Genetics Medicine

The Genetics Medicine group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Vall d’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development.

The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD.

Specific research lines and teams include:

Neuromuscular development, genetics and molecular therapy for spinal muscular atrophy.
Genetic and functional evaluation of CFTR pathogenic variants in cystic fibrosis patients treated with modulators.
Genetic bases of mental retardation, CNS malformations and autism spectrum disorders.
Epigenetic disorders secondary to alterations in the methylation of chromosomal regions subjected to imprinting.
Genetic bases of aortic pathology, RASopathies, 22q11.2 deletions and duplications, tuberous sclerosis, disorders of sexual differentiation, hypothyroidism, growth disorders, skeletal dysplasias, cleft lip and palate.
Better phenotype delineations and genomic approach of rare and ultra-rare genetic syndromes including fetal pathology and malformations.
Development and validation of new tools and strategies for genetic diagnosis.

Team

Palau Continente, Dolors

Genetics Medicine
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Patricia Muñoz Cabello

Predoctoral researcher
Genetics Medicine
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Pedro Antonio Martinez Fernandez

Research technician
Genetics Medicine
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Trujillano Lidon, Carmen Laura

Postdoctoral researcher
Genetics Medicine
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Alberto Plaja Rustein

Main researcher
Genetics Medicine
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Anna Abuli Vidal

Postdoctoral researcher
Genetics Medicine
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Palau Continente, Dolors

Genetics Medicine
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Patricia Muñoz Cabello

Predoctoral researcher
Genetics Medicine
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Pedro Antonio Martinez Fernandez

Research technician
Genetics Medicine
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Trujillano Lidon, Carmen Laura

Postdoctoral researcher
Genetics Medicine
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Alberto Plaja Rustein

Main researcher
Genetics Medicine
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Anna Abuli Vidal

Postdoctoral researcher
Genetics Medicine
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Research lines

Study of the cleft lip and palate

IP: -

Projects

Aquest any no hi ha projectes actius.

Publications

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.

PMID: 39035824
Journal: Neurology-Genetics
Year: 2024
Reference: Neurol Genet. 2024 Jul 16;10(4):e200175. doi: 10.1212/NXG.0000000000200175. eCollection 2024 Aug.
Impact factor:
Publication type: Paper in international publication
Authors: Blasco-Perez, Laura; Codina-Sola, Marta; Costa-Roger, Mar; Drunat, Severine; Garcia-Uzquiano, Rocio; Gerin, Lorene; Gomez-Garcia De la Banda, Marta; Leno-Colorado, Jordi; Quijano-Roy, Susana; Saugier-Veber, Pascale et al.
DOI: 10.1212/NXG.0000000000200175

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

PMID: 39040671
Journal: Frontiers in Endocrinology
Year: 2024
Reference: Front Endocrinol (Lausanne). 2024 Jul 8;15:1367808. doi: 10.3389/fendo.2024.1367808. eCollection 2024.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Baz-Redon, Noelia; Camats-Tarruella, Nuria; Campos-Martorell, Ariadna; Clemente, Maria; Comas-Armangue, Gemma; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Gonzalez-Llorens, Nuria; Leno-Colorado, Jordi et al.
DOI: 10.3389/fendo.2024.1367808

A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1alpha interaction.

PMID: 39043225
Journal: Open Biology
Year: 2024
Reference: Open Biol. 2024 Jul;14(7):240075. doi: 10.1098/rsob.240075. Epub 2024 Jul 24.
Impact factor:
Publication type: Paper in international publication
Authors: Espanol, Gloria Aparicio; Garcia-Arumi, Elena; Glennie, Lorraine; Lasa-Aranzasti, Amaia; Macartney, Thomas J; Sapkota, Gopal P; Sola, Marta Codina; Tizzano, Eduardo Fidel; Wood, Nicola T; Xuncla, Mar et al.
DOI: 10.1098/rsob.240075

Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.

PMID: 39064047
Journal: Journal of Clinical Medicine
Year: 2024
Reference: J Clin Med. 2024 Jul 9;13(14):4007. doi: 10.3390/jcm13144007.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Carreras, Elena; Castells, Neus; Garcia-Arumi, Elena; Martinez-Cruz, Desiree; Plaja, Alberto; Sanchez, Maria Angeles; Tarraso, Guillermo; Tizzano, Eduardo F; Xuncla, Mar et al.
DOI: 10.3390/jcm13144007

Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.

