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Page 1
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, Pouliet A, Nitschké P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V. Coolen M, et al. Among authors: moreno n. Am J Hum Genet. 2022 May 5;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6. Am J Hum Genet. 2022. PMID: 35390279 Free PMC article.
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.
Seselgyte R, Bryant D, Demetriou C, Ishida M, Peskett E, Moreno N, Morrogh D, Sell D, Lees M, Farrall M, Moore GE, Sommerlad B, Pauws E, Stanier P. Seselgyte R, et al. Among authors: moreno n. J Dent Res. 2019 Jun;98(6):659-665. doi: 10.1177/0022034519837245. Epub 2019 Mar 27. J Dent Res. 2019. PMID: 30917284 Free PMC article.
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
McGlacken-Byrne SM, Del Valle I, Quesne Stabej PL, Bellutti L, Garcia-Alonso L, Ocaka LA, Ishida M, Suntharalingham JP, Gagunashvili A, Ogunbiyi OK, Mistry T, Buonocore F; GOSgene; Crespo B, Moreno N, Niola P, Brooks T, Brain CE, Dattani MT, Kelberman D, Vento-Tormo R, Lagos CF, Livera G, Conway GS, Achermann JC. McGlacken-Byrne SM, et al. Among authors: moreno n. JCI Insight. 2022 Mar 8;7(5):e154671. doi: 10.1172/jci.insight.154671. JCI Insight. 2022. PMID: 35138268 Free PMC article.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
McGlacken-Byrne SM, Le Quesne Stabej P, Del Valle I, Ocaka L, Gagunashvili A, Crespo B, Moreno N, James C, Bacchelli C, Dattani MT, Williams HJ, Kelberman D, Achermann JC, Conway GS. McGlacken-Byrne SM, et al. Among authors: moreno n. J Clin Endocrinol Metab. 2022 Jan 1;107(1):e254-e263. doi: 10.1210/clinem/dgab597. J Clin Endocrinol Metab. 2022. PMID: 34402903 Free PMC article.
An integrated single-cell analysis of human adrenal cortex development.
Del Valle I, Young MD, Kildisiute G, Ogunbiyi OK, Buonocore F, Simcock IC, Khabirova E, Crespo B, Moreno N, Brooks T, Niola P, Swarbrick K, Suntharalingham JP, McGlacken-Byrne SM, Arthurs OJ, Behjati S, Achermann JC. Del Valle I, et al. Among authors: moreno n. JCI Insight. 2023 Jul 24;8(14):e168177. doi: 10.1172/jci.insight.168177. JCI Insight. 2023. PMID: 37440461 Free PMC article.
Visualization of macrophage subsets in the development of the fetal human inner ear.
Steinacher C, Chacko LJ, Liu W, Rask-Andersen H, Bader W, Dudas J, Sergi CM, Dhanaseelan T, Moreno N, Glueckert R, Hoermann R, Schrott-Fischer A. Steinacher C, et al. Among authors: moreno n. Front Immunol. 2022 Sep 9;13:965196. doi: 10.3389/fimmu.2022.965196. eCollection 2022. Front Immunol. 2022. PMID: 36159857 Free PMC article.
Leishmaniasis in Patients With Inflammatory Bowel Disease: A National Multicenter Study of GETECCU.
Madero-Velázquez L, Mínguez A, Mayorga L, Ramírez JJ, Moreno N, Amorós C, Nieto MA, Mena R, Benítez JM, Gimeno-Pitarch L, Maroto N, Suria C, Rodríguez-Moranta F, Ordás I, Ruiz L, García-Brenes MA, Martín-Cardona A, de Célix CR, Cárdenas K, Ginard D, Medina L, Pedrero N, Plaza R, Salmoral R, Martínez-Pérez TJ, Algara V, Merino E, Zabana Y, Gutiérrez A; Young Group of GETECCU. Madero-Velázquez L, et al. Among authors: moreno n. United European Gastroenterol J. 2025 Jan 8. doi: 10.1002/ueg2.12740. Online ahead of print. United European Gastroenterol J. 2025. PMID: 39776301 Free article.
Nose-to-Brain Delivery of Biomimetic Nanoparticles for Glioblastoma Targeted Therapy.
Ferreira NN, Leite CM, Moreno NS, Miranda RR, Pincela Lins PM, Rodero CF, de Oliveira Junior E, Lima EM, Reis RM, Zucolotto V. Ferreira NN, et al. Among authors: moreno ns. ACS Appl Mater Interfaces. 2025 Jan 8;17(1):484-499. doi: 10.1021/acsami.4c16837. Epub 2024 Dec 18. ACS Appl Mater Interfaces. 2025. PMID: 39692595
Advancements in organic fluorescent materials: unveiling the potential of peripheral group modification in dithienyl-diketopyrrolopyrrole derivatives for one- and two-photon bioimaging.
Zucolotto Cocca LH, Valverde JVP, Leite CM, Moreno NS, Neto AL, Macedo AG, Pratavieira S, Silva DL, Rodrigues PC, Zucolotto V, Mendonça CR, De Boni L. Zucolotto Cocca LH, et al. Among authors: moreno ns. J Mater Chem B. 2024 Dec 4. doi: 10.1039/d4tb02291b. Online ahead of print. J Mater Chem B. 2024. PMID: 39629620
501 results