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Year
2014
Referencia
Amyotroph Lateral Scler Frontotemporal Degener. 2014 Dec;15(7-8):563-8. doi: 10.3109/21678421.2014.929148. Epub 2014 Jul 7.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.3109/21678421.2014.929148
Revista
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Títol Complet
Analysis of the C9orf72 gene in spinal muscular atrophy patients.
Codi
55486
PMID
https://pubmed.ncbi.nlm.nih.gov/24998634
Nom Autors
Alias, Laura; Baiget, Montserrat; Barcelo, Maria J; Bernal, Sara; Martinez, Elisabeth; Martinez-Hernandez, Rebeca; Tizzano, Eduardo F et al.
DOI número
10.3109/21678421.2014.929148
Year
2014
Referencia
Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.1093/hmg/ddu002
Revista
HUMAN MOLECULAR GENETICS
Títol Complet
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Codi
55485
PMID
https://pubmed.ncbi.nlm.nih.gov/24403048
Nom Autors
Amor, David J; Ansari, Morad; Atwal, Paldeep S; Bahlo, Melanie; Bando, Masashige; Bowman, Christine M; Bradley, Jacquelyn J; Braunholz, Diana; Brunner, Han G; Christianson, David W et al.
DOI número
10.1093/hmg/ddu002
Year
2014
Referencia
Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.1002/humu.22689
Revista
HUMAN MUTATION
Títol Complet
A new overgrowth syndrome is due to mutations in RNF125.
Codi
55484
PMID
https://pubmed.ncbi.nlm.nih.gov/25196541
Nom Autors
Acosta, Angelina; Alija Merillas, M Jesus; Alonso, Almudena; Antolin, Eugenia; Aragon Fernandez, Carmen; Arberas, Claudia; Arcas, Javier; Arias, Pedro; Armengod, Carmen Gonzalez; Armenta, Daniel et al.
DOI número
10.1002/humu.22689
Year
2014
Referencia
Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8.
Tipus publicació
Letter or abstract
DOI
http://dx.doi.org/10.1016/j.rec.2014.06.003
Revista
REVISTA ESPANOLA DE CARDIOLOGIA
Títol Complet
Nonsyndromic familial aortic disease: an underdiagnosed entity.
Codi
55483
PMID
https://pubmed.ncbi.nlm.nih.gov/25200617
Nom Autors
Borregan, Mar; del Campo, Miguel; Evangelista, Artur; Gutierrez, Laura; Teixido-Tura, Gisela; Valenzuela, Irene et al.
DOI número
10.1016/j.rec.2014.06.003
Year
2014
Referencia
Pediatr Nephrol. 2014 Feb;29(2):223-34. doi: 10.1007/s00467-013-2657-7. Epub 2013 Oct 27.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.1007/s00467-013-2657-7
Revista
PEDIATRIC NEPHROLOGY
Títol Complet
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
Codi
55482
PMID
https://pubmed.ncbi.nlm.nih.gov/24162162
Nom Autors
Ars, Elisabet; Ballarin, Jose; Camacho, Juan Antonio; Ejarque, Laia; Krall, Paola; Mendizabal, Santiago; Oliver, Artur; Pineda, Cristina; Ruiz, Patricia; Torra, Roser et al.
DOI número
10.1007/s00467-013-2657-7
Year
2014
Referencia
J Clin Immunol. 2014 Jul;34(5):521-3. doi: 10.1007/s10875-014-0042-3. Epub 2014 Apr 24.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.1007/s10875-014-0042-3
Revista
JOURNAL OF CLINICAL IMMUNOLOGY
Títol Complet
A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema.
Codi
55481
PMID
https://pubmed.ncbi.nlm.nih.gov/24760113
Nom Autors
Colobran, Roger; Guilarte, Mar; Hernandez-Gonzalez, Manuel; Pujol-Borrell, Ricardo et al.
DOI número
10.1007/s10875-014-0042-3
Year
2014
Referencia
J Immunol. 2014 Oct 15;193(8):3872-9. doi: 10.4049/jimmunol.1400223. Epub 2014 Sep 12.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.4049/jimmunol.1400223
Revista
JOURNAL OF IMMUNOLOGY
Títol Complet
Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens.
Codi
55480
PMID
https://pubmed.ncbi.nlm.nih.gov/25217160
Nom Autors
Armengol, Maria del Pilar; Casteras, Anna; Colobran, Roger; Correa, Paula A; Gimenez-Barcons, Mireia; Marin, Ana; Porta, Eduard; Pujol-Borrell, Ricardo et al.