PMID: 36631979
Journal: MUSCLE & NERVE
Year: 2023
Reference: Muscle Nerve. 2023 Jun;67(6):E22-E24. doi: 10.1002/mus.27788. Epub 2023 Mar 27.
Impact factor:
Publication type: Letter whit IF
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Gratacos-Vinola, Margarida; Juntas-Morales, Raul; Llaurado, Arnau; Raguer, Nuria; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel; Sotoca, Javier et al.
DOI: 10.1002/mus.27788

How to assess early-onset neonatal sepsis? Comparison of three detection strategies.

PMID: 36710085
Journal: ANALES DE PEDIATRIA
Year: 2023
Reference: An Pediatr (Engl Ed). 2023 Feb;98(2):92-98. doi: 10.1016/j.anpede.2022.10.009. Epub 2023 Jan 27.
Impact factor:
Publication type: Paper in international publication
Authors: Camba Longueira, Fatima; Castilla Fernandez, Yolanda; Castillo Salinas, Felix; Cespedes Dominguez, Maria Concepcion; Frick, Maria Antoinette; Montaner Ramon, Alicia; Ribes Bautista, Carmen et al.
DOI: 10.1016/j.anpede.2022.10.009

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

PMID: 36749450
Journal: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
Year: 2023
Reference: J Endocrinol Invest. 2023 Aug;46(8):1673-1684. doi: 10.1007/s40618-023-02026-2. Epub 2023 Feb 7.
Impact factor:
Publication type: Paper in international publication
Authors: Argente, J; Audrain, C; Berkenou, J; Berrade, S; Cueto-Gonzalez, A M; de Nanclares, G P; Dolman, K; Elli, F M; Ertl, D-A; Gleiss, A et al.
DOI: 10.1007/s40618-023-02026-2

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

PMID: 36753892
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2023
Reference: J Neurol Sci. 2023 Mar 15;446:120565. doi: 10.1016/j.jns.2023.120565. Epub 2023 Jan 28.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Paula Fernandez; Arumi, Elena Garcia; Gratacos, Margarida; Hernandez-Vara, Jorge; Juntas, Raul; Lainez, Elena; Llaurado, Arnau; Martinez, Victoria Gonzalez; Raguer, Nuria; Salvado, Maria et al.
DOI: 10.1016/j.jns.2023.120565

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.

PMID: 36140824
Journal: Genes
Year: 2022
Reference: Genes (Basel). 2022 Sep 15;13(9). pii: genes13091657. doi: 10.3390/genes13091657.
Impact factor:
Publication type: Review in international publication
Authors: Blasco-Perez, Laura; Codina-Sola, Marta; Costa-Roger, Mar; Milligan, John N; Tizzano, Eduardo F et al.
DOI: 10.3390/genes13091657

16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

PMID: 36096018
Journal: PARKINSONISM & RELATED DISORDERS
Year: 2022
Reference: Parkinsonism Relat Disord. 2022 Oct;103:112-114. doi: 10.1016/j.parkreldis.2022.08.032. Epub 2022 Sep 7.
Impact factor:
Publication type: Letter or abstract
Authors: Bescos, Agustin; Cazurro-Gutierrez, Ana; Gonzalez, Victoria; Ispierto, Lourdes; Lasa-Aranzasti, Amaia; Macaya-Ruiz, Alfons; Moreno-Galdo, Antonio; Perez-Duenas, Belen; Plaja, Alberto; Tardaguila, Manel et al.
DOI: 10.1016/j.parkreldis.2022.08.032

[Twin gestation with complete hydatidiform mole and a coexisting live fetus: A case report and review of the literature].

PMID: 36075658
Journal: Revista espanola de patologia
Year: 2022
Reference: Rev Esp Patol. 2022 Sep;55 Suppl 1:S21-S26. doi: 10.1016/j.patol.2020.06.008. Epub 2020 Sep 2.
Impact factor:
Publication type: Review in national publication
Authors: Camacho, Jessica; Garcia-Ruiz, Itziar; Garrido-Pontnou, Marta; Madureira, Joana; Moscoso, Olivier; Navarro, Alexandra; Ramon Y Cajal, Santiago; Reques, Armando et al.
DOI: 10.1016/j.patol.2020.06.008

An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature.

PMID: 36011394
Journal: Genes
Year: 2022
Reference: Genes (Basel). 2022 Aug 19;13(8). pii: genes13081483. doi: 10.3390/genes13081483.
Impact factor:
Publication type: Letter or abstract
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Raguer, Nuria; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel; Sotoca, Javier et al.
DOI: 10.3390/genes13081483

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.

