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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: palau f. 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
[The human genome and medicine].
Palau F, García-Alix A. Palau F, et al. An Pediatr (Engl Ed). 2018 Jul;89(1):1-2. doi: 10.1016/j.anpedi.2018.04.009. Epub 2018 May 10. An Pediatr (Engl Ed). 2018. PMID: 29753559 Free article. Spanish. No abstract available.
Mutation of PACS1: the milder end of the spectrum.
Martinez-Monseny A, Bolasell M, Arjona C, Martorell L, Yubero D, Arsmtrong J, Maynou J, Fernandez G, Del Carmen Salgado M, Palau F, Serrano M. Martinez-Monseny A, et al. Among authors: palau f. Clin Dysmorphol. 2018 Oct;27(4):148-150. doi: 10.1097/MCD.0000000000000237. Clin Dysmorphol. 2018. PMID: 30113927 No abstract available.
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A. Casas-Alba D, et al. Among authors: palau f. Hum Mutat. 2018 Dec;39(12):1752-1763. doi: 10.1002/humu.23638. Epub 2018 Sep 17. Hum Mutat. 2018. PMID: 30176098 Review.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R. Jou C, et al. Among authors: palau f. J Clin Med. 2019 Jan 10;8(1):68. doi: 10.3390/jcm8010068. J Clin Med. 2019. PMID: 30634555 Free PMC article.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Among authors: palau f. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.
Natera-de Benito D, Muchart J, Itzep D, Ortez C, González-Quereda L, Gallano P, Ramirez A, Aparicio J, Domínguez-Carral J, Carrera-García L, Expósito-Escudero J, Pardo Cardozo N, Cuadras D, Codina A, Jou C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento A, San Antonio-Arce V. Natera-de Benito D, et al. Among authors: palau f. Epilepsia. 2020 May;61(5):971-983. doi: 10.1111/epi.16493. Epub 2020 Apr 8. Epilepsia. 2020. PMID: 32266982
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
Natera-de Benito D, Ortez C, Jou C, Jimenez-Mallebrera C, Codina A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell L, Gallano P, Gonzalez-Quereda L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A. Natera-de Benito D, et al. Among authors: palau f. Pediatr Neurol. 2021 Feb;115:50-65. doi: 10.1016/j.pediatrneurol.2020.11.002. Epub 2020 Nov 5. Pediatr Neurol. 2021. PMID: 33333461
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, Carrera-García L, Ortez C, Jou C, Muchart J, Rebollo M, Armstrong J, Colomer J, Garcia-Cazorla À, Hoenicka J, Palau F, Nascimento A. Natera-de Benito D, et al. Among authors: palau f. Pediatr Neurol. 2021 Jun;119:40-44. doi: 10.1016/j.pediatrneurol.2021.03.005. Epub 2021 Mar 26. Pediatr Neurol. 2021. PMID: 33894639
201 results