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Growth and Development

Our group is dedicated to paediatric research. We are interested in rare respiratory and endocrinological diseases, and also in common paediatric problems such as normal growth, asthma, neonatal pathology and imaging diagnosis, as well as minority diseases. Our goal is to transfer the findings of clinical and genetic studies to the widespread clinical practice and the general population, with the long-term objective of obtaining better diagnoses, implementing better therapeutic practices and improving the health of children.

Our group is part of CIBERER (Biomedical Research Networking Centre on Rare Diseases) (CIBERER U712) and European Reference Networks (ERN) for rare diseases ERN LUNG and Endo-ERN.

Publications

Cost-effectiveness of omalizumab for the treatment of severe pediatric allergic asthma-Results of a real-life study in Spain.

PMID: 37102393
Journal: PEDIATRIC ALLERGY AND IMMUNOLOGY
Year: 2023
Reference: Pediatr Allergy Immunol. 2023 Apr;34(4):e13942. doi: 10.1111/pai.13942.
Impact factor:
Publication type: Paper in international publication
Authors: Andres-Martin, Anselmo; Ballester-Asensio, Esther; Batlles-Garrido, Jose; Bosque-Garcia, Montse; Caballero-Rabasco, M feminine Araceli; Campos-Alonso, Elena; de Atauri, Alvaro Gimeno-Diaz; de Mir-Messa, Ines; Del Mar Folque-Gimenez, M feminine; Del Rio-Camacho, Genoveva et al.
DOI: 10.1111/pai.13942

New-onset heart failure in infants: when the aetiological diagnosis becomes a challenge.

PMID: 37843615
Journal: EUROPEAN JOURNAL OF PEDIATRICS
Year: 2023
Reference: Eur J Pediatr. 2023 Oct 16. doi: 10.1007/s00431-023-05286-5.
Impact factor:
Publication type: Paper in international publication
Authors: Adriaansen, Bas P H; Ahmed, S Faisal; Ali, Salma R; Amr, Nermine Hussein; Bachega, Tania A S S; Baronio, Federico; Birkebaek, Niels Holtum; Bonfig, Walter; Bryce, Jillian; Claahsen-van der Grinten, Hedi L et al.
DOI: 10.1007/s00431-023-05286-5

Impact of hepatitis D reflex testing on the future disease burden: A modelling analysis.

PMID: 37916574
Journal: LIVER INTERNATIONAL
Year: 2023
Reference: Liver Int. 2023 Nov 2. doi: 10.1111/liv.15776.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilar-Riera, Cristina; Aguilar-Riera, Cristina; Biagetti, Betina; Buti, Maria; Campos-Martorell, Ariadna; Casado, Miguel Angel; Clemente, Maria; Dominguez-Hernandez, Raquel; Esteban, Rafael; Fabregas, Anna et al.
DOI: 10.1111/liv.15776

Correction: Efficacy and safety assessment of different dosage of benznidazol for the treatment of Chagas disease in chronic phase in adults (MULTIBENZ study): study protocol for a multicenter randomized Phase II non-inferiority clinical trial.

PMID: 37964376
Journal: Trials
Year: 2023
Reference: Trials. 2023 Nov 14;24(1):726. doi: 10.1186/s13063-023-07659-5.
Impact factor:
Publication type: Other (letters to the editor, abstracts, corrigendum, etc.)
Authors: Abdulai, Raolat M; Abdulai, Raolat M; Akinlade, Bolanle; Akinlade, Bolanle; Bacharier, Leonard B; Bacharier, Leonard B; Bangher, M; Bosch-Nicolau, P; Correa-Oliveira, R; de Mir, Ines et al.
DOI: 10.1186/s13063-023-07659-5

Development of Lung Function in Preterm Infants During the First Two Years of Life.

PMID: 35312587
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2022
Reference: Arch Bronconeumol. 2022 Mar;58(3):237-245. doi: 10.1016/j.arbres.2021.07.007. Epub 2021 Jul 27.
Impact factor:
Publication type: Paper in national publication
Authors: Caballero-Rabasco, Araceli; Corcuera-Elosegui, Paula; de-Mir-Messa, Ines; Hoo, Ah-Fong; Korta-Murua, Javier; Moreno-Galdo, Antonio; Perez-Fernandez, Virginia; Perez-Yarza, Eduardo G; Sanchez-Solis, Manuel; Sardon-Prado, Olaia et al.
DOI: 10.1016/j.arbres.2021.07.007

Incidence and Prevalence of Children's Diffuse Lung Disease in Spain.

