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Page 1
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.
Martínez-Matilla M, Ferre-Fernández JJ, Aparisi MJ, Marco-Hernández AV, Cerón JA, Crow YJ, Martínez-Castellano F, Tomás-Vila M, Pedrola L. Martínez-Matilla M, et al. Among authors: martinez castellano f. Pediatr Neurol. 2020 Nov;112:53-55. doi: 10.1016/j.pediatrneurol.2020.07.011. Epub 2020 Jul 25. Pediatr Neurol. 2020. PMID: 32911264 No abstract available.
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia.
Moreno Macián F, De Mingo Alemany C, León Cariñena S, Ortega López P, Rausell Felix D, Aparisi Navarro M, Martinez Matilla M, Cardona Gay C, Martinez Castellano F, Albiach Mesado V. Moreno Macián F, et al. Among authors: martinez castellano f. J Pediatr Endocrinol Metab. 2020 Aug 25;33(10):1283-1288. doi: 10.1515/jpem-2020-0168. J Pediatr Endocrinol Metab. 2020. PMID: 32841164
[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era].
Ballesteros-Cogollos V, Morell-García M, Aleu Pérez-Gramunt M, Montesinos-Sanchís E, Mirón-Mombiela R, Martínez-Martínez JC, Tomás-Vila M, Martínez-Castellano F. Ballesteros-Cogollos V, et al. Among authors: martinez castellano f. Rev Neurol. 2020 Nov 16;71(10):373-376. doi: 10.33588/rn.7110.2020520. Rev Neurol. 2020. PMID: 33145748 Free article. Spanish.
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Marco-Hernández AV, Tomás-Vila M, Montoya-Filardi A, Barranco-González H, Vilchez Padilla JJ, Azorín I, Smeyers Dura P, Monfort-Membrado S, Pitarch-Castellano I, Martínez-Castellano F. Marco-Hernández AV, et al. Among authors: martinez castellano f. Clin Genet. 2022 Feb;101(2):233-241. doi: 10.1111/cge.14093. Epub 2021 Dec 5. Clin Genet. 2022. PMID: 34842280
[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation].
Sanz-Ruiz I, Bretón-Martínez JR, Del Castillo-Villaescusa C, Cásanovas-Martínez A, Martínez-Castellano F, Millán-Salvador JM, Hernández-Marco R, Codoñer-Franch P. Sanz-Ruiz I, et al. Among authors: martinez castellano f. Rev Neurol. 2009 Nov 1-15;49(9):472-4. Rev Neurol. 2009. PMID: 19859888 Free article. Spanish.
[Non-specific X-linked mental retardation].
Martínez-Castellano F. Martínez-Castellano F. Rev Neurol. 2006 Jan 7;42 Suppl 1:S77-83. Rev Neurol. 2006. PMID: 16506138 Free article. Review. Spanish.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C. Gerber CB, et al. Among authors: martinez castellano f. Clin Genet. 2022 Sep;102(3):182-190. doi: 10.1111/cge.14173. Epub 2022 Jun 14. Clin Genet. 2022. PMID: 35662002 Free PMC article.
15 results