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Year | Number of Results |
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2013 | 1 |
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Page 1
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13.
HGG Adv. 2023.
PMID: 37009414
Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L.
Denommé-Pichon AS, et al.
Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20.
Genet Med. 2023.
PMID: 36681873
Free article.
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Genetic analysis in retinoblastoma and peripheral blood correlation.
Ruiz del Río N, Abelairas Gómez JM, Alonso García de la Rosa FJ, Peralta Calvo JM, de las Heras Martín A.
Ruiz del Río N, et al. Among authors: alonso garcia de la rosa fj.
Arch Soc Esp Oftalmol. 2015 Dec;90(12):562-5. doi: 10.1016/j.oftal.2015.02.014. Epub 2015 Aug 14.
Arch Soc Esp Oftalmol. 2015.
PMID: 26279484
English, Spanish.
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DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations.
Bardón-Cancho EJ, Haro-Díaz A, Alonso-García-de la Rosa FJ, Huerta-Aragonés J, García-Morín M, González-Martínez F, Garrido-Colino C.
Bardón-Cancho EJ, et al. Among authors: alonso garcia de la rosa fj.
Fam Cancer. 2017 Apr;16(2):291-294. doi: 10.1007/s10689-016-9949-6.
Fam Cancer. 2017.
PMID: 27830405
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[Genetic analysis results of patients with a retinoblastoma refractory to systemic chemotherapy].
Ruiz del Río N, Abelairas Gómez JM, Alonso García de la Rosa FJ, Peralta Calvo JM, de las Heras Martín A.
Ruiz del Río N, et al. Among authors: alonso garcia de la rosa fj.
Arch Soc Esp Oftalmol. 2015 Sep;90(9):414-20. doi: 10.1016/j.oftal.2015.02.011. Epub 2015 Mar 25.
Arch Soc Esp Oftalmol. 2015.
PMID: 25817468
Spanish.
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[Trilateral retinoblastoma. Correlation between the genetic anomalies of the RB1 gene and the presence of pineal gland cysts].
Ruiz Del Río N, Abelairas Gómez JM, Alonso García de la Rosa FJ, Peralta Calvo JM, de Las Heras Martín A.
Ruiz Del Río N, et al. Among authors: alonso garcia de la rosa fj.
Arch Soc Esp Oftalmol. 2014 Jan;89(1):4-9. doi: 10.1016/j.oftal.2013.07.006. Epub 2013 Oct 5.
Arch Soc Esp Oftalmol. 2014.
PMID: 24269417
Spanish.
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