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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.

Team

Mireya Torres Moliner

Mireya Torres Moliner

Predoctoral researcher
Growth and Development
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Mónica Fernández Cancio

Mónica Fernández Cancio

Senior researcher
Growth and Development
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Nuria  Servalls Rozas

Nuria Servalls Rozas

Growth and Development
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Rocio  Lecegui  Alfonso

Rocio Lecegui Alfonso

Administration and Management
Growth and Development
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SILVIA GARTNER TIZZANO

SILVIA GARTNER TIZZANO

Main researcher
Growth and Development
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Mireya Torres Moliner

Mireya Torres Moliner

Predoctoral researcher
Growth and Development
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Mónica Fernández Cancio

Mónica Fernández Cancio

Senior researcher
Growth and Development
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Nuria  Servalls Rozas

Nuria Servalls Rozas

Growth and Development
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Rocio  Lecegui  Alfonso

Rocio Lecegui Alfonso

Administration and Management
Growth and Development
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SILVIA GARTNER TIZZANO

SILVIA GARTNER TIZZANO

Main researcher
Growth and Development
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Publications

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.

PMID: 37432935
Journal: PLoS One
Year: 2023
Reference: PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso-Cerezo, Maria Concepcion; Aurrekoetxea, Josu; Bahillo, Pilar; Bertholt, Laura; Camats, Nuria; Castano, Luis; Cortazar, Alicia; Esteva, Isabel; Fluck, Christa E; Grau, Gema et al.
DOI: 10.1371/journal.pone.0287515

ALPINE2: Efficacy and safety of 14-day vs 28-day inhaled aztreonam for Pa eradication in children with cystic fibrosis.

PMID: 37455237
Journal: Journal of Cystic Fibrosis
Year: 2023
Reference: J Cyst Fibros. 2023 Jul 14:S1569-1993(23)00821-4. doi: 10.1016/j.jcf.2023.06.008.
Impact factor:
Publication type: Paper in international publication
Authors: Alani, Muhsen; Bresnik, Mark; Bui, Stephanie; Frankovic, Biliana; Gartner, Silvia; Gilchrist, Francis J; Gurtovaya, Oksana; McColley, Susanna A; Ruiz, Gary; Skov, Marianne et al.
DOI: 10.1016/j.jcf.2023.06.008

Clinical Outcomes of Critical COVID-19 in HIV-Infected Adults: A Propensity Score Matched Analysis.

PMID: 37661559
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2023
Reference: Arch Bronconeumol. 2023 Aug 7:S0300-2896(23)00267-3. doi: 10.1016/j.arbres.2023.07.029.
Impact factor:
Publication type: Letter or abstract
Authors: Abril, Elena; Barbe, Ferran; Barbera, Carme; Bustamante-Munguira, Elena; Bustamante-Munguira, Elena; Caballero, Jesus; Caballero, Jesus; Canseco, Joan; Carbonell, Nieves; Ceccato, Adrian et al.
DOI: 10.1016/j.arbres.2023.07.029

Timing of umbilical cord occlusion, delayed vs early, in preterm babies: A randomized controlled trial (CODE-P Trial).

PMID: 37696147
Journal: European Journal of Obstetrics & Gynecology and Reproductive Biology
Year: 2023
Reference: Eur J Obstet Gynecol Reprod Biol. 2023 Aug 23;289:203-207. doi: 10.1016/j.ejogrb.2023.08.376.
Impact factor:
Publication type: Paper in international publication
Authors: Beneitez, D; Beneitez, D; Bergamo, S; Bergamo, S; Carbonell, M; Carbonell, M; Carreras, E; Carreras, E; Castillo, F; Castillo, F et al.
DOI: 10.1016/j.ejogrb.2023.08.376

Non-invasive mechanical ventilation in Spanish neonatal units.

