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Year Number of Results
2014 11
2015 4
2016 9
2017 2
2018 1
2020 1
2021 8
2022 9
2023 4
2024 1

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48 results

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Page 1
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Tassone F, et al. Among authors: lozano r. Cells. 2023 Sep 21;12(18):2330. doi: 10.3390/cells12182330. Cells. 2023. PMID: 37759552 Free PMC article. Review.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: lozano r. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Fragile X spectrum disorders.
Lozano R, Rosero CA, Hagerman RJ. Lozano R, et al. Intractable Rare Dis Res. 2014 Nov;3(4):134-46. doi: 10.5582/irdr.2014.01022. Intractable Rare Dis Res. 2014. PMID: 25606363 Free PMC article. Review.
Fragile X syndrome: A review of clinical management.
Lozano R, Azarang A, Wilaisakditipakorn T, Hagerman RJ. Lozano R, et al. Intractable Rare Dis Res. 2016 Aug;5(3):145-57. doi: 10.5582/irdr.2016.01048. Intractable Rare Dis Res. 2016. PMID: 27672537 Free PMC article. Review.
Prospective investigation of FOXP1 syndrome.
Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JD. Siper PM, et al. Among authors: lozano r. Mol Autism. 2017 Oct 24;8:57. doi: 10.1186/s13229-017-0172-6. eCollection 2017. Mol Autism. 2017. PMID: 29090079 Free PMC article.
Gait Abnormalities in Children with Phelan-McDermid Syndrome.
Frank Y, Levy T, Lozano R, Friedman K, Underwood S, Kostic A, Walker H, Kolevzon A. Frank Y, et al. Among authors: lozano r. J Child Neurol. 2023 Dec;38(13-14):665-671. doi: 10.1177/08830738231204395. Epub 2023 Oct 18. J Child Neurol. 2023. PMID: 37849292
48 results