Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 36

1.

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

Pajares S, López RM, Gort L, Argudo-Ramírez A, Marín JL, González de Aledo-Castillo JM, García-Villoria J, Arranz JA, Del Toro M, Tort F, Ugarteburu O, Casellas MD, Fernández R, Ribes A.

Mol Genet Metab Rep. 2020 Jan 2;22:100553. doi: 10.1016/j.ymgmr.2019.100553. eCollection 2020 Mar.

2.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.

J Inherit Metab Dis. 2019 Jul 24. doi: 10.1002/jimd.12156. [Epub ahead of print]

PMID:
31339582
3.

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A.

Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17.

PMID:
31058414
4.

Microbial Source Tracking Analysis Using Viral Indicators in Santa Lucía and Uruguay Rivers, Uruguay.

Bortagaray V, Lizasoain A, Piccini C, Gillman L, Berois M, Pou S, Díaz MDP, Tort FL, Colina R, Victoria M.

Food Environ Virol. 2019 Sep;11(3):259-267. doi: 10.1007/s12560-019-09384-2. Epub 2019 Apr 3.

PMID:
30945138
5.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Review. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
6.

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R.

J Clin Med. 2019 Jan 10;8(1). pii: E68. doi: 10.3390/jcm8010068.

7.

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.

García-Villoria J, De Azua B, Tort F, Mosegaard S, Ugarteburu O, Texidó L, Morales-Romero B, Olsen RKJ, Ribes A.

Clin Genet. 2018 Dec;94(6):592-593. doi: 10.1111/cge.13452. No abstract available.

PMID:
30427553
8.

Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction.

Guitart-Mampel M, Gonzalez-Tendero A, Niñerola S, Morén C, Catalán-Garcia M, González-Casacuberta I, Juárez-Flores DL, Ugarteburu O, Matalonga L, Cascajo MV, Tort F, Cortés A, Tobias E, Milisenda JC, Grau JM, Crispi F, Gratacós E, Garrabou G, Cardellach F.

Biochim Biophys Acta Gen Subj. 2018 May;1862(5):1157-1167. doi: 10.1016/j.bbagen.2018.02.006. Epub 2018 Feb 13.

9.

Human Bocavirus: Detection, Quantification and Molecular Characterization in Sewage and Surface Waters in Uruguay.

Salvo M, Lizasoain A, Castells M, Bortagaray V, Castro S, Colina R, Tort FL, Victoria M.

Food Environ Virol. 2018 Jun;10(2):193-200. doi: 10.1007/s12560-017-9334-0. Epub 2018 Jan 3.

PMID:
29299861
10.

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.

Tort F, Ugarteburu O, Torres MA, García-Villoria J, Girós M, Ruiz A, Ribes A.

Pediatrics. 2016 Nov;138(5). pii: e20154534. Epub 2016 Oct 18.

11.

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M.

Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26.

PMID:
27862579
12.

Differential diagnosis of lipoic acid synthesis defects.

Tort F, Ferrer-Cortes X, Ribes A.

J Inherit Metab Dis. 2016 Nov;39(6):781-793. Epub 2016 Sep 1. Review.

PMID:
27586888
13.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F.

Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11.

PMID:
26688339
14.

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.

Matalonga L, Arias Á, Tort F, Ferrer-Cortés X, Garcia-Villoria J, Coll MJ, Gort L, Ribes A.

Neurotherapeutics. 2015 Oct;12(4):874-86. doi: 10.1007/s13311-015-0368-4.

15.

Phylogenetic analyses of Norovirus strains detected in Uruguay reveal the circulation of the novel GII.P7/GII.6 recombinant variant.

Fajardo Á, Tort FL, Victoria M, Fumian TM, Miagostovich MP, Leite JP, Cristina J, Colina R.

Infect Genet Evol. 2014 Dec;28:328-32. doi: 10.1016/j.meegid.2014.10.026. Epub 2014 Nov 4.

PMID:
25445648
16.

Lipoic acid biosynthesis defects.

Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W.

J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705-8. Epub 2014 Apr 29. Review.

PMID:
24777537
17.

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch R, García-Cazorla À, Briones P, Ribes A.

Hum Mol Genet. 2014 Apr 1;23(7):1907-15. doi: 10.1093/hmg/ddt585. Epub 2013 Nov 20.

PMID:
24256811
18.

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013.04.021. Epub 2013 May 3.

PMID:
23707711
19.

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F.

J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22.

PMID:
23179554
20.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A.

Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31.

PMID:
22980518
21.

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R.

Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005.

22.

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.

Tort F, Del Toro M, Lissens W, Montoya J, Fernàndez-Burriel M, Font A, Buján N, Navarro-Sastre A, López-Gallardo E, Arranz JA, Riudor E, Briones P, Ribes A.

