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Page 1
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors. Matalonga L, et al. J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30. J Mol Diagn. 2020. PMID: 32619640 Free PMC article.
Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.
Kastrinos F, Ojha RP, Leenen C, Alvero C, Mercado RC, Balmaña J, Valenzuela I, Balaguer F, Green R, Lindor NM, Thibodeau SN, Newcomb P, Win AK, Jenkins M, Buchanan DD, Bertario L, Sala P, Hampel H, Syngal S, Steyerberg EW; Lynch Syndrome prediction model validation study group. Kastrinos F, et al. Among authors: valenzuela i. J Natl Cancer Inst. 2015 Nov 18;108(2):djv308. doi: 10.1093/jnci/djv308. Print 2016 Feb. J Natl Cancer Inst. 2015. PMID: 26582061 Free PMC article.
Nonsyndromic familial aortic disease: an underdiagnosed entity.
Teixidó-Turà G, Valenzuela I, Gutiérrez L, Borregan M, del Campo M, Evangelista A. Teixidó-Turà G, et al. Among authors: valenzuela i. Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8. Rev Esp Cardiol (Engl Ed). 2014. PMID: 25200617 No abstract available.
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M. Gago-Díaz M, et al. Among authors: valenzuela i. Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19. Clin Chim Acta. 2014. PMID: 25046559
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Rovira-Moreno E, et al. Among authors: valenzuela i. J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. J Genet Couns. 2021. PMID: 33142000
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L. Lehalle D, et al. Among authors: valenzuela i. J Med Genet. 2020 Dec;57(12):808-819. doi: 10.1136/jmedgenet-2019-106508. Epub 2020 May 14. J Med Genet. 2020. PMID: 32409512
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: valenzuela i. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
107 results