PMID: 34500087
Journal: European Journal of Medical Genetics
Year: 2021
Reference: Eur J Med Genet. 2021 Nov;64(11):104338. doi: 10.1016/j.ejmg.2021.104338. Epub 2021 Sep 7.
Impact factor:
Publication type: Review in international publication
Authors: Garcia-Minaur, Sixto; Gonzalez, Anna Ma Cueto; Grondona, Fermina Lopez; Lapunzina, Pablo; Lledin, Maria Dolores; Mansilla, Elena; Mena, Rocio; Menendez Suso, Juan Jose; Montejo, Juan Manuel; Pacio, Marta et al.
DOI: 10.1016/j.ejmg.2021.104338

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

PMID: 34445733
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2021
Reference: Int J Mol Sci. 2021 Aug 21;22(16). pii: ijms22169029. doi: 10.3390/ijms22169029.
Impact factor:
Publication type: Review in international publication
Authors: Blasco-Perez, Laura; Costa-Roger, Mar; Cusco, Ivon; Tizzano, Eduardo F et al.
DOI: 10.3390/ijms22169029

Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.

PMID: 34384546
Journal: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
Year: 2021
Reference: J Am Coll Cardiol. 2021 Aug 17;78(7):643-662. doi: 10.1016/j.jacc.2021.06.016.
Impact factor:
Publication type: Paper in international publication
Authors: Andreini, Daniele; Aquaro, Giovanni D; Barriales-Villa, Roberto; Bayes-Genis, Antoni; Bogaert, Jan; Borregan, Mar; Casas, Guillem; Codina-Sola, Marta; de la Pompa, Jose Luis; Evangelista, Artur et al.
DOI: 10.1016/j.jacc.2021.06.016

Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis.

PMID: 34330959
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 Jul 30;11(1):15511. doi: 10.1038/s41598-021-94798-x.
Impact factor:
Publication type: Paper in international publication
Authors: Barranco, Paula; Calucho, Maite; Fernandez-Alvarez, Paula; Gartner, Silvia; Perez, Raquel Garcia; Tizzano, Eduardo F et al.
DOI: 10.1038/s41598-021-94798-x

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.

PMID: 32867102
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2020
Reference: Int J Mol Sci. 2020 Aug 27;21(17). pii: ijms21176185. doi: 10.3390/ijms21176185.
Impact factor:
Publication type: Paper in international publication
Authors: Camats, Nuria; Di Lorgi, Natascia; Dubey, Shraddha; Fernandez-Alvarez, Paula; Fluck, Christa E; Groessl, Michael; Katharopoulos, Efstathios; Lezzi, Marilea; Maghnie, Mohamad; Napoli, Flavia et al.
DOI: 10.3390/ijms21176185

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

PMID: 32619640
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2020
Reference: J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30.
Impact factor:
Publication type: Paper in international publication
Authors: Armstrong, Judith; Artuch, Rafael; Ayuso, Carmen; Balcells, Susanna; Barbetti, Fabrizio; Beltran, Sergi; Benitez, Javier; Bianchi, Paola; Brice, Alexis; Bullich, Gemma et al.
DOI: 10.1016/j.jmoldx.2020.06.008

Pediatric Soft Tissue Tumors With BCOR ITD Express EGFR but Not OLIG2.

PMID: 32790583
Journal: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Year: 2020
Reference: Pediatr Dev Pathol. 2020 Nov-Dec;23(6):424-430. doi: 10.1177/1093526620945528. Epub 2020 Aug 13.
Impact factor:
Publication type: Paper in international publication
Authors: Alaggio, Rita; Bisogno, Gianni; DeVito, Rita; Donofrio, Vittoria; Garrido, Marta; Kletskaya, Irina; Reyes-Mugica, Miguel; Salgado, Claudia M; Zin, Angelica et al.
DOI: 10.1177/1093526620945528

The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe.

PMID: 32764338
Journal: International Journal of Environmental Research and Public Health
Year: 2020
Reference: Int J Environ Res Public Health. 2020 Aug 5;17(16). pii: ijerph17165640. doi: 10.3390/ijerph17165640.
Impact factor:
Publication type: Paper in international publication
Authors: Aranda-Reneo, Isaac; Durand-Zaleski, Isabelle; Litzkendorf, Svenja; Lopez-Bastida, Julio; Oliva-Moreno, Juan; Pena-Longobardo, Luz Maria; Tizzano, Eduardo et al.
DOI: 10.3390/ijerph17165640

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

PMID: 31413120
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2019
Reference: J Med Genet. 2019 Dec;56(12):801-808. doi: 10.1136/jmedgenet-2019-106080. Epub 2019 Aug 14.
Impact factor:
Publication type: Paper in international publication
Authors: Codina-Sola, Marta; Costa-Roger, Mar; Cusco, Ivon; Flores, Raquel; Palacios-Verdu, Maria Gabriela; Perez-Garcia, Debora; Perez-Jurado, Luis Alberto et al.
DOI: 10.1136/jmedgenet-2019-106080

An Exosomal Urinary miRNA Signature for Early Diagnosis of Renal Fibrosis in Lupus Nephritis.