PMID: 35786540
Journal: ANALES DE PEDIATRIA
Year: 2022
Reference: An Pediatr (Engl Ed). 2022 Aug;97(2):138-140. doi: 10.1016/j.anpede.2021.08.009. Epub 2022 Jun 30.
Impact factor:
Publication type: Letter whit IF
Authors: Camba Longueira, Fatima; Castillo Salinas, Felix; Comunas Gomez, Juan Jose; Fernandez Garcia, Cristina; Montaner Ramon, Alicia et al.
DOI: 10.1016/j.anpede.2021.08.009

Intralymphatic GAD-alum (Diamyd(R)) improves glycaemic control in Type 1 diabetes with HLA DR3-DQ2.

PMID: 35665810
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2022
Reference: J Clin Endocrinol Metab. 2022 Aug 18;107(9):2644-2651. doi: 10.1210/clinem/dgac343.
Impact factor:
Publication type: Paper in international publication
Authors: Casas, Rosaura; Chavez, Lia Nattero; Clemente Leon, Maria; Dietrich, Fabricia; Gomez-Gila, Ana; Hanas, Ragnar; Hannelius, Ulf; Hernandez, Cristina; Lind, Marcus; Lozano, Marta Ferrer et al.
DOI: 10.1210/clinem/dgac343

Clinical practice guidelines for transsexual, transgender and gender diverse minors.

PMID: 35534418
Journal: ANALES DE PEDIATRIA
Year: 2022
Reference: An Pediatr (Engl Ed). 2022 Apr;96(4):349.e1-349.e11. doi: 10.1016/j.anpede.2022.02.002. Epub 2022 May 6.
Impact factor:
Publication type: Paper in international publication
Authors: Campos-Martorell, Ariadna; Chueca-Guindulain, Maria Jesus; Garcia Garcia, Emilio; Gomez Balaguer, Marcelino; Guerrero-Fernandez, Julio; Hoyos-Gurrea, Raul; Lopez de Lara, Diego; Lopez-Siguero, Juan Pedro; Martos Tello, Jose Maria; Mora Palma, Cristina et al.
DOI: 10.1016/j.anpede.2022.02.002

Prostaglandin E2: A Potential Link Between Cystic Fibrosis and Cancer.

PMID: 35526914
Journal: CHEST
Year: 2022
Reference: Chest. 2022 May;161(5):e332-e333. doi: 10.1016/j.chest.2021.12.641.
Impact factor:
Publication type: Letter or abstract
Authors: Gartner, Silvia; Picado, Cesar et al.
DOI: 10.1016/j.chest.2021.12.641

Respiratory outcomes of "new" bronchopulmonary dysplasia in adolescents: A multicenter study.

PMID: 33314679
Journal: PEDIATRIC PULMONOLOGY
Year: 2021
Reference: Pediatr Pulmonol. 2021 May;56(5):1205-1214. doi: 10.1002/ppul.25226. Epub 2020 Dec 22.
Impact factor:
Publication type: Paper in international publication
Authors: Calderin, Elisa Maria Canino; Callejon, Alicia Callejon; Castaneda, Montserrat Berrocal; Colomer, Jordi Costa; Esteban, Santiago Rueda; Garcia, Maria Luz Garcia; Medina, Orlando Mesa; Messa, Ines De Mir; Miro, Xavier Domingo; Perez-Tarazona, Santiago et al.
DOI: 10.1002/ppul.25226

Gonadectomy In Conditions Affecting Sex Development - A Registry-Based Cohort Study.

PMID: 33780351
Journal: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Year: 2021
Reference: Eur J Endocrinol. 2021 May 4;184(6):791-801. doi: 10.1530/EJE-20-1058.
Impact factor:
Publication type: Paper in international publication
Authors: Ahmed, S Faisal; Arlt, Wiebke; Audi, Laura; Balsamo, Antonio; Baronio, Federico; Bertelloni, Silvano; Bettendorf, Markus; Brooke, Antonia; Bryce, Jillian; Claahsen-van der Grinten, Hedi L et al.
DOI: 10.1530/EJE-20-1058

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

PMID: 32677093
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Year: 2021
Reference: J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, S; Aldamiz-Echevarria, L; Arranz, A; Artuch, R; Baide-Mairena, H; Carrozzo, R; Correa-Vela, M; Del Toro, M; Delgado, I; Dionisi-Vici, C et al.
DOI: 10.1002/jimd.12288

