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Best matches for Millán JM[au]:

Brainstem stroke: anatomy, clinical and radiological findings. Ortiz de Mendivil A et al. Semin Ultrasound CT MR. (2013)

USH2A Gene Editing Using the CRISPR System. Fuster-García C et al. Mol Ther Nucleic Acids. (2017)

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Calucho M et al. Neuromuscul Disord. (2018)

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Items: 1 to 50 of 177

1.

Genetic Screening of the Usher Syndrome in Cuba.

Santana EE, Fuster-García C, Aller E, Jaijo T, García-Bohórquez B, García-García G, Millán JM, Lantigua A.

Front Genet. 2019 May 22;10:501. doi: 10.3389/fgene.2019.00501. eCollection 2019.

2.

Metformin treatment reduces motor and neuropsychiatric phenotypes in the zQ175 mouse model of Huntington disease.

Sanchis A, García-Gimeno MA, Cañada-Martínez AJ, Sequedo MD, Millán JM, Sanz P, Vázquez-Manrique RP.

Exp Mol Med. 2019 Jun 5;51(6):65. doi: 10.1038/s12276-019-0264-9.

3.

Spatial and temporal trends of marine litter in the Spanish Mediterranean seafloor.

García-Rivera S, Lizaso JLS, Millán JMB.

Mar Pollut Bull. 2018 Dec;137:252-261. doi: 10.1016/j.marpolbul.2018.09.051. Epub 2018 Oct 16.

PMID:
30503433
4.

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

Moreau-Le Lan S, Aller E, Calabria I, Gonzalez-Tarancon L, Cardona-Gay C, Martinez-Matilla M, Aparisi MJ, Selles J, Sagath L, Pitarch I, Muelas N, Cervera JV, Millan JM, Pedrola L.

PLoS One. 2018 Dec 5;13(12):e0207296. doi: 10.1371/journal.pone.0207296. eCollection 2018.

5.

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Fuster-García C, García-García G, Jaijo T, Fornés N, Ayuso C, Fernández-Burriel M, Sánchez-De la Morena A, Aller E, Millán JM.

Sci Rep. 2018 Nov 20;8(1):17113. doi: 10.1038/s41598-018-35085-0.

6.

Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.

Zurita-Díaz F, Ortuño-Costela MDC, Moreno-Izquierdo A, Galbis L, Millán JM, Ayuso C, Garesse R, Gallardo ME.

Stem Cell Res. 2018 Aug;31:152-156. doi: 10.1016/j.scr.2018.08.002. Epub 2018 Aug 2.

7.

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C.

PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018.

8.

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF.

Neuromuscul Disord. 2018 Mar;28(3):208-215. doi: 10.1016/j.nmd.2018.01.003. Epub 2018 Jan 11.

PMID:
29433793
9.

HIF-1α stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa.

Olivares-González L, Martínez-Fernández de la Cámara C, Hervás D, Millán JM, Rodrigo R.

FASEB J. 2018 May;32(5):2438-2451. doi: 10.1096/fj.201700985R. Epub 2018 Jan 8.

PMID:
29295858
10.

USH2A Gene Editing Using the CRISPR System.

Fuster-García C, García-García G, González-Romero E, Jaijo T, Sequedo MD, Ayuso C, Vázquez-Manrique RP, Millán JM, Aller E.

Mol Ther Nucleic Acids. 2017 Sep 15;8:529-541. doi: 10.1016/j.omtn.2017.08.003. Epub 2017 Aug 12.

11.

The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.

Rodríguez-Muñoz A, García-García G, Menor F, Millán JM, Tomás-Vila M, Jaijo T.

Clin Chem Lab Med. 2018 Jan 26;56(2):229-235. doi: 10.1515/cclm-2017-0226.

PMID:
28742514
12.

Metformin intake associates with better cognitive function in patients with Huntington's disease.

Hervás D, Fornés-Ferrer V, Gómez-Escribano AP, Sequedo MD, Peiró C, Millán JM, Vázquez-Manrique RP.

PLoS One. 2017 Jun 20;12(6):e0179283. doi: 10.1371/journal.pone.0179283. eCollection 2017.

13.

Composition, spatial distribution and sources of macro-marine litter on the Gulf of Alicante seafloor (Spanish Mediterranean).