PMID: 31349698
Journal: Cells
Year: 2019
Reference: Cells. 2019 Jul 25;8(8). pii: cells8080773. doi: 10.3390/cells8080773.
Impact factor:
Publication type: Paper in international publication
Authors: Cortes-Hernandez, Josefina; Moline, Teresa; Ordi-Ros, Josep; Sole, Cristina; Vidal, Marta et al.
DOI: 10.3390/cells8080773

Severe brain involvement in 5q spinal muscular atrophy type 0.

PMID: 31301241
Journal: ANNALS OF NEUROLOGY
Year: 2019
Reference: Ann Neurol. 2019 Sep;86(3):458-462. doi: 10.1002/ana.25549. Epub 2019 Jul 24.
Impact factor:
Publication type: Paper in international publication
Authors: Castiglioni, Claudia; Cusco, Ivon; Diaz, Astry B; Kulikowski, Leslie; Lozano-Arango, Andres; Mendonca, Rodrigo H; Paramonov, Ida; Reed, Umbertina C; Rocha, Antonio J; Silva, Andre M S et al.
DOI: 10.1002/ana.25549

Psychiatric genetic counseling: A mapping exercise.

PMID: 31222934
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Year: 2019
Reference: Am J Med Genet B Neuropsychiatr Genet. 2019 Dec;180(8):523-532. doi: 10.1002/ajmg.b.32735. Epub 2019 Jun 20.
Impact factor:
Publication type: Review in international publication
Authors: Austin, Jehannine C; Coviello, Domenico; Hamang, Anniken; Inglis, Angela; Ingvoldstad Malmgren, Charlotta; Johansson-Soller, Maria; Laing, Nakita; Laurino, Mercy; McGhee, Kevin A; Meiser, Bettina et al.
DOI: 10.1002/ajmg.b.32735

Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.

PMID: 30063981
Journal: CLINICAL IMMUNOLOGY
Year: 2018
Reference: Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Blasco, Laura; Colobran, Roger; Dieli-Crimi, Romina; Dieli-Crimi, Romina; Fernandez, Antoni Alvarez; Franco-Jarava, Clara; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Molero, Xavier et al.
DOI: 10.1016/j.clim.2018.07.015

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.

PMID: 29904179
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2018
Reference: Eur J Hum Genet. 2018 Oct;26(10):1554-1557. doi: 10.1038/s41431-018-0193-4. Epub 2018 Jun 14.
Impact factor:
Publication type: Paper in international publication
Authors: Abuli, Anna; Alias, Laura; Bernal, Sara; Calucho, Maite; Fuentes-Prior, Pablo; Gallano, Pia; March, Francesca; Martinez, Elisabeth; Serra-Juhe, Clara; Tizzano, Eduardo F et al.
DOI: 10.1038/s41431-018-0193-4

Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.

PMID: 29801985
Journal: MOLECULAR GENETICS AND METABOLISM
Year: 2018
Reference: Mol Genet Metab. 2018 Jul;124(3):216-227. doi: 10.1016/j.ymgme.2018.04.013. Epub 2018 Apr 30.
Impact factor:
Publication type: Paper in international publication
Authors: Ceberio-Hualde, L; Del Toro, M; Molto-Abad, M; Morales-Conejo, M; Munoz-Delgado, C; Perez-Lopez, J et al.
DOI: 10.1016/j.ymgme.2018.04.013

Advanced therapies in rare diseases: the example of spinal muscular atrophy as an example.

PMID: 29685310
Journal: MEDICINA CLINICA
Year: 2018
Reference: Med Clin (Barc). 2018 Oct 12;151(7):275-277. doi: 10.1016/j.medcli.2018.03.001. Epub 2018 Apr 21.
Impact factor:
Publication type: Review in national publication
Authors: Tizzano, Eduardo F et al.
DOI: 10.1016/j.medcli.2018.03.001

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

PMID: 29091570
Journal: NEW ENGLAND JOURNAL OF MEDICINE
Year: 2017
Reference: N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.
Impact factor:
Publication type: Paper in international publication
Authors: Adang, Laura; Aguilar, Carla; Al-Ghamdi, Fouad; Alavarez Molinero, Mireia; Allen, Victoria; Alvin, Ho Chi Chung; Anand, Pallavi; Andres, Barbara; Arakawa, Reiko; Ardicli, Didem et al.
DOI: 10.1056/NEJMoa1702752

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain.

