJ, de Sotto-Esteban D, Mogas E, Rey Cordo L, Riaño-Galán I, Lumbreras Fernández J, Leis R; en representación del Grupo de Trabajo de Metabolismo Calcio-Fósforo de la Sociedad Española de Endocrinología Pediátrica; de la Sociedad Española de Nefrología Pediátrica y del Comité de Nutrición y Lactancia Materna de la AEP. Miñones-Suarez L, et al. Among authors: perez de nanclares g. An Pediatr (Engl Ed). 2023 Aug;99(2):129-135. doi: 10.1016/j.anpede.2023.05.007. Epub 2023 Jul 21. An Pediatr (Engl Ed). 2023. PMID: 37481364 Free article.
115 results