García-Rivera S, Lizaso JLS, Millán JMB.

Mar Pollut Bull. 2017 Aug 15;121(1-2):249-259. doi: 10.1016/j.marpolbul.2017.06.022. Epub 2017 Jun 12.

PMID:
28619627
14.

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Tell-Marti G, Puig-Butille JA, Gimenez-Xavier P, Segu-Roig A, Potrony M, Badenas C, Alvarez V, Millán JM, Trujillo-Tiebas MJ, Ramos-Arroyo MA, Milà M, Puig S.

Mol Neurobiol. 2017 Jul;54(5):3906-3910. doi: 10.1007/s12035-016-0305-5. Epub 2016 Dec 6.

PMID:
27924526
15.

cGMP-Phosphodiesterase Inhibition Prevents Hypoxia-Induced Cell Death Activation in Porcine Retinal Explants.

Olivares-González L, Martínez-Fernández de la Cámara C, Hervás D, Marín MP, Lahoz A, Millán JM, Rodrigo R.

PLoS One. 2016 Nov 18;11(11):e0166717. doi: 10.1371/journal.pone.0166717. eCollection 2016.

16.

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.

Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E.

Mol Ther Nucleic Acids. 2016 Nov 1;5(10):e381. doi: 10.1038/mtna.2016.89.

17.

[The new challenge in oncology: Next-generation sequencing and its application in precision medicine].

Calabria I, Pedrola L, Berlanga P, Aparisi MJ, Sánchez-Izquierdo D, Cañete A, Cervera J, Millán JM, Castel V.

An Pediatr (Barc). 2016 Nov;85(5):273.e1-273.e7. doi: 10.1016/j.anpedi.2016.05.006. Epub 2016 Jun 24. Review. Spanish.

18.

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.

Sci Rep. 2016 Apr 22;6:24843. doi: 10.1038/srep24843. No abstract available.

19.

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C.

Neurologia. 2017 Jul - Aug;32(6):377-385. doi: 10.1016/j.nrl.2015.12.009. Epub 2016 Mar 9. English, Spanish.

20.

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.

Blanco-Kelly F, García Hoyos M, Lopez Martinez MA, Lopez-Molina MI, Riveiro-Alvarez R, Fernandez-San Jose P, Avila-Fernandez A, Corton M, Millan JM, García Sandoval B, Ayuso C.

PLoS One. 2016 Feb 24;11(2):e0149473. doi: 10.1371/journal.pone.0149473. eCollection 2016.

21.

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.

Sci Rep. 2016 Jan 25;6:19531. doi: 10.1038/srep19531. Erratum in: Sci Rep. 2016 Apr 22;6:24843.

22.

AMPK activation protects from neuronal dysfunction and vulnerability across nematode, cellular and mouse models of Huntington's disease.

Vázquez-Manrique RP, Farina F, Cambon K, Dolores Sequedo M, Parker AJ, Millán JM, Weiss A, Déglon N, Neri C.

Hum Mol Genet. 2016 Mar 15;25(6):1043-58. doi: 10.1093/hmg/ddv513. Epub 2015 Dec 17.

23.

The Effect of Cranioplasty on Cerebral Hemodynamics as Measured by Perfusion Computed Tomography and Doppler Ultrasonography.

Paredes I, Castaño AM, Cepeda S, Alén JA, Salvador E, Millán JM, Lagares A.

J Neurotrauma. 2016 Sep 1;33(17):1586-97. doi: 10.1089/neu.2015.4261. Epub 2016 Jan 28.

24.

Persistent trigeminal artery: a cross-sectional study based on over 3 years conventional angiography, CT angiography and MR angiography images.

Arráez-Aybar LA, Fuentes-Redondo T, Millán JM.

Surg Radiol Anat. 2016 May;38(4):445-53. doi: 10.1007/s00276-015-1578-5. Epub 2015 Oct 26.

PMID:
26499125
25.

Adalimumab Reduces Photoreceptor Cell Death in A Mouse Model of Retinal Degeneration.

Martínez-Fernández de la Cámara C, Hernández-Pinto AM, Olivares-González L, Cuevas-Martín C, Sánchez-Aragó M, Hervás D, Salom D, Cuezva JM, de la Rosa EJ, Millán JM, Rodrigo R.