PMID: 28821278
Journal: Orphanet Journal of Rare Diseases
Year: 2017
Reference: Orphanet J Rare Dis. 2017 Aug 18;12(1):141. doi: 10.1186/s13023-017-0695-0.
Impact factor:
Publication type: Paper in international publication
Authors: Aranda-Reneo, Isaac; Lopez-Bastida, Julio; Oliva-Moreno, Juan; Pena-Longobardo, Luz Maria; Sefton, Mark; Tizzano, Eduardo et al.
DOI: 10.1186/s13023-017-0695-0

Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study.

PMID: 28786492
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2017
Reference: Dev Med Child Neurol. 2017 Oct;59(10):1071-1076. doi: 10.1111/dmcn.13499. Epub 2017 Aug 8.
Impact factor:
Publication type: Paper in international publication
Authors: Boronat, Susana; Caruso, Paul; Thiele, Elizabeth Anne et al.
DOI: 10.1111/dmcn.13499

Spinal muscular atrophy: A changing phenotype beyond the clinical trials.

PMID: 28757001
Journal: NEUROMUSCULAR DISORDERS
Year: 2017
Reference: Neuromuscul Disord. 2017 Oct;27(10):883-889. doi: 10.1016/j.nmd.2017.05.011. Epub 2017 May 17.
Impact factor:
Publication type: Review in international publication
Authors: Finkel, Richard S; Tizzano, Eduardo F et al.
DOI: 10.1016/j.nmd.2017.05.011

Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status.

PMID: 26603719
Journal: BLOOD CELLS MOLECULES AND DISEASES
Year: 2016
Reference: Blood Cells Mol Dis. 2016 Jan;56(1):23-30. doi: 10.1016/j.bcmd.2015.10.001. Epub 2015 Oct 9.
Impact factor:
Publication type: Paper in international publication
Authors: Bureo, Juan Carlos; de la Puebla, Rafael Fernandez; de la Serna, Javier; Giraldo, Pilar; Luno, Elisa; Nunez, Ramiro; Perez-Lopez, Jordi; Plaza, Sylvia; Saura-Grau, Salvador et al.
DOI: 10.1016/j.bcmd.2015.10.001

Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex.

PMID: 26965910
Journal: PEDIATRIC RADIOLOGY
Year: 2016
Reference: Pediatr Radiol. 2016 May;46(5):689-94. doi: 10.1007/s00247-016-3549-3. Epub 2016 Mar 10.
Impact factor:
Publication type: Paper in international publication
Authors: Barber, Ignasi; Boronat, Susana; Chang, Joshua; Pargaonkar, Vivek; Thiele, Elizabeth A et al.
DOI: 10.1007/s00247-016-3549-3

Hemocyanins Stimulate Innate Immunity by Inducing Different Temporal Patterns of Proinflammatory Cytokine Expression in Macrophages.

PMID: 27183578
Journal: JOURNAL OF IMMUNOLOGY
Year: 2016
Reference: J Immunol. 2016 Jun 1;196(11):4650-62. doi: 10.4049/jimmunol.1501156. Epub 2016 Apr 22.
Impact factor:
Publication type: Paper in international publication
Authors: Arancibia, Sergio; Becker, Maria Ines; Born, Raimundo; Del Campo, Miguel; Manubens, Augusto; Tampe, Ricardo; Villar, Javiera; Zhong, Ta-Ying et al.
DOI: 10.4049/jimmunol.1501156

Genetic Variants Associated with Colorectal Adenoma Susceptibility.

PMID: 27078840
Journal: PLoS One
Year: 2016
Reference: PLoS One. 2016 Apr 14;11(4):e0153084. doi: 10.1371/journal.pone.0153084. eCollection 2016.
Impact factor:
Publication type: Paper in international publication
Authors: Abuli, Anna; Alvarez-Urturi, Cristina; Andreu, Montserrat; Bessa, Xavier; Bujanda, Luis; Buron, Andrea; Castells, Antoni; Castellvi-Bel, Sergi; Esteban-Jurado, Clara; Grau, Jaume et al.
DOI: 10.1371/journal.pone.0153084

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

PMID: 26382598
Journal: CYTOGENET GENOME RES
Year: 2015
Reference: Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18.
Impact factor:
Publication type: Paper in international publication
Authors: Borregan, Mar; Carrio, Anna; Castells, Neus; Cueto-Gonzalez, Anna M; del Campo, Miguel; Izquierdo, Luis; Lloveras, Elisabet; Miro, Rosa; Plaja, Alberto; Rodriguez-Santiago, Benjamin et al.
DOI: 10.1159/000439463

Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region.

