Zobrazeno 1 - 10 of 159 pro vyhledávání: '"Castilla Vallmanya L"'
1
Akademický článek
Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease.
Autor: Horváth V; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Garza R; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Jönsson ME; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Johansson PA; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Adami A; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Christoforidou G; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden.; Laboratory of Epigenetics and Chromatin Dynamics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Karlsson O; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Castilla Vallmanya L; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Koutounidou S; Laboratory of Epigenetics and Chromatin Dynamics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Gerdes P; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Pandiloski N; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden.; Laboratory of Epigenetics and Chromatin Dynamics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Douse CH; Laboratory of Epigenetics and Chromatin Dynamics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden., Jakobsson J; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University, Lund, Sweden. johan.jakobsson@med.lu.se.
Publikováno v: Nature structural & molecular biology [Nat Struct Mol Biol] 2024 Oct; Vol. 31 (10), pp. 1543-1556. Date of Electronic Publication: 2024 Jun 04.
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3
Akademický článek
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.
Autor: Oliva C; Clinical Biochemistry Department, Sant Joan de Déu Research Institute, Passeig Sant Joan de Déu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain., Arias A; Clinical Biochemistry Department, Sant Joan de Déu Research Institute, Passeig Sant Joan de Déu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain., Ruiz M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Avinguda de la Gran via de l'Hospitalet, 199, 08908 L'Hospitalet de Llobregat, Barcelona, Spain; Catalan Institution of Research and Advanced Studies (ICREA), Universitat Autònoma de Barcelona, Av. de Serragalliners, s/n, 08193 Bellaterra, Barcelona, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Avinguda de la Gran via de l'Hospitalet, 199, 08908 L'Hospitalet de Llobregat, Barcelona, Spain; Catalan Institution of Research and Advanced Studies (ICREA), Universitat Autònoma de Barcelona, Av. de Serragalliners, s/n, 08193 Bellaterra, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Avda. de Monforte de Lemos, 5, 28029 Madrid, Spain., Garrabou G; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Avda. de Monforte de Lemos, 5, 28029 Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, CELLEX-August Pi i Sunyer Biomedical Research Institute, C/ del Roselló, 149, 08036, Barcelona, Spain; Faculty of Medicine and Health Sciences-University of Barcelona, C/ de Casanova, 143, 08036 Barcelona, Spain; Internal Medicine Department-Hospital Clinic of Barcelona, C/ del Roselló, 149, 08036 Barcelona, Spain., Canto-Santos J; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Avda. de Monforte de Lemos, 5, 28029 Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, CELLEX-August Pi i Sunyer Biomedical Research Institute, C/ del Roselló, 149, 08036, Barcelona, Spain., Urreizti R; Clinical Biochemistry Department, Sant Joan de Déu Research Institute, Passeig Sant Joan de Déu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Avda. de Monforte de Lemos, 5, 28029 Madrid, Spain., Castilla-Vallmanya L; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Avda. de Monforte de Lemos, 5, 28029 Madrid, Spain; Department of Genetics, Microbiology and Statistics, Institute of Biomedicine (IBUB), Faculty of Biology, Universitat de Barcelona, Avinguda Diagonal, 643, 08028 Barcelona, Spain., Rodriguez-Gonzalez H; Clinical Biochemistry Department, Sant Joan de Déu Research Institute, Passeig Sant Joan de Déu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain., Jou C; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Avda. de Monforte de Lemos, 5, 28029 Madrid, Spain; Biobank and Pathology department, Hospital Sant Joan de Deu, Passeig Sant Joan de Déu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain., Casado M; Clinical Biochemistry Department, Sant Joan de Déu Research Institute, Passeig Sant Joan de Déu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Avda. de Monforte de Lemos, 5, 28029 Madrid, Spain., Ormazabal A; Clinical Biochemistry Department, Sant Joan de Déu Research Institute, Passeig Sant Joan de Déu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Avda. de Monforte de Lemos, 5, 28029 Madrid, Spain., Artuch R; Clinical Biochemistry Department, Sant Joan de Déu Research Institute, Passeig Sant Joan de Déu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Avda. de Monforte de Lemos, 5, 28029 Madrid, Spain. Electronic address: Rafael.artuch@sjd.es.
