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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Hum Mutat. 2021 Apr;42(4):373-377. doi: 10.1002/humu.24167. Epub 2021 Mar 14.
Hum Mutat. 2021.
PMID: 33492714
Free PMC article.
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A.
Van Heurck R, et al. Among authors: carminho rodrigues mt.
Genes (Basel). 2021 Aug 20;12(8):1277. doi: 10.3390/genes12081277.
Genes (Basel). 2021.
PMID: 34440452
Free PMC article.
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LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A.
Carminho-Rodrigues MT, et al.
BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8.
BMC Med Genet. 2020.
PMID: 32423379
Free PMC article.
Review.
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Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
Carminho-Rodrigues MT, Steel D, Sousa SB, Brandt G, Guipponi M, Laurent S, Fokstuen S, Moren A, Zacharia A, Dirren E, Oliveira R, Kurian MA, Burkhard PR, Bally JF.
Carminho-Rodrigues MT, et al.
Am J Med Genet A. 2020 Sep;182(9):2129-2132. doi: 10.1002/ajmg.a.61731. Epub 2020 Jul 6.
Am J Med Genet A. 2020.
PMID: 32627382
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Immunodeficiency and Lymphoma in Jacobsen Syndrome.
Nigolian H, Nieke JP, Chevallier M, Stathaki E, Sloan-Béna F, Carminho-Rodrigues MT, Jandus P.
Nigolian H, et al. Among authors: carminho rodrigues mt.
J Investig Allergol Clin Immunol. 2022 Oct 11;32(5):408-409. doi: 10.18176/jiaci.0777. Epub 2022 Jan 14.
J Investig Allergol Clin Immunol. 2022.
PMID: 35029149
Free article.
No abstract available.
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YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
Pereira MF, Finazzi V, Rizzuti L, Aprile D, Aiello V, Mollica L, Riva M, Soriani C, Dossena F, Shyti R, Castaldi D, Tenderini E, Carminho-Rodrigues MT, Bally JF, de Vries BBA, Gabriele M, Vitriolo A, Testa G.
Pereira MF, et al. Among authors: carminho rodrigues mt.
bioRxiv [Preprint]. 2024 Feb 17:2024.02.16.580337. doi: 10.1101/2024.02.16.580337.
bioRxiv. 2024.
PMID: 38405909
Free PMC article.
Preprint.
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