PMID: 35249699
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2022
Reference: Arch Bronconeumol. 2022 Jan;58(1):22-29. doi: 10.1016/j.arbres.2021.06.001. Epub 2021 Jun 17.
Impact factor:
Publication type: Paper in national publication
Authors: Ayats, Roser; Baz-Redon, Noelia; Bellon Alonso, Sara; Camats-Tarruella, Nuria; Canino Calderin, Elisa Maria; Carmona, Rosario; Caro Aguilera, Pilar; Castillo-Corullon, Silvia; Costa-Colomer, Jordi; de la Serna-Blazquez, Olga et al.
DOI: 10.1016/j.arbres.2021.06.001

Epigenetic regulation of inflammation by microRNAs in post-infectious bronchiolitis obliterans.

PMID: 35228871
Journal: Clinical & Translational Immunology
Year: 2022
Reference: Clin Transl Immunology. 2022 Feb 21;11(2):e1376. doi: 10.1002/cti2.1376. eCollection 2022.
Impact factor:
Publication type: Paper in international publication
Authors: De Mir Messa, Ines; Duecker, Ruth P; Geburtig-Chiocchetti, Andreas; Gottwald, Gabriele; Gronau, Lucia; Jerkic, Silvija-Pera; Kochems, Annalena; Kreyenberg, Hermann; Moreno-Galdo, Antonio; Rosewich, Martin et al.
DOI: 10.1002/cti2.1376

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe.

PMID: 35235536
Journal: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Year: 2022
Reference: Eur J Endocrinol. 2022 Mar 23;186(5):K17-K24. doi: 10.1530/EJE-21-0554.
Impact factor:
Publication type: Paper in international publication
Authors: Ahmed, S Faisal; Baronio, Federico; Battelino, Tadej; Bertherat, Jerome; Blankenstein, Oliver; Bonomi, Marco; Bouvattier, Claire; Brac de la Perriere, Aude; Brucker, Sara; Cappa, Marco et al.
DOI: 10.1530/EJE-21-0554

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl- tRNA synthetase genes: look beyond the lungs!

PMID: 33598926
Journal: CLINICAL GENETICS
Year: 2021
Reference: Clin Genet. 2021 Jun;99(6):789-801. doi: 10.1111/cge.13943. Epub 2021 Feb 28.
Impact factor:
Publication type: Paper in international publication
Authors: Brasch, Frank; Delhommel, Florent; Emiralioglu, Nagehan; Forstner, Maria; Gerstlauer, Michael; Griese, Matthias; Hastreiter, Maximilian; Jeske, Tim; Kammer, Birgit; Kiper, Nural et al.
DOI: 10.1111/cge.13943

Reduced hippocampal subfield volumes and memory performance in preterm children with and without germinal matrix-intraventricular hemorrhage.

PMID: 33510243
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 Jan 28;11(1):2420. doi: 10.1038/s41598-021-81802-7.
Impact factor:
Publication type: Paper in international publication
Authors: Delgado, Ignacio; Fernandez de Gamarra-Oca, Lexuri; Junque, Carme; Macaya, Alfons; Ojeda, Natalia; Poca, Maria A; Solana, Elisabeth; Soria-Pastor, Sara; Vazquez, Elida; Zubiaurre-Elorza, Leire et al.
DOI: 10.1038/s41598-021-81802-7

Severe COVID-19 during pregnancy and the subsequent premature delivery.

PMID: 33039313
Journal: Pediatrics and Neonatology
Year: 2021
Reference: Pediatr Neonatol. 2021 Jan;62(1):113-114. doi: 10.1016/j.pedneo.2020.09.005. Epub 2020 Sep 19.
Impact factor:
Publication type: Paper in international publication
Authors: Camba-Longueira, Fatima; Castillo-Salinas, Felix; Fernandez-Garcia, Cristina; Frick, Marie Antoinette; Hernandez-Perez, Susana; Montaner-Ramon, Alicia; Ribes-Bautista, Carmen et al.
DOI: 10.1016/j.pedneo.2020.09.005

Smartphone and Tablet Usage during COVID-19 Pandemic Confinement in Children under 48 Months in Barcelona (Spain).

