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Page 1
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS. Grange LJ, et al. Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8. Nat Commun. 2022. PMID: 36333305 Free PMC article.
Characterizing short stature by insulin-like growth factor axis status and genetic associations: results from the prospective, cross-sectional, epidemiogenetic EPIGROW study.
Clayton P, Bonnemaire M, Dutailly P, Maisonobe P, Naudin L, Pham E, Zhang Z, Grupe A, Thiagalingam A, Denèfle P; EPIGROW Study Group. Clayton P, et al. J Clin Endocrinol Metab. 2013 Jun;98(6):E1122-30. doi: 10.1210/jc.2012-4283. Epub 2013 Apr 17. J Clin Endocrinol Metab. 2013. PMID: 23596138
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group. Domené HM, et al. Horm Res. 2009;72(3):129-41. doi: 10.1159/000232486. Epub 2009 Sep 1. Horm Res. 2009. PMID: 19729943 Review.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Growth and disease burden in children with hypophosphatasia.
Högler W, Linglart A, Petryk A, Kishnani PS, Seefried L, Fang S, Rockman-Greenberg C, Ozono K, Dahir K, Martos-Moreno GÁ. Högler W, et al. Endocr Connect. 2023 Apr 25;12(5):e220240. doi: 10.1530/EC-22-0240. Print 2023 May 1. Endocr Connect. 2023. PMID: 36917043 Free PMC article.
The validity of recommendations from clinical guidelines: a survival analysis.
Martínez García L, Sanabria AJ, García Alvarez E, Trujillo-Martín MM, Etxeandia-Ikobaltzeta I, Kotzeva A, Rigau D, Louro-González A, Barajas-Nava L, Díaz Del Campo P, Estrada MD, Solà I, Gracia J, Salcedo-Fernandez F, Lawson J, Haynes RB, Alonso-Coello P; Updating Guidelines Working Group. Martínez García L, et al. CMAJ. 2014 Nov 4;186(16):1211-9. doi: 10.1503/cmaj.140547. Epub 2014 Sep 8. CMAJ. 2014. PMID: 25200758 Free PMC article.
[Obesity associated metabolic impairment is evident at early ages: Spanish collaborative study].
Martos-Moreno GÁ, Gil-Campos M, Bueno G, Bahillo P, Bernal S, Feliu A, Lechuga-Sancho AM, Palomo E, Ruiz R, Vela A; Grupo de Trabajo de Obesidad de la Sociedad Española de Endocrinología Pediátrica (SEEP). Martos-Moreno GÁ, et al. Nutr Hosp. 2014 Oct 1;30(4):787-93. doi: 10.3305/nh.2014.30.4.7661. Nutr Hosp. 2014. PMID: 25335663 Free article. Spanish.
116 results