DOI número
10.4049/jimmunol.1400223
Year
2014
Referencia
Multidiscip Respir Med. 2014 Nov 4;9(1):54. doi: 10.1186/2049-6958-9-54. eCollection 2014.
Tipus publicació
Letter or abstract
DOI
http://dx.doi.org/10.1186/2049-6958-9-54
Revista
Multidisciplinary Respiratory Medicine
Títol Complet
Metabolomic profile of amniotic fluid to evaluate lung maturity: the diaphragmatic hernia lamb model.
Codi
55479
PMID
https://pubmed.ncbi.nlm.nih.gov/25419460
Nom Autors
Andreatta, Erika; Ballico, Maurizio; Calcaterra, Valeria; Federico, Costanzo; Marotta, Mario; Mimmi, Maria Chiara; Nakib, Ghassan; Peiro, Jose Louis; Pelizzo, Gloria; Sampaolesi, Maurilio et al.
DOI número
10.1186/2049-6958-9-54
Year
2014
Referencia
Pediatr Surg Int. 2014 Dec;30(12):1207-15. doi: 10.1007/s00383-014-3610-y. Epub 2014 Oct 15.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.1007/s00383-014-3610-y
Revista
PEDIATRIC SURGERY INTERNATIONAL
Títol Complet
Effect of corticosteroids and lung ventilation in the VEGF and NO pathways in congenital diaphragmatic hernia in rats.
Codi
55478
PMID
https://pubmed.ncbi.nlm.nih.gov/25316436
Nom Autors
Coleman, Allan; Figueira, Rebeca Lopes; Gallindo, Rodrigo Melo; Goncalves, Frances Lilian Lanhellas; Peiro, Jose Luis; Sbragia, Lourenco; Simoes, Ana Leda Bertoncini et al.
DOI número
10.1007/s00383-014-3610-y
Year
2014
Referencia
Actas Urol Esp. 2014 Jan-Feb;38(1):55-61. doi: 10.1016/j.acuro.2013.02.016. Epub 2013 Oct 12.
Tipus publicació
Paper in national publication
DOI
http://dx.doi.org/10.1016/j.acuro.2013.02.016
Revista
Actas Urologicas Espanolas
Títol Complet
Bladder changes after several coverage modalities in the surgically induced model of myelomeningocele in lambs.
Codi
55477
PMID
https://pubmed.ncbi.nlm.nih.gov/24126194
Nom Autors
Burgos, L; Encinas, J L; Garcia-Cabezas, M A; Jaureguizar, E; Lopez-Santamaria, M; Peiro, J L et al.
DOI número
10.1016/j.acuro.2013.02.016
Year
2014
Referencia
Liver Transpl. 2014 May;20(5):552-6. doi: 10.1002/lt.23817. Epub 2014 Jan 27.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.1002/lt.23817
Revista
LIVER TRANSPLANTATION
Títol Complet
Liver biopsy-related infection in liver transplant recipients: A current matter of concern?
Codi
55476
PMID
https://pubmed.ncbi.nlm.nih.gov/24395813
Nom Autors
Allende, Helena; Bilbao, Itxarone; Castells, Lluis; Gavalda, Joan; Gelabert, Maria Arantzazu; Len, Oscar; Pahissa, Albert; Sanchez, Cristina Lopez et al.
DOI número
10.1002/lt.23817
Year
2014
Referencia
Respir Med. 2014 May;108(5):745-51. doi: 10.1016/j.rmed.2014.02.004. Epub 2014 Feb 12.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.1016/j.rmed.2014.02.004
Revista
RESPIRATORY MEDICINE
Títol Complet
Determinants of exercise capacity in obese and non-obese COPD patients.
Codi
55475
PMID
https://pubmed.ncbi.nlm.nih.gov/24565602
Nom Autors
Anto, Josep M; Barbera, Joan Albert; Ferrer, Antoni; Galdiz, Juan B; Garcia-Aymerich, Judith; Gea, Joaquim; Gomez, Federico P; Orozco-Levi, Mauricio; Roca, Josep; Rodriguez, Diego A et al.
DOI número
10.1016/j.rmed.2014.02.004
Year
2014
Referencia
Arch Bronconeumol. 2014 Sep;50(9):397-403. doi: 10.1016/j.arbres.2014.02.007. Epub 2014 Apr 1.
Tipus publicació
Paper in national publication
DOI
http://dx.doi.org/10.1016/j.arbres.2014.02.007
Revista
ARCHIVOS DE BRONCONEUMOLOGIA
Títol Complet
Respiratory diseases registries in the national registry of rare diseases.