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

PMID: 32253119
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2021
Reference: Arch Bronconeumol. 2021 Mar;57(3):186-194. doi: 10.1016/j.arbres.2020.02.010. Epub 2020 Apr 3.
Impact factor:
Publication type: Paper in national publication
Authors: Amaro-Rodriguez, Rosanel; Amengual Pieras, Esther; Antolin, Maria; Armengot-Carceller, Miguel; Asensio de la Cruz, Oscar; Baz-Redon, Noelia; Caballero-Rabasco, M Araceli; Camats-Tarruella, Nuria; Castillo-Corullon, Silvia; Cols Roig, Maria et al.
DOI: 10.1016/j.arbres.2020.02.010

Diagnostic criteria for acute FPIES: what are we missing?

PMID: 31821916
Journal: Journal of Allergy and Clinical Immunology-In Practice
Year: 2020
Reference: J Allergy Clin Immunol Pract. 2020 May;8(5):1717-1720.e2. doi: 10.1016/j.jaip.2019.11.034. Epub 2019 Dec 9.
Impact factor:
Publication type: Paper in international publication
Authors: Argiz, Laura; Barni, Simona; Blasco, Cristina; Echeverria, Luis; Garcia, Emilio; Gonzalez-Delgado, Purificacion; Infante, Sonsoles; Machinena, Adrianna; Martinon-Torres, Frederico; Prieto, Ana et al.
DOI: 10.1016/j.jaip.2019.11.034

Primary endovascular treatment for acute ischemic stroke in teenage patients: a short case series.

PMID: 32307558
Journal: NEURORADIOLOGY
Year: 2020
Reference: Neuroradiology. 2020 Jul;62(7):851-860. doi: 10.1007/s00234-020-02421-z. Epub 2020 Apr 19.
Impact factor:
Publication type: Paper in international publication
Authors: de Miquel, Maria Angeles; Delgado-Alvarez, Ignacio; Dmytriw, Adam A; Felipe-Rucian, Ana; Macaya, Alfons; Parra-Farinas, Carmen; Ribo, Marc; Sanchez-Montanez, Angel; Sola, Teresa; Tomasello, Alejandro et al.
DOI: 10.1007/s00234-020-02421-z

Impact of COVID-19 on people with cystic fibrosis.

PMID: 32304639
Journal: Lancet Respiratory Medicine
Year: 2020
Reference: Lancet Respir Med. 2020 May;8(5):e35-e36. doi: 10.1016/S2213-2600(20)30177-6. Epub 2020 Apr 15.
Impact factor:
Publication type: Letter or abstract
Authors: Burgel, Pierre-Regis; Colombo, Carla; Gartner, Silvia; Naehrlich, Lutz; Sermet-Gaudelus, Isabelle; Southern, Kevin W; van Koningsbruggen-Rietschel, Silke et al.
DOI: 10.1016/S2213-2600(20)30177-6

Hypophosphatasia: Novel Mutation Associated With An Atypical Newborn Presentation

PMID: 30929401
Journal: Journal of Clinical Research in Pediatric Endocrinology
Year: 2020
Reference: J Clin Res Pediatr Endocrinol. 2020 Mar 19;12(1):104-108. doi: 10.4274/jcrpe.galenos.2019.2018.0263. Epub 2019 Apr 1.
Impact factor:
Publication type: Paper in international publication
Authors: Campos-Martorell, Ariadna; Castillo, Felix; Esmel-Vilomara, Roger; Gonzalez-Roca, Eva; Hernandez, Susana; Yeste, Diego et al.
DOI: 10.4274/jcrpe.galenos.2019.2018.0263

The effect of PTC mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: A basis for read-through therapies in Cystic Fibrosis.

PMID: 30488522
Journal: HUMAN MUTATION
Year: 2019
Reference: Hum Mutat. 2019 Mar;40(3):326-334. doi: 10.1002/humu.23692. Epub 2018 Dec 10.
Impact factor:
Publication type: Paper in international publication
Authors: Amaral, Margarida D; Awatade, Nikhil T; Azevedo, Pilar; Barreto, Celeste; Beekman, Jeffrey; Bertuzzo, Carmen; Calucho, Maite; Cavaco, Jose; Clarke, Luka A; Felicio, Veronica M et al.
DOI: 10.1002/humu.23692

Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials.