Sci Rep. 2015 Jul 14;5:11764. doi: 10.1038/srep11764.

26.

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

Pozo MG, Bravo-Gil N, Méndez-Vidal C, Montero-de-Espinosa I, Millán JM, Dopazo J, Borrego S, Antiñolo G.

Am J Med Genet A. 2015 Jul;167(7):1597-600. doi: 10.1002/ajmg.a.37003. Epub 2015 Mar 30.

PMID:
25823529
27.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM.

Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7.

28.

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.

Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, López-Molina MI, Giménez A, García-Sandoval B, Millán JM, Ayuso C.

JAMA Ophthalmol. 2015 Feb;133(2):157-64. doi: 10.1001/jamaophthalmol.2014.4498.

29.

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

García-García G, Aller E, Jaijo T, Aparisi MJ, Larrieu L, Faugère V, Blanco-Kelly F, Ayuso C, Roux AF, Millán JM.

Mol Vis. 2014 Sep 25;20:1398-410. eCollection 2014.

30.

Management and return of incidental genomic findings in clinical trials.

Ayuso C, Millan JM, Dal-Re R.

Pharmacogenomics J. 2015 Feb;15(1):1-5. doi: 10.1038/tpj.2014.62. Epub 2014 Oct 28. Review.

PMID:
25348616
31.

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

Sánchez-Alcudia R, Cortón M, Ávila-Fernández A, Zurita O, Tatu SD, Pérez-Carro R, Fernandez-San Jose P, Lopez-Martinez MÁ, del Castillo FJ, Millan JM, Blanco-Kelly F, García-Sandoval B, Lopez-Molina MI, Riveiro-Alvarez R, Ayuso C.

Invest Ophthalmol Vis Sci. 2014 Oct 23;55(11):7562-71. doi: 10.1167/iovs.14-14938. Erratum in: Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2262.

PMID:
25342620
32.

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Krawitz PM, Schiska D, Krüger U, Appelt S, Heinrich V, Parkhomchuk D, Timmermann B, Millan JM, Robinson PN, Mundlos S, Hecht J, Gross M.

Mol Genet Genomic Med. 2014 Sep;2(5):393-401. doi: 10.1002/mgg3.92. Epub 2014 Jun 15.

33.

Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina.

Martínez-Fernández de la Cámara C, Olivares-González L, Hervás D, Salom D, Millán JM, Rodrigo R.

J Neuroinflammation. 2014 Oct 10;11:172. doi: 10.1186/s12974-014-0172-9.

34.

Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study.

Reinés JB, Vera TR, Martín MU, Serra HA, Campins MM, Millán JM, Lezaun CG, Cruz MR.

Orphanet J Rare Dis. 2014 Feb 26;9:29. doi: 10.1186/1750-1172-9-29.

35.

Experience of targeted Usher exome sequencing as a clinical test.

Besnard T, García-García G, Baux D, Vaché C, Faugère V, Larrieu L, Léonard S, Millan JM, Malcolm S, Claustres M, Roux AF.

Mol Genet Genomic Med. 2014 Jan;2(1):30-43. doi: 10.1002/mgg3.25. Epub 2013 Jul 10.

36.

A prognostic model based on preoperative MRI predicts overall survival in patients with diffuse gliomas.

Hilario A, Sepulveda JM, Perez-Nuñez A, Salvador E, Millan JM, Hernandez-Lain A, Rodriguez-Gonzalez V, Lagares A, Ramos A.

AJNR Am J Neuroradiol. 2014 Jun;35(6):1096-102. doi: 10.3174/ajnr.A3837. Epub 2014 Jan 23.

37.

Enzymatic vitrectomy for diabetic retinopathy and diabetic macular edema.

Diaz-Llopis M, Udaondo P, Millán JM, Arevalo JF.

World J Diabetes. 2013 Dec 15;4(6):319-23. doi: 10.4239/wjd.v4.i6.319. Review.

38.

Analysis of the Ush2a gene in medaka fish (Oryzias latipes).

Aller E, Sánchez-Sánchez AV, Chicote JU, García-García G, Udaondo P, Cavallé L, Piquer-Gil M, García-España A, Díaz-Llopis M, Millán JM, Mullor JL.

