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Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ Genom Med. 2021 Jun 29;6(1):53. doi: 10.1038/s41525-021-00214-8.
NPJ Genom Med. 2021.
PMID: 34188062
Free PMC article.
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Peter VG, Quinodoz M, Sadio S, Held S, Rodrigues M, Soares M, Sousa AB, Coutinho Santos L, Damme M, Rivolta C.
Peter VG, et al. Among authors: coutinho santos l.
Hum Mutat. 2021 Mar;42(3):261-271. doi: 10.1002/humu.24150. Epub 2020 Dec 25.
Hum Mutat. 2021.
PMID: 33300174
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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
Moye AR, Bedoni N, Cunningham JG, Sanzhaeva U, Tucker ES, Mathers P, Peter VG, Quinodoz M, Paris LP, Coutinho-Santos L, Camacho P, Purcell MG, Winkelmann AC, Foster JA, Pugacheva EN, Rivolta C, Ramamurthy V.
Moye AR, et al. Among authors: coutinho santos l.
PLoS Genet. 2019 Aug 19;15(8):e1008315. doi: 10.1371/journal.pgen.1008315. eCollection 2019 Aug.
PLoS Genet. 2019.
PMID: 31425546
Free PMC article.
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AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Quinodoz M, Peter VG, Bedoni N, Royer Bertrand B, Cisarova K, Salmaninejad A, Sepahi N, Rodrigues R, Piran M, Mojarrad M, Pasdar A, Ghanbari Asad A, Sousa AB, Coutinho Santos L, Superti-Furga A, Rivolta C.
Quinodoz M, et al. Among authors: coutinho santos l.
Nat Commun. 2021 Jan 22;12(1):518. doi: 10.1038/s41467-020-20584-4.
Nat Commun. 2021.
PMID: 33483490
Free PMC article.
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Anisometropia and asymmetric ABCA4-related cone-rod dystrophy.
Santos C, Almeida A, Pinto R, Kaminska K, Peter VG, Sousa AB, Rivolta C, Coutinho-Santos L.
Santos C, et al. Among authors: coutinho santos l.
Ophthalmic Genet. 2022 Aug;43(4):576-580. doi: 10.1080/13816810.2022.2103834. Epub 2022 Jul 28.
Ophthalmic Genet. 2022.
PMID: 35903041
No abstract available.
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The socioeconomic epidemiology of inherited retinal diseases in Portugal.
Marta A, Marques JP, Santos C, Coutinho-Santos L, Vaz-Pereira S, Costa J, Arede P, Félix R, Geada S, Gouveia N, Silva R, Baptista M, Lume M, Parreira R, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J.
Marta A, et al. Among authors: coutinho santos l.
Orphanet J Rare Dis. 2024 Apr 9;19(1):151. doi: 10.1186/s13023-024-03161-6.
Orphanet J Rare Dis. 2024.
PMID: 38594754
Free PMC article.
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The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, Pescini Gobert R, Rodrigues R, Custódio S, Paris LP, Sousa AB, Coutinho Santos L, Rivolta C.
Peter VG, et al. Among authors: coutinho santos l.
PNAS Nexus. 2023 Feb 13;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043. eCollection 2023 Mar.
PNAS Nexus. 2023.
PMID: 36909829
Free PMC article.
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