PMID: 26974471
Journal: CYTOGENET GENOME RES
Year: 2015
Reference: Cytogenet Genome Res. 2015;147(4):209-11. doi: 10.1159/000444600. Epub 2016 Mar 15.
Impact factor:
Publication type: Paper in international publication
Authors: Barranco, Laura; Cirigliano, Vincenzo; Costa, Marta; Hernando, Cristina; Lloveras, Elisabet; Maiz, Nerea; Ordonez, Elena; Plaja, Alberto; Villa, Olaya et al.
DOI: 10.1159/000444600

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

PMID: 25853300
Journal: EUR J HUM GENET
Year: 2015
Reference: Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8.
Impact factor:
Publication type: Paper in international publication
Authors: Angeles Mori, Maria; Armengol, Lluis; Benedicte, Duban B; Corbacho-Fernandez, Esther; Crespo, M Carmen; de Torres, Maria Luisa; Del Campo, Miguel; Delicado, Alicia; Denenberg, Elizabeth; Devaney, Lani et al.
DOI: 10.1038/ejhg.2015.51

[Guidelines for monitoring late-onset Pompe disease.Sociedad Espanola de Medicina Interna (SEMI), Sociedad Espanola de Neurologia (SEN) y Sociedad Espanola de Neumologia y CirugiaToracica (SEPAR)].

PMID: 25806482
Journal: REV NEUROLOGIA
Year: 2015
Reference: Rev Neurol. 2015 Apr 1;60(7):321-8.
Impact factor:
Publication type: Paper in national publication
Authors: Barrot, Emilia; Bautista-Lorite, Juan; Gutierrez-Rivas, Eduardo; Illa, Isabel; Lopez de Munain, Adolfo; Pascual-Pascual, Samuel I; Perez-Lopez, Jordi; Vilchez-Padilla, Juan J et al.
DOI:

A new overgrowth syndrome is due to mutations in RNF125.

PMID: 25196541
Journal: HUMAN MUTATION
Year: 2014
Reference: Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.
Impact factor:
Publication type: Paper in international publication
Authors: 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: 10.1002/humu.22689

[Imperfect osteogenesis].

PMID: 25015250
Journal: MEDICINA CLINICA
Year: 2014
Reference: Med Clin (Barc). 2014 Dec 23;143(12):e23. doi: 10.1016/j.medcli.2014.05.016. Epub 2014 Jul 9.
Impact factor:
Publication type: Paper in national publication
Authors: Cueto Gonzalez, Ana Maria; de Pablo Marquez, Bernat; May Llanes, Maria Elena; Yela Verdu, Christian et al.
DOI: 10.1016/j.medcli.2014.05.016

Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.

PMID: 25720458
Journal: CYTOGENETIC AND GENOME RESEARCH
Year: 2014
Reference: Cytogenet Genome Res. 2014;144(4):290-3. doi: 10.1159/000375184. Epub 2015 Feb 14.
Impact factor:
Publication type: Paper in international publication
Authors: Castells, Neus; Cueto, Ana; Del Campo, Miguel; Fernandez, Asuncion; Hernando, Cristina; Lloveras, Elisabet; Plaja, Alberto; Vendrell, Teresa; Villa, Olaya et al.
DOI: 10.1159/000375184

"Pregnancy in adult-onset idiopathic inflammatory myopathy": report from a cohort of myositis patients from a single center.

PMID: 24906908
Journal: SEMINARS IN ARTHRITIS AND RHEUMATISM
Year: 2014
Reference: Semin Arthritis Rheum. 2014 Oct;44(2):234-40. doi: 10.1016/j.semarthrit.2014.05.004. Epub 2014 May 9.
Impact factor:
Publication type: Paper in international publication
Authors: Fernandez-Codina, Andreu; Martinez-Gomez, Xavier; Perez-Lopez, Jordi; Pinal-Fernandez, Iago; Rodrigo-Pendas, Jose; Selva-O'Callaghan, Albert; Vilardell-Tarres, Miquel et al.
DOI: 10.1016/j.semarthrit.2014.05.004

Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.