PMID: 30723730
Journal: ERJ open research
Year: 2019
Reference: ERJ Open Res. 2019 Feb 1;5(1). pii: 00147-2018. doi: 10.1183/23120541.00147-2018. eCollection 2019 Feb.
Impact factor:
Publication type: Paper in international publication
Authors: Amorim, Adelina; Boon, Mieke; Brown, Philippa; Carr, Siobhan B; Constant, Carolina; Cook, Simon; Crowley, Suzanne; Destouches, Damien M S; Eber, Ernst; Gahleitner, Florian et al.
DOI: 10.1183/23120541.00147-2018

Egg Oral Immunotherapy in Children (SEICAP I). Daily or Weekly Desensitization Pattern.

PMID: 30169915
Journal: PEDIATRIC ALLERGY AND IMMUNOLOGY
Year: 2019
Reference: Pediatr Allergy Immunol. 2019 Feb;30(1):81-92. doi: 10.1111/pai.12974. Epub 2018 Nov 21.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso, Elena; Belver, Maria Teresa; Blasco, Cristina; Echeverria, Luis; Fuentes, Victoria; Garcia, Juan Maria; Gomez, Catalina; Madero, Rosario; Martin-Munoz, Maria Flora; Martorell, Antonio et al.
DOI: 10.1111/pai.12974

Food Protein-Induced Enterocolitis Syndrome: Data from a Multicenter Retrospective Study in Spain.

PMID: 30320669
Journal: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
Year: 2019
Reference: J Pediatr Gastroenterol Nutr. 2019 Feb;68(2):232-236. doi: 10.1097/MPG.0000000000002169.
Impact factor:
Publication type: Paper in international publication
Authors: Blasco-Alonso, Javier; Cano, Beatriz; Diaz, Juan J; Dominguez-Ortega, Gloria; Espin, Beatriz; Moreno, Ana; Rayo, Ana; Segarra, Oscar et al.
DOI: 10.1097/MPG.0000000000002169

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.

PMID: 29670578
Journal: Frontiers in Endocrinology
Year: 2018
Reference: Front Endocrinol (Lausanne). 2018 Apr 4;9:142. doi: 10.3389/fendo.2018.00142. eCollection 2018.
Impact factor:
Publication type: Paper in international publication
Authors: Audi, Laura; Camats, Nuria; Castano, Luis; de Mingo, Carmen; Fernandez-Cancio, Monica; Fluck, Christa E; Martinez de LaPiscina, Idoia; Pandey, Amit V; Riedl, Stefan; Rodriguez, Amaia et al.
DOI: 10.3389/fendo.2018.00142

Attention deficit hyperactivity disorder symptoms in patients with cystic fibrosis.

PMID: 29269187
Journal: Journal of Cystic Fibrosis
Year: 2018
Reference: J Cyst Fibros. 2018 Mar;17(2):281-285. doi: 10.1016/j.jcf.2017.11.020. Epub 2017 Dec 19.
Impact factor:
Publication type: Paper in international publication
Authors: Bentur, Lea; Berger, Itai; Blau, Hannah; Breuer, Oded; Cohen-Cymberknoh, Malena; Gartner, Silvia; Gur, Michal; Kadosh, Diana; Kerem, Eitan; Mussaffi, Huda et al.
DOI: 10.1016/j.jcf.2017.11.020

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene.

PMID: 29576868
Journal: Endocrinology, diabetes & metabolism case repo
Year: 2018
Reference: Endocrinol Diabetes Metab Case Rep. 2018 Mar 21;2018. pii: EDM180003. doi: 10.1530/EDM-18-0003. eCollection 2018.
Impact factor:
Publication type: Paper in international publication
Authors: Burget, Lukas; Fernandez-Cancio, Monica; Fluck, Christa E; Grani, Rolf; Henzen, Christoph; Parera, Laura Audi et al.
DOI: 10.1530/EDM-18-0003

Lung Transplantation in Cystic Fibrosis and the Impact of Extracorporeal Circulation.

