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Page 1
Okur-Chung neurodevelopmental syndrome in a patient from Spain.
Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Martorell L, Palau F, García-Alix A, Serrano M. Martinez-Monseny AF, et al. Among authors: casano p. Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729156
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Bone Morphogenetic Protein-8B Levels at Birth and in the First Year of Life: Relation to Metabolic-Endocrine Variables and Brown Adipose Tissue Activity.
Garcia-Beltran C, Villarroya J, Plou C, Gavaldà-Navarro A, Casano P, Cereijo R, de Zegher F, López-Bermejo A, Ibáñez L, Villarroya F. Garcia-Beltran C, et al. Among authors: casano p. Front Pediatr. 2022 Mar 24;10:869581. doi: 10.3389/fped.2022.869581. eCollection 2022. Front Pediatr. 2022. PMID: 35402348 Free PMC article.
Effects of half-dose spiomet treatment in girls with early puberty and accelerated bone maturation: a multicenter, randomized, placebo-controlled study protocol.
Bassols J, de Zegher F, Diaz M, Carreras-Badosa G, Garcia-Beltran C, Puerto-Carranza E, Oliver-Vila C, Casano P, Franco CA, Malpique R, López-Bermejo A, Ibáñez L. Bassols J, et al. Among authors: casano p. Trials. 2023 Jan 24;24(1):56. doi: 10.1186/s13063-022-07050-w. Trials. 2023. PMID: 36694227 Free PMC article.
Correction: Effects of half-dose spiomet treatment in girls with early puberty and accelerated bone maturation: a multicenter, randomized, placebo-controlled study protocol.
Bassols J, de Zegher F, Diaz M, Carreras-Badosa G, Garcia-Beltran C, Puerto-Carranza E, Oliver-Vila C, Casano P, Franco CA, Malpique R, Lopez-Bermejo A, Ibanez L. Bassols J, et al. Among authors: casano p. Trials. 2023 Oct 3;24(1):630. doi: 10.1186/s13063-023-07483-x. Trials. 2023. PMID: 37789343 Free PMC article. No abstract available.
[Thyroid carcinoma in pediatrics: a 30-year follow-up].
Cáceres F, Vancells M, Cruz O, Casano P, Laguna A, Pérez N, Montaner A, Lerena J, Morales L, Ribó JM. Cáceres F, et al. Among authors: casano p. Cir Pediatr. 2010 Oct;23(4):229-35. Cir Pediatr. 2010. PMID: 21520556 Spanish.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
15 results