PMID: 23371468
Journal: JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
Year: 2013
Reference: J Cancer Res Clin Oncol. 2013 Mar;139(3):529-32. doi: 10.1007/s00432-013-1385-5. Epub 2013 Feb 1.
Impact factor:
Publication type: Paper in international publication
Authors: Balmana, Judith; Bonache, Sandra; de la Hoya, Miguel; Diez, Orland; Gutierrez-Enriquez, Sara; Masas, Miriam; Tenes, Anna et al.
DOI: 10.1007/s00432-013-1385-5

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID: 23320472
Journal: CLINICAL GENETICS
Year: 2013
Reference: Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.
Impact factor:
Publication type: Paper in international publication
Authors: Anderlid, Britt Marie; Antonarakis, Stylianos E; Arts, Peer; Augello, Bartolomeo; Bhat, Meenakshi; Biamino, Elisa; Bongers, Ernie Mhf; Brunner, Han G; Cordeiro, Isabel; Cueto-Gonzalez, Anna M et al.
DOI: 10.1111/cge.12081

Reversal of Hyperoxaluric Cardiomyopathy With Severe Cardiac Dysfunction After Combined Liver and Kidney Transplantation.

PMID: 23018040
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2013
Reference: Rev Esp Cardiol. 2013 Mar;66(3):224-5. doi: 10.1016/j.recesp.2012.06.028. Epub 2012 Sep 25.
Impact factor:
Publication type: Letter whit IF
Authors: Albert, Dimpna C; Betrian, Pedro; Garrido, Marta; Giralt, Gemma; Girona, Josep; Madrid, Alvaro et al.
DOI: 10.1016/j.recesp.2012.06.028

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

PMID: 23222957
Journal: NATURE GENETICS
Year: 2013
Reference: Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9.
Impact factor:
Publication type: Paper in international publication
Authors: Abbs, Stephen; Al-Kaabi, Salwa; Al-Owain, Mohammed; Bertini, Enrico; Bodi, Istvan; Brandmeier, Birgit; Buk, Stefan; Cullup, Thomas; Del Campo, Miguel; Dionisi-Vici, Carlo et al.
DOI: 10.1038/ng.2497

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy.

PMID: 22465605
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2012
Reference: Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31.
Impact factor:
Publication type: Paper in national publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.recesp.2011.12.016

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.

PMID: 21975797
Journal: HUMAN GENETICS
Year: 2012
Reference: Hum Genet. 2012 Mar;131(3):513-23.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1007/s00439-011-1095-5

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

PMID: 23122587
Journal: AMERICAN JOURNAL OF HUMAN GENETICS
Year: 2012
Reference: Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.
Impact factor: 10.603
Publication type: Paper in international publication
Authors: Schraders, Margit, Ruiz-Palmero, Laura, Kalay, Ersan, Oostrik, Jaap, del Castillo, Francisco J, Sezgin, Orhan, Beynon, Andy J, Strom, Tim M, Pennings, Ronald J E, Seco, Celia Zazo et al.
DOI: 10.1016/j.ajhg.2012.09.012

Contribution of rare copy number variants to isolated human malformations.

PMID: 23056206
Journal: PLoS One
Year: 2012
Reference: PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3.
Impact factor: 4.092
Publication type: Paper in international publication
Authors: Serra-Juhe, Clara, Rodriguez-Santiago, Benjamin, Cusco, Ivon, Vendrell, Teresa, Camats, Nuria, Toran, Nuria, Perez-Jurado, Luis A et al.
DOI: 10.1371/journal.pone.0045530

White hemithorax in children.

PMID: 21553041
Journal: PEDIATRIC RADIOLOGY
Year: 2011
Reference: Pediatr Radiol. 2011 Jul;41(7):916-24. doi: 10.1007/s00247-011-2065-8. Epub 2011 May 7.
Impact factor: 1.499
Publication type: Review in international publication
Authors: Lucaya, Javier, Garces-Inigo, Enrique F, Garcia-Pena, Pilar, Piqueras, Joaquim, Enriquez, Goya et al.
DOI: 10.1007/s00247-011-2065-8

[Mid-aortic syndrome: case studies from a paediatric nephrology department].

PMID: 21398195
Journal: ANALES DE PEDIATRIA
Year: 2011
Reference: An Pediatr (Barc). 2011 Jul;75(1):33-9. doi: 10.1016/j.anpedi.2011.01.026. Epub 2011 Mar 12.
Impact factor: 0.57
Publication type: Letter or abstract
Authors: Chocron de Benzaquen, S, Munoz Lopez, M, Madrid Aris, A D, Castellote Alonso, A, Enriquez, G, Nieto Rey, J L et al.
DOI: 10.1016/j.anpedi.2011.01.026

Side effects of oncologic therapies in the pediatric central nervous system: update on neuroimaging findings.