PMID: 29534846
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2018
Reference: Arch Bronconeumol. 2018 Jun;54(6):313-319. doi: 10.1016/j.arbres.2018.01.013. Epub 2018 Mar 10.
Impact factor:
Publication type: Paper in national publication
Authors: Armengol, Manuel; Deu, Maria; Jauregui, Alberto; Moreno, Antonio; Roman, Antonio; Romero, Laura; Sole, Juan et al.
DOI: 10.1016/j.arbres.2018.01.013

Health-Care Associated Mycobacterium bovis-BCG Infection in Cancer Patients without prior BCG Instillation.

PMID: 28575173
Journal: CLINICAL INFECTIOUS DISEASES
Year: 2017
Reference: Clin Infect Dis. 2017 Oct 1;65(7):1136-1143. doi: 10.1093/cid/cix496.
Impact factor:
Publication type: Paper in international publication
Authors: Ayestaran, A; Calsina, M; Carratala, J; Cayla, J A; Clemente, M; Coll, P; Lopez-Sanchez, C; Loureiro, J; Martinez-Montauti, J; Meije, Y et al.
DOI: 10.1093/cid/cix496

Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.

PMID: 28458902
Journal: Endocrinology, diabetes & metabolism case repo
Year: 2017
Reference: Endocrinol Diabetes Metab Case Rep. 2017 Mar 16;2017. pii: 16-0133. doi: 10.1530/EDM-16-0133. eCollection 2017.
Impact factor:
Publication type: Paper in international publication
Authors: Ariceta, Gema; Campos, Ariadna; Clemente, Maria; Martinez, Rosa; Vargas, Alejandro; Yeste, Diego et al.
DOI: 10.1530/EDM-16-0133

Achievement of metabolic control among children and adolescents with type 1 diabetes in Spain.

PMID: 28421336
Journal: ACTA DIABETOLOGICA
Year: 2017
Reference: Acta Diabetol. 2017 Jul;54(7):677-683. doi: 10.1007/s00592-017-0991-0. Epub 2017 Apr 18.
Impact factor:
Publication type: Paper in international publication
Authors: Barrio, Raquel; Caimari, Maria; Clemente, Maria; Garcia-Cuartero, Beatriz; Gomez-Gila, Ana Lucia; Gonzalez, Isabel; Mingorance, Andres; Rica, Itxaso et al.
DOI: 10.1007/s00592-017-0991-0

Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17alpha-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

PMID: 28376482
Journal: Sexual Development
Year: 2017
Reference: Sex Dev. 2017;11(2):70-77. doi: 10.1159/000468160. Epub 2017 Apr 4.
Impact factor:
Publication type: Paper in international publication
Authors: Arnhold, Ivo J P; Audi, Laura; Bilharinho Mendonca, Berenice; Carrascosa, Antonio; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Garcia-Garcia, Emilio; Gonzalez-Cejudo, Carmen; Guerra-Junior, Gil; Mangas-Cruz, Miguel-Angel et al.
DOI: 10.1159/000468160

The radiologist's role in child abuse: imaging protocol and differential diagnosis.

PMID: 27091551
Journal: Radiologia
Year: 2016
Reference: Radiologia. 2016 May;58 Suppl 2:119-28. doi: 10.1016/j.rx.2016.02.010. Epub 2016 Apr 15.
Impact factor: 0
Publication type: Paper in national publication
Authors: Delgado Alvarez, I, de la Torre, I Barber Martinez, Vazquez Mendez, E et al.
DOI: 10.1016/j.rx.2016.02.010

Priapism as a new symptom of anaphylaxis in a prepubescent child.

PMID: 27496320
Journal: PEDIATRIC ALLERGY AND IMMUNOLOGY
Year: 2016
Reference: Pediatr Allergy Immunol. 2016 Dec;27(8):871-872. doi: 10.1111/pai.12618. Epub 2016 Sep 16.
Impact factor: 3.947
Publication type: Letter whit IF
Authors: Castilla-Hernandez, Eva, Garriga-Baraut, Teresa et al.
DOI: 10.1111/pai.12618

Clinical and genetic characterization of congenital hyperinsulinism in Spain.

