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Page 1
Identification of copy-number variants in patients with overgrowth disorders.
Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre JL, Armengod CG, Bialer MG, Mathieu M, Cousin J, Chitayat D, Liebelt J, Feldman B, Gérard-Blanluet M, Körtge-Jung S, King C, Laivuori H, Le Merrer M, Mehta S, Jern C, Sharif S, Prieur F, Gillessen-Kaesbach G, Zankl A, Mornet E. Simon-Bouy B, et al. Among authors: armengod cg. Prenat Diagn. 2008 Nov;28(11):993-8. doi: 10.1002/pd.2088. Prenat Diagn. 2008. PMID: 18925618
Five-minute Apgar score and outcomes in neonates of 24-28 weeks' gestation.
Shah PS, Norman M, Rusconi F, Kusuda S, Reichman B, Battin M, Bassler D, Modi N, Hakansson S, Yang J, Lee SK, Helenius K, Vento M, Lehtonen L, Adams M, Isayama T, Lui K, Gagliardi L; International Network for Evaluating Outcomes of Neonates (iNeo) Investigators. Shah PS, et al. Arch Dis Child Fetal Neonatal Ed. 2022 Jul;107(4):437-446. doi: 10.1136/archdischild-2021-322230. Epub 2021 Nov 15. Arch Dis Child Fetal Neonatal Ed. 2022. PMID: 34782368
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
Temporal trends in respiratory care and bronchopulmonary dysplasia in very preterm infants over a 10-year period in Spain.
Avila-Alvarez A, Zozaya C, Pértega-Diaz S, Sanchez-Luna M, Iriondo-Sanz M, Elorza MD, García-Muñoz Rodrigo F; Spanish Neonatal Network SEN1500. Avila-Alvarez A, et al. Arch Dis Child Fetal Neonatal Ed. 2022 Mar;107(2):143-149. doi: 10.1136/archdischild-2021-322402. Epub 2021 Jul 28. Arch Dis Child Fetal Neonatal Ed. 2022. PMID: 34321246
Variations in Neonatal Length of Stay of Babies Born Extremely Preterm: An International Comparison Between iNeo Networks.
Seaton SE, Draper ES, Adams M, Kusuda S, Håkansson S, Helenius K, Reichman B, Lehtonen L, Bassler D, Lee SK, Vento M, Darlow BA, Rusconi F, Beltempo M, Isayama T, Lui K, Norman M, Yang J, Shah PS, Modi N; UK Neonatal Collaborative; International Network for Evaluating Outcomes of Neonates (iNeo) Investigators; ANZNN (Australian and New Zealand Neonatal Network); CNN (Canadian Neonatal Network); NRNJ (Neonatal Research Network Japan); SEN1500 (Spanish Neonatal Network); SwissNeoNet (Swiss Neonatal Network). Seaton SE, et al. J Pediatr. 2021 Jun;233:26-32.e6. doi: 10.1016/j.jpeds.2021.02.015. Epub 2021 Feb 15. J Pediatr. 2021. PMID: 33600820
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.
Preventive strategies and factors associated with surgically treated necrotising enterocolitis in extremely preterm infants: an international unit survey linked with retrospective cohort data analysis.
Adams M, Bassler D, Darlow BA, Lui K, Reichman B, Hakansson S, Norman M, Lee SK, Helenius KK, Lehtonen L, San Feliciano L, Vento M, Moroni M, Beltempo M, Yang J, Shah PS; International Network for EvaluatingOutcomes (iNeo) of Neonates. Adams M, et al. BMJ Open. 2019 Oct 14;9(10):e031086. doi: 10.1136/bmjopen-2019-031086. BMJ Open. 2019. PMID: 31615799 Free PMC article.