PMID: 33477770
Journal: Healthcare
Year: 2021
Reference: Healthcare (Basel). 2021 Jan 19;9(1). pii: healthcare9010096. doi: 10.3390/healthcare9010096.
Impact factor:
Publication type: Paper in international publication
Authors: Balaguer, Albert; Cartanya-Hueso, Aurea; Cassanello, Pia; Diez-Izquierdo, Ana; Lidon-Moyano, Cristina; Martin-Sanchez, Juan Carlos; Martinez-Sanchez, Jose M et al.
DOI: 10.3390/healthcare9010096

Less Invasive Surfactant Administration in Spain: A Survey Regarding Its Practice, the Target Population, and Premedication Use.

PMID: 30716788
Journal: AMERICAN JOURNAL OF PERINATOLOGY
Year: 2020
Reference: Am J Perinatol. 2020 Feb;37(3):277-280. doi: 10.1055/s-0039-1678534. Epub 2019 Feb 4.
Impact factor:
Publication type: Paper in international publication
Authors: Boix, Hector; Camba, Fatima; Castillo, Felix; Comunas, Juan Jose; Fernandez, Cristina et al.
DOI: 10.1055/s-0039-1678534

[Graves disease with negative TSH receptor antibodies: A presentation of 5 cases].

PMID: 32094085
Journal: ANALES DE PEDIATRIA
Year: 2020
Reference: An Pediatr (Barc). 2020 Dec;93(6):417-419. doi: 10.1016/j.anpedi.2020.01.008. Epub 2020 Feb 21.
Impact factor:
Publication type: Letter whit IF
Authors: Clemente Leon, Maria; Ferrer Costa, Roser; Puerto Carranza, Elsa; Pujol Borrell, Ricard; Scatti Regas, Aina et al.
DOI: 10.1016/j.anpedi.2020.01.008

Molecular basis of CYP19A1 deficiency in a 46, XX patient with R550W mutation in POR: Expanding the PORD phenotype.

PMID: 32060549
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2020
Reference: J Clin Endocrinol Metab. 2020 Apr 1;105(4). pii: 5736381. doi: 10.1210/clinem/dgaa076.
Impact factor:
Publication type: Paper in international publication
Authors: Audi, Laura; Benito-Sanz, Sara; Camats, Nuria; Fernandez-Cancio, Monica; Fluck, Christa E; Kagawa, Norio; Lopez-Siguero, Juan-Pedro; Pandey, Amit V; Parween, Shaheena; Udhane, Sameer S et al.
DOI: 10.1210/clinem/dgaa076

Recurrent Wheezing During the First 3 Years of Life in a Birth Cohort of Moderate-to-Late Preterm Infants.

PMID: 31597224
Journal: PEDIATRIC ALLERGY AND IMMUNOLOGY
Year: 2020
Reference: Pediatr Allergy Immunol. 2020 Feb;31(2):124-132. doi: 10.1111/pai.13134. Epub 2019 Nov 13.
Impact factor:
Publication type: Paper in international publication
Authors: Aldasoro, A; Barrio, Maria Isabel; Batlles-Garrido Y Y Gonzalez-Gimenez, J; Bosch, J; Corcuera Y J Korta, P; Cortell, Isidoro; Escribano, Amparo; Figuerola, Joan; Garcia-Hernandez, Gloria; Gomez-Acebo, Francisca et al.
DOI: 10.1111/pai.13134

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

PMID: 31681265
Journal: Frontiers in Immunology
Year: 2019
Reference: Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019.
Impact factor: 4.716
Publication type: Paper in international publication
Authors: Rudilla, Francesc, Franco-Jarava, Clara, Martinez-Gallo, Monica, Garcia-Prat, Marina, Martin-Nalda, Andrea, Riviere, Jacques, Aguilo-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier et al.
DOI: 10.3389/fimmu.2019.02325

Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?

PMID: 31365591
Journal: PLoS One
Year: 2019
Reference: PLoS One. 2019 Jul 31;14(7):e0220634. doi: 10.1371/journal.pone.0220634. eCollection 2019.
Impact factor: 2.776
Publication type: Paper in international publication
Authors: Urrutia, Ines, Martinez, Rosa, Rica, Itxaso, Martinez de LaPiscina, Idoia, Garcia-Castano, Alejandro, Aguayo, Anibal, Calvo, Begona, Castano, Luis, Campos Martorell, Ariadna, Clemente Leon, Maria et al.
DOI: 10.1371/journal.pone.0220634

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.