PMID: 27188453
Journal: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Year: 2016
Reference: Eur J Endocrinol. 2016 Jun;174(6):717-26. doi: 10.1530/EJE-16-0027.
Impact factor: 3.892
Publication type: Paper in international publication
Authors: Martinez, R, Fernandez-Ramos, C, Vela, A, Velayos, T, Aguayo, A, Urrutia, I, Rica, I, Castano, L, Clemente Leon, Maria et al.
DOI: 10.1530/EJE-16-0027

[Pulmonary hypoplasia: An analysis of cases over a 20-year period].

PMID: 26625967
Journal: ANALES DE PEDIATRIA
Year: 2016
Reference: An Pediatr (Barc). 2016 Aug;85(2):70-6. doi: 10.1016/j.anpedi.2015.10.008. Epub 2015 Nov 25.
Impact factor: 0.773
Publication type: Paper in national publication
Authors: Delgado-Pena, Yanny Paola, Torrent-Vernetta, Alba, Sacoto, Gabriela, de Mir-Messa, Ines, Rovira-Amigo, Sandra, Gartner, Silvia, Moreno-Galdo, Antonio, Molino-Gahete, Jose Andres, Castillo-Salinas, Felix et al.
DOI: 10.1016/j.anpedi.2015.10.008

LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study.

PMID: 25896302
Journal: SEX DEV
Year: 2015
Reference: Sex Dev. 2015;9(3):144-54. doi: 10.1159/000381575. Epub 2015 Apr 17.
Impact factor:
Publication type: Paper in international publication
Authors: Andaluz, Pilar; Audi, Laura; Camats, Nuria; Carrascosa, Antonio; Fernandez-Cancio, Monica; Fluck, Christa E; Mullis, Primus E et al.
DOI: 10.1159/000381575

Spanish consensus on the prevention and treatment of Pseudomonas aeruginosa bronchial infections in cystic fibrosis patients.

PMID: 25614377
Journal: ARCH BRONCONEUMOL
Year: 2015
Reference: Arch Bronconeumol. 2015 Mar;51(3):140-50. doi: 10.1016/j.arbres.2014.09.021. Epub 2015 Jan 20.
Impact factor:
Publication type: Paper in national publication
Authors: Asensio, Oscar; Barberan, Jose; Barrio, Maria Isabel; Canton, Rafael; Caston, Juan Jose; de Gracia, Javier; Escribano, Amparo; Gartner, Silvia; Giron, Rosa; Maiz, Luis et al.
DOI: 10.1016/j.arbres.2014.09.021

[Allergic asthma.]

PMID: 25433783
Journal: MED CLIN-BARCELONA
Year: 2015
Reference: Med Clin (Barc). 2015 Mar 9;144(5):216-22. doi: 10.1016/j.medcli.2014.08.009. Epub 2014 Nov 26.
Impact factor:
Publication type: Paper in national publication
Authors: Cardona, Victoria; Garriga, Teresa et al.
DOI: 10.1016/j.medcli.2014.08.009

[Determining asthma treatment in children by monitoring fractional exhaled nitric oxide, sputum eosinophils and leukotriene B]

PMID: 24857428
Journal: AN PEDIATR
Year: 2015
Reference: An Pediatr (Barc). 2015 Jan;82(1):e21-5. doi: 10.1016/j.anpedi.2014.03.012. Epub 2014 May 22.
Impact factor:
Publication type: Paper in national publication
Authors: Cruz, M J; de Mir Messa, I; Gomez-Olles, S; Moreno-Galdo, A; Munoz, X; Vizmanos-Lamotte, G et al.
DOI: 10.1016/j.anpedi.2014.03.012

Clinical challenges in the management of isolated GH deficiency type IA in adulthood.

