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Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE. Sentchordi-Montané L, et al. Among authors: mulero collantes i. Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24. Clin Endocrinol (Oxf). 2018. PMID: 29464738 Free article. Review.
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE. Sentchordi-Montané L, et al. Among authors: mulero collantes i. J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa218. doi: 10.1210/clinem/dgaa218. J Clin Endocrinol Metab. 2020. PMID: 32311039
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Díaz-González F, Modamio-Høybjør S, de la Torre C, Nevado J, Ruiz-Ocaña P, Bezanilla-López C, Prieto P, Bahíllo-Curieses P, Carcavilla A, Mulero-Collantes I, Barreda-Bonis AC, Cruz-Rojo J, Ramírez-Fernández J, Bermúdez de la Vega JA, Travessa AM, González de Buitrago Amigo J, Del Pozo A, Vallespín E, Solís M, Goetz C, Campos-Barros Á, Santos-Simarro F, González-Casado I, Ros-Pérez P, Parrón-Pajares M, Heath KE. Sentchordi-Montané L, et al. Among authors: mulero collantes i. Eur J Endocrinol. 2021 Oct 11;185(5):691-705. doi: 10.1530/EJE-21-0557. Eur J Endocrinol. 2021. PMID: 34516402
Follow-up of infants born to mothers with autoinmune thyroid disease. What should not be screened?
Marín Urueña SI, Infante López ME, Samaniego Fernández CM, Montejo Vicente MM, Escribano García C, Izquierdo Caballero R, Mulero Collantes I, Caserío Carbonero S. Marín Urueña SI, et al. Among authors: mulero collantes i. Endocrinol Diabetes Nutr (Engl Ed). 2020 Mar;67(3):172-178. doi: 10.1016/j.endinu.2019.05.008. Epub 2019 Oct 25. Endocrinol Diabetes Nutr (Engl Ed). 2020. PMID: 31669312 English, Spanish.
Adherence to the RECORD Guidelines in patients with type 1 diabetes aged under 18.
Salamanca-Zarzuela B, Mulero-Collantes I, Morales-Luengo F, Centeno Malfaz F. Salamanca-Zarzuela B, et al. Among authors: mulero collantes i. Endocrinol Diabetes Nutr (Engl Ed). 2020 Oct;67(8):553-556. doi: 10.1016/j.endinu.2019.09.006. Epub 2019 Dec 5. Endocrinol Diabetes Nutr (Engl Ed). 2020. PMID: 31813782 English, Spanish. No abstract available.
[Premature pubarche associated with adrenal mass].
Bahíllo Curieses MP, García Saseta P, Izquierdo Herrero E, García Gutiérrez P, Mulero Collantes I, Sánchez Abuín A. Bahíllo Curieses MP, et al. Among authors: mulero collantes i. An Pediatr (Barc). 2011 Nov;75(5):350-1. doi: 10.1016/j.anpedi.2011.07.019. Epub 2011 Sep 15. An Pediatr (Barc). 2011. PMID: 21924692 Free article. Spanish. No abstract available.