PMID: 31555317
Journal: Frontiers in Genetics
Year: 2019
Reference: Front Genet. 2019 Aug 29;10:746. doi: 10.3389/fgene.2019.00746. eCollection 2019.
Impact factor: 3.517
Publication type: Paper in international publication
Authors: Fluck, Christa E, Audi, Laura, Fernandez-Cancio, Monica, Sauter, Kay-Sara, Martinez de LaPiscina, Idoia, Castano, Luis, Esteva, Isabel, Camats, Nuria et al.
DOI: 10.3389/fgene.2019.00746

Multicenter prospective clinical study to evaluate children short-term neurodevelopmental outcome in congenital heart disease (children NEURO-HEART): study protocol.

PMID: 31506079
Journal: BMC Pediatrics
Year: 2019
Reference: BMC Pediatr. 2019 Sep 10;19(1):326. doi: 10.1186/s12887-019-1689-y.
Impact factor: 1.983
Publication type: Paper in international publication
Authors: Bartha, J M, Galindo, A, Martinez, J M, Gomez-Roig, L, Crispi, F, Gomez, O, Carreras, E, Cabero, L, Gratacos, E, Llurba, E et al.
DOI: 10.1186/s12887-019-1689-y

Invasive Pulmonary Fungal Infections in Cystic Fibrosis.

PMID: 28864921
Journal: MYCOPATHOLOGIA
Year: 2018
Reference: Mycopathologia. 2018 Feb;183(1):33-43. doi: 10.1007/s11046-017-0199-4. Epub 2017 Sep 1.
Impact factor:
Publication type: Paper in international publication
Authors: Brandt, Claudia; Gartner, Silvia; Rohmel, Jobst F; Schwarz, Carsten; Skopnik, Heino; Smazny, Christina; Sutharsan, Sivagurunathan; Whitaker, Paul et al.
DOI: 10.1007/s11046-017-0199-4

Progress in Definition, Prevention and Treatment of Fungal Infections in Cystic Fibrosis.

PMID: 28762125
Journal: MYCOPATHOLOGIA
Year: 2018
Reference: Mycopathologia. 2018 Feb;183(1):21-32. doi: 10.1007/s11046-017-0182-0. Epub 2017 Jul 31.
Impact factor:
Publication type: Review in national publication
Authors: Barry, Peter James; Benden, Christian; Durieu, Isabelle; Eickmeier, Olaf; Gartner, Silvia; Hartl, Dominik; Hector, Andreas; Milla, Carlos E; Schwarz, Carsten; Sole, Amparo et al.
DOI: 10.1007/s11046-017-0182-0

Oral glucose tolerance test and continuous glucose monitoring to assess diabetes development in cystic fibrosis patients.

PMID: 29137964
Journal: Endocrinologia, diabetes y nutricion
Year: 2018
Reference: Endocrinol Diabetes Nutr. 2018 Jan;65(1):45-51. doi: 10.1016/j.endinu.2017.08.008. Epub 2017 Nov 12.
Impact factor:
Publication type: Paper in national publication
Authors: Bilbao Gasso, Laura; Campos Martorrell, Ariadna; Carrascosa Lezcano, Antonio; Clemente Leon, Maria; Gartner Tizzano, Silvia; Moreno-Galdo, Antonio; Yeste Fernandez, Diego et al.
DOI: 10.1016/j.endinu.2017.08.008

Transient hyperandrogenism in 2 preterm twins with exposure to antiretrovirals.

PMID: 28864089
Journal: MEDICINA CLINICA
Year: 2018
Reference: Med Clin (Barc). 2018 Jan 23;150(2):81-82. doi: 10.1016/j.medcli.2017.07.005. Epub 2017 Aug 31.
Impact factor:
Publication type: Paper in national publication
Authors: Audi, Laura; Falcon-Neyra, Lola; Garcia Garcia, Emilio et al.
DOI: 10.1016/j.medcli.2017.07.005

[Plasma 25-OH Vitamin D Concentrations in Cord Blood after Summer Months, Spain].