PMID: 24683479
Journal: Endocrinology, diabetes & metabolism case reports
Year: 2014
Reference: Endocrinol Diabetes Metab Case Rep. 2014;2014:130057. doi: 10.1530/EDM-13-0057. Epub 2014 Feb 1.
Impact factor:
Publication type: Letter or abstract
Authors: Casteras, Anna, Kratzsch, Jurgen, Ferrandez, Angel, Zafon, Carles, Carrascosa, Antonio, Mesa, Jordi et al.
DOI: 10.1530/EDM-13-0057

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

PMID: 23837941
Journal: CLIN GENET
Year: 2014
Reference: Clin Genet. 2014 Jul;86(1):91-5. doi: 10.1111/cge.12234. Epub 2013 Jul 28.
Impact factor: 3.652
Publication type: Paper in international publication
Authors: Ramos, Md, Trujillano, D, Olivar, R, Sotillo, F, Ossowski, S, Manzanares, J, Costa, J, Gartner, S, Oliva, C, Quintana, E et al.
DOI: 10.1111/cge.12234

AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.

PMID: 24737579
Journal: J ANDROL
Year: 2014
Reference: Andrology. 2014 Jul;2(4):572-8. doi: 10.1111/j.2047-2927.2014.00215.x. Epub 2014 Apr 16.
Impact factor: 1.694
Publication type: Paper in international publication
Authors: Akcay, T, Fernandez-Cancio, M, Turan, S, Guran, T, Audi, L, Bereket, A et al.
DOI: 10.1111/j.2047-2927.2014.00215.x

The role of leptin in diencephalic syndrome.

PMID: 24366994
Journal: PEDIATRICS
Year: 2014
Reference: Pediatrics. 2014 Jan;133(1):e263-6. doi: 10.1542/peds.2012-3196. Epub 2013 Dec 23.
Impact factor: 5.297
Publication type: Paper in international publication
Authors: Velasco, Pablo, Clemente, Maria, Lorite, Raquel, Ventura, M Clara, Gros, Luis, Sanchez de Toledo, Jose, Gallego, Soledad et al.
DOI: 10.1542/peds.2012-3196

Early versus conventional treatment for patent ductus arteriosus in preterm infants.

PMID: 22918677
Journal: AMERICAN JOURNAL OF PERINATOLOGY
Year: 2013
Reference: Am J Perinatol. 2013 Apr;30(4):289-95. doi: 10.1055/s-0032-1324696. Epub 2012 Aug 23.
Impact factor: 1.574
Publication type: Paper in international publication
Authors: Albert, Dimpna C, Ferrer Menduina, Queralt, Coma Redon, Ermengol, Castillo Salinas, Felix, Candel-Pau, Julia, Linde Sillo, Angeles et al.
DOI: 10.1055/s-0032-1324696

Personalized approach to growth hormone treatment: clinical use of growth prediction models.

PMID: 23735882
Journal: Hormone Research in Paediatrics
Year: 2013
Reference: Horm Res Paediatr. 2013;79(5):257-70. doi: 10.1159/000351025. Epub 2013 May 28.
Impact factor: 1.553
Publication type: Paper in international publication
Authors: Roelants, M, Dahlgren, J, Wit, J M, Ranke, M B, Albertsson-Wikland, K, Carrascosa, A, Rosenfeld, R G, Van Buuren, S, Kristrom, B, Schoenau, E et al.
DOI: 10.1159/000351025

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

PMID: 23533243
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2013
Reference: J Clin Endocrinol Metab. 2013 May;98(5):E996-1006. doi: 10.1210/jc.2012-4164. Epub 2013 Mar 26.
Impact factor: 6.43
Publication type: Paper in international publication
Authors: Oyarzabal, M, Lecumberri, Beatriz, Gaztambide, Sonia, Martinez-Indart, Lorea, Perez de Nanclares, Guiomar, Castano, Luis, Arroyo, J, Saez, F, Sanchez, A, Dominguez, A et al.
DOI: 10.1210/jc.2012-4164

Quantification of major urinary metabolites of PGE2 and PGD2 in cystic fibrosis: correlation with disease severity.

PMID: 23791427
Journal: PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS
Year: 2013
Reference: Prostaglandins Leukot Essent Fatty Acids. 2013 Aug;89(2-3):121-6. doi: 10.1016/j.plefa.2013.06.001. Epub 2013 Jun 20.
Impact factor: 2.732
Publication type: Paper in international publication
Authors: Jabr, Suha, Gartner, Silvia, Milne, Ginger L, Roca-Ferrer, Jordi, Casas, Josefina, Moreno, Antonio, Gelpi, Emilio, Picado, Cesar et al.
DOI: 10.1016/j.plefa.2013.06.001

Management of obesity in childhood and adolescence: from diet to surgery.

