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Page 1
Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.
Carmona-Hidalgo B, Herrera-Ramos E, Rodríguez-López R, Nou-Fontanet L, C Moreno J, Blasco-Amaro JA, Léger J, Ortigoza-Escobar JD; NKX2-1-Related Disorders Guideline Working Group. Carmona-Hidalgo B, et al. Among authors: ortigoza escobar jd. PLoS One. 2024 Oct 28;19(10):e0309064. doi: 10.1371/journal.pone.0309064. eCollection 2024. PLoS One. 2024. PMID: 39466809 Free PMC article.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Amato ME, Balsells S, Martorell L, Alcalá San Martín A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS, Ortigoza-Escobar JD. Amato ME, et al. Among authors: ortigoza escobar jd. Eur J Paediatr Neurol. 2024 Oct 9;53:63-72. doi: 10.1016/j.ejpn.2024.10.005. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 39413657
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
Rodriguez-Gonzalez H, Ormazabal A, Casado M, Arias AY, Oliva C, Barranco-Altirriba M, Casadevall R, García-Cuyas F, Nascimento A, Ortez C, Natera-de Benito D, Armangué T, O'Callaghan MM, Juliá-Palacios N, Darling A, Ortigoza-Escobar JD, Fons C, García-Cazorla A, Perera-Lluna A, Artuch R. Rodriguez-Gonzalez H, et al. Among authors: ortigoza escobar jd. Clin Chem. 2024 Sep 27:hvae139. doi: 10.1093/clinchem/hvae139. Online ahead of print. Clin Chem. 2024. PMID: 39331696
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Visser… See abstract for full author list ➔ Rots D, et al. Among authors: ortigoza escobar jd. Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013459
Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.
Amato ME, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, Freilinger M, Grosso S, Hadzsiev K, Moroni I, Nardocci N, Neubauer D, Nicita F, Pagliano E, Siegert S, Soler D, van de Pol LA, Vasco G, Vidailhet M, Willemsen MA, Zibordi F, Zorzi G, Zumrova A, Reinhard C, Sevin C, Wolf N, Rodriguez-Blazquez C, Sival DA, Ortigoza-Escobar JD; Pediatric issues working group of the European Reference Network for Rare Neurological Diseases (ERN-RND). Amato ME, et al. Among authors: ortigoza escobar jd. Eur J Paediatr Neurol. 2024 Sep;52:10-19. doi: 10.1016/j.ejpn.2024.06.011. Epub 2024 Jun 29. Eur J Paediatr Neurol. 2024. PMID: 38970889
Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.
Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C; Chorea & Huntington Disease Group ERN-RND; Ortigoza-Escobar JD. Nou-Fontanet L, et al. Among authors: ortigoza escobar jd. Eur J Paediatr Neurol. 2024 Jul;51:110-117. doi: 10.1016/j.ejpn.2024.06.007. Epub 2024 Jun 19. Eur J Paediatr Neurol. 2024. PMID: 38917695
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.
Domínguez Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L, Ortigoza-Escobar JD. Domínguez Carral J, et al. Among authors: ortigoza escobar jd. Front Neurol. 2024 Jun 6;15:1403815. doi: 10.3389/fneur.2024.1403815. eCollection 2024. Front Neurol. 2024. PMID: 38903163 Free PMC article.
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H, Maroofian R. Ortigoza-Escobar JD, et al. Mov Disord. 2024 Sep;39(9):1624-1630. doi: 10.1002/mds.29883. Epub 2024 Jun 20. Mov Disord. 2024. PMID: 38899514
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain. Lasa-Aranzasti A, et al. Among authors: ortigoza escobar jd. Mov Disord. 2024 Sep;39(9):1578-1591. doi: 10.1002/mds.29881. Epub 2024 Jun 16. Mov Disord. 2024. PMID: 38881224
72 results