PMID: 28124681
Journal: Revista Espanola de Salud Publica
Year: 2017
Reference: Rev Esp Salud Publica. 2017 Jan 25;91. pii: e201701009.
Impact factor:
Publication type: Paper in national publication
Authors: Carrascosa Lezcano, Antonio; Ferrer Costa, Roser; Garcia-Algar, Oscar; Manzano Varo, Cristina; Mur Sierra, Antonio; Ortigosa Gomez, Sandra; Yeste Fernandez, Diego et al.
DOI:

Diagnosis of Cystic Fibrosis in Screened Populations.

PMID: 28129810
Journal: JOURNAL OF PEDIATRICS
Year: 2017
Reference: J Pediatr. 2017 Feb;181S:S33-S44.e2. doi: 10.1016/j.jpeds.2016.09.065.
Impact factor:
Publication type: Clinical guide
Authors: Accurso, Frank J; Blau, Hannah; Davies, Jane C; Farrell, Philip M; Gartner, Silvia; Howenstine, Michelle S; McColley, Susanna A; Munck, Anne; Parad, Richard B; Rock, Michael J et al.
DOI: 10.1016/j.jpeds.2016.09.065

[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].

PMID: 28161392
Journal: ANALES DE PEDIATRIA
Year: 2017
Reference: An Pediatr (Barc). 2017 Aug;87(2):116.e1-116.e10. doi: 10.1016/j.anpedi.2016.12.002. Epub 2017 Feb 1.
Impact factor:
Publication type: Paper in national publication
Authors: Clemente, Maria; Escribano, Aranzazu; Espino, Rafael; Ezquieta, Begona; Labarta, Jose Igancio; Rodriguez, Amaia; Rodriguez, Amparo et al.
DOI: 10.1016/j.anpedi.2016.12.002

Safety and efficacy of the C-Tb skin test to diagnose Mycobacterium tuberculosis infection, compared with an interferon gamma release assay and the tuberculin skin test: a phase 3, double-blind, randomised, controlled trial.

PMID: 28159608
Journal: Lancet Respiratory Medicine
Year: 2017
Reference: Lancet Respir Med. 2017 Apr;5(4):259-268. doi: 10.1016/S2213-2600(16)30436-2. Epub 2017 Feb 1.
Impact factor:
Publication type: Paper in international publication
Authors: Aggerbeck, Henrik; Andersen, Peter; Anibarro, Luis L; Borregaard, Bettine; Cayla, Joan A; Cobos, Nazaret; de Souza-Galvao, Maria Luiza; Fernandez, Virginia Leiro; Gallardo, Rafael Vazquez; Hoff, Soren T et al.
DOI: 10.1016/S2213-2600(16)30436-2

[Guidelines for the follow up of patients with bronchopulmonary dysplasia].

PMID: 26089228
Journal: ANALES DE PEDIATRIA
Year: 2016
Reference: An Pediatr (Barc). 2016 Jan;84(1):61.e1-9. doi: 10.1016/j.anpedi.2015.04.020. Epub 2015 Jun 15.
Impact factor: 0.773
Publication type: Paper in national publication
Authors: Vilella Sabate, M, Valdesoiro Navarrete, L, Sanchez Solis de Querol, M, Perez Tarazona, S, Rueda Esteban, S, Alfonso Diego, J, Barrio Gomez de Aguero, M I, Callejon Callejon, A, Cortell Aznar, I, de la Serna Blazquez, O et al.
DOI: 10.1016/j.anpedi.2015.04.020

Measuring intellectual ability in cerebral palsy: The comparison of three tests and their neuroimaging correlates.

PMID: 27262445
Journal: RESEARCH IN DEVELOPMENTAL DISABILITIES
Year: 2016
Reference: Res Dev Disabil. 2016 Sep;56:83-98. doi: 10.1016/j.ridd.2016.04.009. Epub 2016 Jun 2.
Impact factor: 1.877
Publication type: Paper in international publication
Authors: Ballester-Plane, Julia, Laporta-Hoyos, Olga, Macaya, Alfons, Poo, Pilar, Melendez-Plumed, Mar, Vazquez, Elida, Delgado, Ignacio, Zubiaurre-Elorza, Leire, Narberhaus, Ana, Toro-Tamargo, Esther et al.
DOI: 10.1016/j.ridd.2016.04.009

Metabolic Syndrome in Children and Adolescents Living with HIV.