Codi
55474
PMID
https://pubmed.ncbi.nlm.nih.gov/24703816
Nom Autors
Abaitua Borda, Ignacio; Cano Jimenez, Esteban; Casanova Espinosa, Alvaro; Castillo Villegas, Diego; Galan Gil, Genaro; Lara Gallego, Beatriz; Ojanguren Arranz, Inigo; Posada de la Paz, Manuel et al.
DOI número
10.1016/j.arbres.2014.02.007
Year
2014
Referencia
Eur Respir Rev. 2014 Jun;23(132):266-70. doi: 10.1183/09059180.00000414.
Tipus publicació
Letter or abstract
DOI
http://dx.doi.org/10.1183/09059180.00000414
Revista
European Respiratory Review
Títol Complet
Specific inhalation challenge tests for occupational asthma in Europe: a survey.
Codi
55473
PMID
https://pubmed.ncbi.nlm.nih.gov/24881084
Nom Autors
Cullinan, Paul; Muñoz, X; Suojalehto, Hille et al.
DOI número
10.1183/09059180.00000414
Year
2014
Referencia
Dev Med Child Neurol. 2014 Dec;56(12):1207-11. doi: 10.1111/dmcn.12523. Epub 2014 Jun 21.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.1111/dmcn.12523
Revista
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Títol Complet
Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.
Codi
55472
PMID
https://pubmed.ncbi.nlm.nih.gov/24954233
Nom Autors
Boronat, Susana; Caruso, Paul; Thiele, Elizabeth A et al.
DOI número
10.1111/dmcn.12523
Year
2014
Referencia
Brain Dev. 2014 Oct;36(9):801-6. doi: 10.1016/j.braindev.2013.11.003. Epub 2013 Dec 8.
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/10.1016/j.braindev.2013.11.003
Revista
BRAIN & DEVELOPMENT
Títol Complet
Arachnoid cysts in tuberous sclerosis complex.
Codi
55471
PMID
https://pubmed.ncbi.nlm.nih.gov/24325802
Nom Autors
Auladell, Maria; Boronat, Susana; Caruso, Paul; Thiele, Elizabeth Anne; Van Eeghen, Agnies et al.
DOI número
10.1016/j.braindev.2013.11.003
Year
2014
Referencia
Am J Exp Clin Res 2014;1(1):6-10
Tipus publicació
Letter or abstract
DOI
http://dx.doi.org/
Revista
Journal of Clinical & Experimental Research
Títol Complet
The unresolved issue of oxygen therpay in lung fibrosis: Some clues from a Spanish cohort
Codi
55470
PMID
https://pubmed.ncbi.nlm.nih.gov/91000008
Nom Autors
Balcells, E; Cano, E; Castillo, D; Marín, A; Martí, I; Martí, S; Molina, M; Moreno, A; Robles, A; Vicens-Zygmunt, V et al.
Year
2014
Referencia
Rev. am. med. respir. vol.14 no.1 CABA mar. 2014
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/
Revista
Revista Americana de Medicina Respiratoria
Títol Complet
Normativas de diagnóstico y tratamiento del déficit de alfa-1-antitripsina
Codi
55469
PMID
https://pubmed.ncbi.nlm.nih.gov/91000009
Nom Autors
Blanco, I; Echazarreta, AL; Fernández Acquier M; Fernández ME; Figueroa Casas JC; Menga, G ; Miravitlles, M; Rossi SE; Sáez Scherbovsky P; Sorroche PB et al.
Year
2014
Referencia
doi:10.4155/cli.14.89
Tipus publicació
Paper in international publication
DOI
http://dx.doi.org/
Revista
Clinical and Investigative Medicine
Títol Complet
Glycopyrronium for chronic obstructive pulmonary disease: evidence and rationale for use from the GLOW trials
Codi
55468
PMID
https://pubmed.ncbi.nlm.nih.gov/91000010
Nom Autors
Altman P; Beeh KM; Miravitlles M et al.
Year
2014
Referencia
Revista Rol de Enfermería 2014;37(10): 650-656
Tipus publicació
Letter or abstract
DOI
http://dx.doi.org/
Revista
Revista Rol de Enfermería
Títol Complet
Opinión de los profesionales sanitarios sobre la adherencia y manejo de tratamientos de larga duración en adolescentes
Codi
55467
PMID
https://pubmed.ncbi.nlm.nih.gov/91000011
Nom Autors
Cámara E; Cebrián ML; Conde C; Fernández V; Gil P; Milán R et al.