Publikováno v: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences [J Chromatogr B Analyt Technol Biomed Life Sci] 2023 Jul 15; Vol. 1226, pp. 123787. Date of Electronic Publication: 2023 Jun 10.
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4
Akademický článek
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Autor: Castilla-Vallmanya L; Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain., Centeno-Pla M; Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Serrano M; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain.; Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Franco-Valls H; Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain., Martínez-Cabrera R; Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain., Prat-Planas A; Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain., Rojano E; Department of Molecular Biology and Biochemistry; Institute of Biomedical Research in Málaga (IBIMA), University of Málaga, Málaga, Spain., Ranea JAG; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain.; Department of Molecular Biology and Biochemistry; Institute of Biomedical Research in Málaga (IBIMA), University of Málaga, Málaga, Spain., Seoane P; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain.; Department of Molecular Biology and Biochemistry; Institute of Biomedical Research in Málaga (IBIMA), University of Málaga, Málaga, Spain., Oliva C; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Paredes-Fuentes AJ; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Marfany G; Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain., Artuch R; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain.; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Grinberg D; Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain., Rabionet R; Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain., Balcells S; Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain., Urreizti R; Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain roserurreizti@gmail.com.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain.; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
Publikováno v: Journal of medical genetics [J Med Genet] 2023 Apr; Vol. 60 (4), pp. 406-415. Date of Electronic Publication: 2022 Sep 07.
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5
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies
Autor: Leon E, Diaz J, Castilla-Vallmanya L, Grinberg-Vaisman DR, Balcells S, Urreizti R
Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Bohring-Opitz syndrome (BOS) has been described as a clinically recognizable genetic syndrome since 1999. Clinical diagnostic criteria were established in 2011 and include microcephaly, trigonocephaly, distinctive craniofacial dysmorphic features, fa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::958c8adc84fa1172793b1f6b6a1e97ee
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16820
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6
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
Autor: Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg-Vaisman DR, Brinkmann U, Webb BD, Balcells S
Publikováno v: EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Following the publication of the article, it was noted that the last column in Table 1, the total % should have read 5/8 (62.5) for the 'Epilepsy' row, and not 5.7 (71.4). This has now been amended in the HTML and PDF of the original article.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::15ccb2a3d073cce625e64843a36fa8d5
https://www.nature.com/articles/s41431-019-0394-5.pdf
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7
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Autor: Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E, Balcells S
Publikováno v: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
BACKGROUND: Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypotonia, and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7f8600f8762418880c74b3ab1094ce55
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17396
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8
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
Autor: Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg-Vaisman DR, Brinkmann U, Webb BD, Balcells S
Publikováno v: EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
DPH1 variants have been associated with an ultra-rare and severe neurodevelopmental disorder, mainly characterized by variable developmental delay, short stature, dysmorphic features, and sparse hair. We have identified four new patients (from two di
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::01db147c8e216a5a1b6ee6ddc7447942
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16084
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9
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Autor: Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, Gordon CT
Publikováno v: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8681f41dd6fc27fa740af813b6ca88f8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718
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10
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development
Autor: Beneto N, Cozar M, Castilla-Vallmanya L, Zetterdahl OG, Sacultanu M, Segur-Bailach E, García-Morant M, Ribes A, Ahlenius H, Grinberg-Vaisman DR, Vilageliu L, Canals I
Publikováno v: Journal of Clinical Medicine
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Sanfilippo syndrome type C (mucopolysaccharidosis IIIC) is an early-onset neurodegenerative lysosomal storage disorder, which is currently untreatable. The vast majority of studies focusing on disease mechanisms of Sanfilippo syndrome were performed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2b465c148da7901c81e0d2ce513c1a90
https://www.mdpi.com/2077-0383/9/3/644
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