PMID: 26910591
Journal: PEDIATRIC INFECTIOUS DISEASE JOURNAL
Year: 2016
Reference: Pediatr Infect Dis J. 2016 Jun;35(6):e171-6. doi: 10.1097/INF.0000000000001118.
Impact factor: 2.587
Publication type: Paper in international publication
Authors: Espiau, Maria, Gonzalez-Tome, Maria I, Falcon-Neyra, Lola, Gavilan, Cesar, Navarro-Gomez, Maria L, Mellado-Pena, Maria J, Gracia-Casanova, Mercedes, Colino-Gil, Maria E, Mendez, Maria, Ciria Calavia, Luis M et al.
DOI: 10.1097/INF.0000000000001118

Eradication failure of newly acquired Pseudomonas aeruginosa isolates in cystic fibrosis.

PMID: 27143583
Journal: Journal of Cystic Fibrosis
Year: 2016
Reference: J Cyst Fibros. 2016 Nov;15(6):776-782. doi: 10.1016/j.jcf.2016.04.006. Epub 2016 May 1.
Impact factor: 3.853
Publication type: Paper in international publication
Authors: Cohen-Cymberknoh, Malena, Gilead, Noa, Gartner, Silvia, Rovira, Sandra, Blau, Hannah, Mussaffi, Huda, Rivlin, Joseph, Gur, Michal, Shteinberg, Michal, Bentur, Lea et al.
DOI: 10.1016/j.jcf.2016.04.006

Feasibility and technical features of fetal brain magnetic resonance spectroscopy in 1.5 T scanners.

PMID: 26116100
Journal: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
Year: 2015
Reference: Am J Obstet Gynecol. 2015 Nov;213(5):741-2. doi: 10.1016/j.ajog.2015.06.033. Epub 2015 Jun 23.
Impact factor: 4.704
Publication type: Letter or abstract
Authors: Simoes, Rui V, Sanz-Cortes, Magdalena, Munoz-Moreno, Emma, Gratacos, Eduard, Vazquez, Elida, Bargallo, Nuria, Fernandez-Zubillaga, Amelia et al.
DOI: 10.1016/j.ajog.2015.06.033

[Recommendations for respiratory support in the newborn (iii). Surfactant and nitric oxide].

PMID: 25840706
Journal: ANALES DE PEDIATRIA
Year: 2015
Reference: An Pediatr (Barc). 2015 Nov;83(5):354.e1-6. doi: 10.1016/j.anpedi.2015.02.012. Epub 2015 Apr 1.
Impact factor: 0.833
Publication type: Paper in national publication
Authors: Elorza Fernandez, D, Castillo Salinas, F, Bustos Lozano, G, Gresa Munoz, M, Lopez de Heredia Goya, J, Aguar Carrascosa, M, Miracle Echegoyen, X, Fernandez Lorenzo, J R, Serrano, M M, Concheiro Guisan, A et al.
DOI: 10.1016/j.anpedi.2015.02.012

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.

PMID: 26580071
Journal: PLoS One
Year: 2015
Reference: PLoS One. 2015 Nov 16;10(11):e0142831. doi: 10.1371/journal.pone.0142831. eCollection 2015.
Impact factor: 3.234
Publication type: Paper in international publication
Authors: Camats, Nuria, Fernandez-Cancio, Monica, Audi, Laura, Mullis, Primus E, Moreno, Francisca, Gonzalez Casado, Isabel, Lopez-Siguero, Juan Pedro, Corripio, Raquel, Bermudez de la Vega, Jose Antonio, Blanco, Jose Antonio et al.
DOI: 10.1371/journal.pone.0142831

[Recurrent meningitis due to anatomical defects: The bacteria indicates its origin.]

PMID: 25446794
Journal: ANALES DE PEDIATRIA
Year: 2015
Reference: An Pediatr (Barc). 2015 Jun;82(6):388-96. doi: 10.1016/j.anpedi.2014.09.008. Epub 2014 Oct 29.
Impact factor: 0.722
Publication type: Paper in national publication
Authors: Morgenstern Isaak, A, Bach Faig, A, Martinez, S, Martin-Nalda, A, Vazquez Mendez, E, Pumarola Segura, F, Soler-Palacin, P et al.
DOI: 10.1016/j.anpedi.2014.09.008

Growth hormone deficiency: an update.