PMID: 21768243
Journal: RADIOGRAPHICS
Year: 2011
Reference: Radiographics. 2011 Jul-Aug;31(4):1123-39. doi: 10.1148/rg.314105180.
Impact factor: 2.76
Publication type: Review in international publication
Authors: Vazquez, Elida, Delgado, Ignacio, Sanchez-Montanez, Angel, Barber, Ignasi, Sanchez-Toledo, Jose, Enriquez, Goya et al.
DOI: 10.1148/rg.314105180

Correlation between US and MRI for prenatal lung volumetry in diaphragmatic hernia, and use of Doppler to identify the ipsilateral lung cap.

PMID: 21938506
Journal: PEDIATRIC RADIOLOGY
Year: 2011
Reference: Pediatr Radiol. 2011 Dec;41(12):1569-77. Epub 2011 Sep 22.
Impact factor: 1.499
Publication type: Paper in international publication
Authors: Castellote, Amparo, Mencho, Sandra, Carreras, Elena, Higueras, Teresa, Cadavid, Lina, Piqueras, Joaquim, Enriquez, Goya et al.
DOI: 10.1007/s00247-011-2200-6

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development.

PMID: 20150575
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2010
Reference: J Clin Endocrinol Metab. 2010 Apr;95(4):1876-88. Epub 2010 Feb 11.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1210/jc.2009-2146

[Immediate care consultation. An experience of three years.]

PMID: 20144804
Journal: REVISTA CLINICA ESPANOLA
Year: 2010
Reference: Rev Clin Esp. 2010 Jan;210(1):55-56. Epub 2010 Jan 9.
Impact factor:
Publication type: Letter or abstract
Authors: ; ; ; et al.
DOI: 10.1016/j.rce.2009.02.001

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer.

PMID: 19649703
Journal: BREAST CANCER RESEARCH AND TREATMENT
Year: 2010
Reference: Breast Cancer Res Treat. 2010 May;121(1):221-5. Epub 2009 Aug 1.
Impact factor: 4.696
Publication type: Paper in international publication
Authors: Diez, Orland, Gutierrez-Enriquez, Sara, Mediano, Carmen, Masas, Miriam, Saura, Cristina, Gadea, Neus, Balmana, Judith et al.
DOI: 10.1007/s10549-009-0494-y

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

PMID: 20503313
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2010
Reference: Am J Med Genet A. 2010 Jun;152A(6):1390-7.
Impact factor: 2.404
Publication type: Paper in international publication
Authors: Romanelli, Valeria, Belinchon, Alberta, Benito-Sanz, Sara, Martinez-Glez, Victor, Gracia-Bouthelier, Ricardo, Heath, Karen E, Campos-Barros, Angel, Garcia-Minaur, Sixto, Fernandez, Luis, Meneses, Heloisa et al.
DOI: 10.1002/ajmg.a.33453

Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.

PMID: 19350654
Journal: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
Year: 2009
Reference: Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):695-9.
Impact factor: 2.17
Publication type: Paper in international publication
Authors: Robinson, Luther K, Jones, Kenneth Lyons, Hoyme, H Eugene, Bakhireva, Ludmila N, Prewitt, Lela M, Chambers, Christina D, Manning, Melanie A, del Campo, Miguel et al.
DOI: 10.1002/bdra.20585

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

PMID: 19246517
Journal: HUMAN MOLECULAR GENETICS
Year: 2009
Reference: Hum Mol Genet. 2009 May 15;18(10):1795-804.
Impact factor: 7.249
Publication type: Paper in international publication
Authors: Medrano, Andres, Gener, Blanca, Vilardell, Mireia, Gallastegui, Fatima, Villa, Olaya, Gonzalez, Eva, Rodriguez-Santiago, Benjamin, Vilella, Elisabet, Del Campo, Miguel, Perez-Jurado, Luis A et al.
DOI: 10.1093/hmg/ddp092

Low-dose pioglitazone and low-dose flutamide added to metformin and oestro-progestagens for hyperinsulinaemic women with androgen excess: add-on benefits disclosed by a randomized double-placebo study over 24 months.

PMID: 19018783
Journal: CLINICAL ENDOCRINOLOGY
Year: 2009
Reference: Clin Endocrinol (Oxf). 2009 Sep;71(3):351-7.
Impact factor: 3.398
Publication type: Paper in international publication
Authors: Ibanez, Lourdes, Lopez-Bermejo, Abel, Diaz, Marta, Enriquez, Goya, del Rio, Luis, de Zegher, Francis et al.
DOI: 10.1111/j.1365-2265.2008.03472.x

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