Clin Genet. 2011 Sep;80(3):297-300. doi: 10.1111/j.1399-0004.2011.01650.x. No abstract available.

PMID:
21815885
23.

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.

Font A, Tort F, Navarro-Sastre A, Cusí V, García-Villoria J, Briones P, Ribes A.

JIMD Rep. 2011;1:125-9. doi: 10.1007/8904_2011_27. Epub 2011 Jun 22.

24.

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S315-9. doi: 10.1007/s10545-010-9169-4. Epub 2010 Jul 21.

PMID:
20652410
25.

Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpoints.

Bartkova J, Rezaei N, Liontos M, Karakaidos P, Kletsas D, Issaeva N, Vassiliou LV, Kolettas E, Niforou K, Zoumpourlis VC, Takaoka M, Nakagawa H, Tort F, Fugger K, Johansson F, Sehested M, Andersen CL, Dyrskjot L, Ørntoft T, Lukas J, Kittas C, Helleday T, Halazonetis TD, Bartek J, Gorgoulis VG.

Nature. 2006 Nov 30;444(7119):633-7.

PMID:
17136093
26.

Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesis.

Tort F, Bartkova J, Sehested M, Orntoft T, Lukas J, Bartek J.

Cancer Res. 2006 Nov 1;66(21):10258-63.

27.

DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis.

Bartkova J, Horejsí Z, Koed K, Krämer A, Tort F, Zieger K, Guldberg P, Sehested M, Nesland JM, Lukas C, Ørntoft T, Lukas J, Bartek J.

Nature. 2005 Apr 14;434(7035):864-70.

PMID:
15829956
28.

Immunohistochemical analysis of ZAP-70 expression in B-cell lymphoid neoplasms.

Carreras J, Villamor N, Colomo L, Moreno C, Ramón y Cajal S, Crespo M, Tort F, Bosch F, López-Guillermo A, Colomer D, Montserrat E, Campo E.

J Pathol. 2005 Mar;205(4):507-13.

PMID:
15685592
29.

Checkpoint kinase 1 (CHK1) protein and mRNA expression is downregulated in aggressive variants of human lymphoid neoplasms.

Tort F, Hernández S, Beà S, Camacho E, Fernández V, Esteller M, Fraga MF, Burek C, Rosenwald A, Hernández L, Campo E.

Leukemia. 2005 Jan;19(1):112-7.

PMID:
15526025
30.

Heterogeneity of genomic breakpoints in MSN-ALK translocations in anaplastic large cell lymphoma.

Tort F, Campo E, Pohlman B, Hsi E.

Hum Pathol. 2004 Aug;35(8):1038-41.

PMID:
15297972
31.

Familial lymphoid neoplasms in patients with mantle cell lymphoma.

Tort F, Camacho E, Bosch F, Harris NL, Montserrat E, Campo E.

Haematologica. 2004 Mar;89(3):314-9.

32.

CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomas.

Tort F, Hernàndez S, Beà S, Martínez A, Esteller M, Herman JG, Puig X, Camacho E, Sánchez M, Nayach I, Lopez-Guillermo A, Fernández PL, Colomer D, Hernàndez L, Campo E.

Blood. 2002 Dec 15;100(13):4602-8. Epub 2002 Aug 1.

PMID:
12393693
33.

ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.

Camacho E, Hernández L, Hernández S, Tort F, Bellosillo B, Beà S, Bosch F, Montserrat E, Cardesa A, Fernández PL, Campo E.

Blood. 2002 Jan 1;99(1):238-44.

PMID:
11756177
34.

Molecular characterization of a new ALK translocation involving moesin (MSN-ALK) in anaplastic large cell lymphoma.

Tort F, Pinyol M, Pulford K, Roncador G, Hernandez L, Nayach I, Kluin-Nelemans HC, Kluin P, Touriol C, Delsol G, Mason D, Campo E.

Lab Invest. 2001 Mar;81(3):419-26.

35.

BMI-1 gene amplification and overexpression in hematological malignancies occur mainly in mantle cell lymphomas.

Beà S, Tort F, Pinyol M, Puig X, Hernández L, Hernández S, Fernandez PL, van Lohuizen M, Colomer D, Campo E.

Cancer Res. 2001 Mar 15;61(6):2409-12.

36.

[Infantile mortality in Ile-et-Vilaine (1970-1986)].

Sénécal J, Roussey M, Morellec J, Debroise C, Jouan H, Le Tort F, Sénécal S.

Arch Fr Pediatr. 1989 Jun-Jul;46(6):451-8. French.

PMID:
2783007

Supplemental Content

Support Center