PMID: 23435439
Journal: Minerva Endocrinologica
Year: 2013
Reference: Minerva Endocrinol. 2013 Mar;38(1):1-16.
Impact factor: 1.396
Publication type: Review in international publication
Authors: Audi, L, Fernandez-Cancio, M, Camats, N, Carrascosa, A et al.
DOI:

Brainstem dysgenesis during the neonatal period: diagnosis and management.

PMID: 23348216
Journal: JOURNAL OF PERINATAL MEDICINE
Year: 2013
Reference: J Perinat Med. 2013 Jul;41(4):445-53. doi: 10.1515/jpm-2012-0261.
Impact factor: 1.949
Publication type: Paper in international publication
Authors: Castilla-Fernandez, Yolanda, Boix, Hector, Macaya, Alfons, Vazquez, Elida, Gratacos, Margarida, Roig-Quilis, Manuel et al.
DOI: 10.1515/jpm-2012-0261

Usefulness and Limitations of Sequential Serum Tryptase for the Diagnosis of Anaphylaxis in 102 Patients.

PMID: 23018683
Journal: INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY
Year: 2013
Reference: Int Arch Allergy Immunol. 2013;160(2):192-9. doi: 10.1159/000339749. Epub 2012 Sep 25.
Impact factor: 2.248
Publication type: Paper in international publication
Authors: Sala-Cunill, Anna, Cardona, Victoria, Labrador-Horrillo, Moises, Luengo, Olga, Esteso, Olga, Garriga, Teresa, Vicario, Maria, Guilarte, Mar et al.
DOI: 10.1159/000339749

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.

PMID: 22738321
Journal: CLINICAL ENDOCRINOLOGY
Year: 2013
Reference: Clin Endocrinol (Oxf). 2013 Feb;78(2):255-62. doi: 10.1111/j.1365-2265.2012.04481.x.
Impact factor: 3.396
Publication type: Paper in international publication
Authors: , , , , , , , , , et al.
DOI: 10.1111/j.1365-2265.2012.04481.x

SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.

PMID: 21631525
Journal: INTERNATIONAL JOURNAL OF ANDROLOGY
Year: 2011
Reference: Int J Androl. 2011 Dec;34(6 Pt 2):e526-35. doi: 10.1111/j.1365-2605.2010.01136.x. Epub 2011 Jun 2.
Impact factor: 3.601
Publication type: Paper in international publication
Authors: , , , , , , , , , et al.
DOI: 10.1111/j.1365-2605.2010.01136.x

[Obesity-related metabolic disorders in childhood and adolescence.]

PMID: 21571600
Journal: ANALES DE PEDIATRIA
Year: 2011
Reference: An Pediatr (Barc). 2011 Aug;75(2):135.e1-9. Epub 2011 May 14.
Impact factor: 0.57
Publication type: Paper in national publication
Authors: , et al.
DOI: 10.1016/j.anpedi.2011.03.025

Macroorchidism and Panhypopituitarism: Two Different Forms of Presentation of FSH-Secreting Pituitary Adenomas in Adolescence.

PMID: 21196695
Journal: HORMONE RESEARCH
Year: 2011
Reference: Horm Res Paediatr. 2011;75(3):225-30. Epub 2010 Dec 23.
Impact factor: 2.044
Publication type: Paper in international publication
Authors: , , , , , , , et al.
DOI: 10.1159/000322211

Growth Hormone Secretory Status Evaluated by Growth Hormone Peak after Two Pharmacological Growth Hormone Release Stimuli Did Not Significantly Influence the Two-Year Catch-Up Growth Induced by Growth Hormone Therapy in 318 Prepubertal Short Children with Idiopathic Growth Retardation.

PMID: 20975249
Journal: HORMONE RESEARCH
Year: 2011
Reference: Horm Res Paediatr. 2011;75(2):106-14. Epub 2010 Oct 23.
Impact factor: 2.044
Publication type: Paper in international publication
Authors: , , , , , , , , , et al.
DOI: 10.1159/000318782

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The study, in which Vall d'Hebron participates, helps to understand the variability among patients with retinitis pigmentosa.

Es va reconèixer la tasca de més de 70 professionals dedicades a aquesta malaltia pulmonar, tant assistencial com de recerca.

The two studies awarded has been the research for a the ciliary dyskinesia diagnosis led by the VHIR’s Growth and Development Group and the EPISCAN II, in which Dr. Miravitlles has participated.