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Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: navarro j. Genet Med. 2024 Jun;26(6):101081. doi: 10.1016/j.gim.2024.101081. Epub 2024 Jan 28. Genet Med. 2024. PMID: 38293907 Free article.
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, Place EM, Antonio A, Mukai S, Zanlonghi X, Sahel JA, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: navarro j. Res Sq [Preprint]. 2024 Feb 9:rs.3.rs-3871956. doi: 10.21203/rs.3.rs-3871956/v1. Res Sq. 2024. Update in: NPJ Genom Med. 2024 Nov 8;9(1):58. doi: 10.1038/s41525-024-00439-3 PMID: 38405922 Free PMC article. Updated. Preprint.
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, Place EM, Antonio A, Mukai S, Zanlonghi X, Sahel JA, DiTroia S, O'Heir E, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: navarro j. NPJ Genom Med. 2024 Nov 8;9(1):58. doi: 10.1038/s41525-024-00439-3. NPJ Genom Med. 2024. PMID: 39516462 Free PMC article.
The Value of Bone Marrow Assessment by FDG PET/CT, Biopsy and Aspirate in the Upfront Evaluation of Mantle Cell Lymphoma: A Nationwide Cohort Study.
Ródenas Quiñonero I, Marco-Ayala J, Chen-Liang TH, de la Cruz-Vicente F, Baumann T, Navarro JT, Martín García-Sancho A, Martin-Santos T, López-Jiménez J, Andreu R, Parra E, Usas A, Alonso D, Fernández-González M, Palomo Rumschisky P, Frutos L, Navarro JL, Alvarez-Perez RM, Sarandeses P, Cortes M, Tamayo P, Uña J, Martínez-Lorca A, Ruiz C, Lozano ML, Ortuño FJ. Ródenas Quiñonero I, et al. Among authors: navarro jl, navarro jt. Cancers (Basel). 2024 Dec 16;16(24):4189. doi: 10.3390/cancers16244189. Cancers (Basel). 2024. PMID: 39766089 Free PMC article.
3,034 results