PLoS One. 2013 Sep 23;8(9):e74995. doi: 10.1371/journal.pone.0074995. eCollection 2013.

39.

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R, Sevilla T, Vílchez JJ, Martínez-Rubio D, Chumillas MJ, Vázquez JF, Muelas N, Bataller L, Millán JM, Palau F, Espinós C.

Neurology. 2013 Oct 29;81(18):1617-25. doi: 10.1212/WNL.0b013e3182a9f56a. Epub 2013 Sep 27.

40.

Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa.

Martínez-Fernández de la Cámara C, Salom D, Sequedo MD, Hervás D, Marín-Lambíes C, Aller E, Jaijo T, Díaz-Llopis M, Millán JM, Rodrigo R.

PLoS One. 2013 Sep 12;8(9):e74223. doi: 10.1371/journal.pone.0074223. eCollection 2013.

41.

Genetic testing information standardization in HL7 CDA and ISO13606.

Bosca D, Marco L, Burriel V, Jaijo T, Millán JM, Levin A, Pastor O, Robles M, Maldonado JA.

Stud Health Technol Inform. 2013;192:338-42.

PMID:
23920572
42.

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.

Alías L, Barceló MJ, Bernal S, Martínez-Hernández R, Also-Rallo E, Vázquez C, Santana A, Millán JM, Baiget M, Tizzano EF.

Clin Genet. 2014 May;85(5):470-5. doi: 10.1111/cge.12222. Epub 2013 Jul 16.

PMID:
23799925
43.

Reply to Townsend et al.

Ayuso C, Millán JM, Mancheño M, Dal-Ré R.

Eur J Hum Genet. 2014 Jan;22(1):7. doi: 10.1038/ejhg.2013.95. Epub 2013 May 15. No abstract available.

44.

Guidelines for genetic study of aniridia.

Blanco-Kelly F, Villaverde-Montero C, Lorda-Sánchez I, Millán JM, Trujillo-Tiebas MJ, Ayuso C.

Arch Soc Esp Oftalmol. 2013 Apr;88(4):145-52. doi: 10.1016/j.oftal.2012.07.006. Epub 2012 Sep 25. Review. English, Spanish.

PMID:
23597644
45.

Phosphodiesterase inhibition induces retinal degeneration, oxidative stress and inflammation in cone-enriched cultures of porcine retina.

Martínez-Fernández de la Cámara C, Sequedo MD, Gómez-Pinedo U, Jaijo T, Aller E, García-Tárraga P, García-Verdugo JM, Millán JM, Rodrigo R.

Exp Eye Res. 2013 Jun;111:122-33. doi: 10.1016/j.exer.2013.03.015. Epub 2013 Apr 9.

PMID:
23578797
46.

Brainstem stroke: anatomy, clinical and radiological findings.

Ortiz de Mendivil A, Alcalá-Galiano A, Ochoa M, Salvador E, Millán JM.

Semin Ultrasound CT MR. 2013 Apr;34(2):131-41. doi: 10.1053/j.sult.2013.01.004. Review.

PMID:
23522778
47.

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

Aparisi MJ, García-García G, Aller E, Sequedo MD, Martínez-Fernández de la Cámara C, Rodrigo R, Armengot M, Cortijo J, Milara J, Díaz-LLopis M, Jaijo T, Millán JM.

PLoS One. 2013;8(2):e57506. doi: 10.1371/journal.pone.0057506. Epub 2013 Feb 25.

48.

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.

García-García G, Besnard T, Baux D, Vaché C, Aller E, Malcolm S, Claustres M, Millan JM, Roux AF.

Mol Vis. 2013;19:367-73. Epub 2013 Feb 13.

49.

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.

Ayuso C, Millán JM, Mancheño M, Dal-Ré R.

Eur J Hum Genet. 2013 Oct;21(10):1054-9. doi: 10.1038/ejhg.2012.297. Epub 2013 Jan 16.

50.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

García-García G, Aparisi MJ, Rodrigo R, Sequedo MD, Espinós C, Rosell J, Olea JL, Mendívil MP, Ramos-Arroyo MA, Ayuso C, Jaijo T, Aller E, Millán JM.

Mol Vis. 2012;18:3070-8. Epub 2012 Dec 29.

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