PMID: 22695373
Journal: Endocrinología y nutrición
Year: 2012
Reference: Endocrinol Nutr. 2012 Aug-Sep;59(7):403-6. Epub 2012 Jun 12.
Impact factor:
Publication type: Letter or abstract
Authors: , et al.
DOI: 10.1016/j.endonu.2012.03.013

[Management of obesity in childhood and adolescence: From diet to surgery.]

PMID: 22622281
Journal: ANALES DE PEDIATRIA
Year: 2012
Reference: An Pediatr (Barc). 2012 Aug;77(2):71-4. doi: 10.1016/j.anpedi.2012.03.010. Epub 2012 May 21.
Impact factor: 0.77
Publication type: Editorial in national publication
Authors: , et al.
DOI: 10.1016/j.anpedi.2012.03.010

Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals.

PMID: 22549935
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2012
Reference: J Clin Endocrinol Metab. 2012 Jul;97(7):E1294-306. doi: 10.1210/jc.2011-3169. Epub 2012 May 1.
Impact factor: 5.967
Publication type: Paper in international publication
Authors: , , , , , , , , , et al.
DOI: 10.1210/jc.2011-3169

Paediatric patients with a tracheostomy. spanish multi-centre epidemiological study.

PMID: 22496314
Journal: EUROPEAN RESPIRATORY JOURNAL
Year: 2012
Reference: Eur Respir J. 2012 Dec;40(6):1502-7. doi: 10.1183/09031936.00164611. Epub 2012 Apr 10.
Impact factor: 5.895
Publication type: Paper in international publication
Authors: , , , , , , , , , et al.
DOI: 10.1183/09031936.00164611

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:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1159/000318782

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

Allergic diseases in the elderly.

PMID: 22409889
Journal: Clinical and translational allergy
Year: 2011
Reference: Clin Transl Allergy. 2011 Oct 17;1(1):11.
Impact factor:
Publication type: Letter or abstract
Authors: Cardona, Victoria, Guilarte, Mar, Luengo, Olga, Labrador-Horrillo, Moises, Sala-Cunill, Anna, Garriga, Teresa et al.
DOI: 10.1186/2045-7022-1-11

[Lung transplantation in children: challenges and realities].

PMID: 21624776
Journal: ANALES DE PEDIATRIA
Year: 2011
Reference: An Pediatr (Barc). 2011 Jun;74(6):353-5.
Impact factor: 0.57
Publication type: Paper in national publication
Authors: Moreno Galdo, Antonio, Torrent Vernetta, Alba et al.
DOI: 10.1016/j.anpedi.2011.03.029

Results of the oral egg-challenge test performed on two different groups of children. One group with a history, suggestive of allergic reaction with egg intake and the other group sensitised to hen's egg without previous egg intake.

PMID: 20619526
Journal: ALLERGOLOGIA ET IMMUNOPATHOLOGIA
Year: 2010
Reference: Allergol Immunopathol (Madr). 2010 Sep-Oct;38(5):233-40. Epub 2010 Jul 8.
Impact factor: 0.63
Publication type: Paper in national publication
Authors: Valero, C Blasco, Molina, A M Marin, Hontoria, O Esteso, Conde, S L Romero, Baraut, T Garriga, Fadeeva, T, Asin, J L Eseverri, Horrillo, M Labrador, Vela, R F Ocana et al.
DOI: 10.1016/j.aller.2010.01.004

[Mycotic aneurysm of infrarenal abdominal aorta due to Coxiella burnetii].

PMID: 19573882
Journal: MEDICINA CLINICA
Year: 2010
Reference: Med Clin (Barc). 2010 Jul 3;135(4):187-8. Epub 2009 Jul 2.
Impact factor: 1.231
Publication type: Letter or abstract
Authors: Santos, Carlos, Garriga, Teresa, Juste, Concepcion, Arderiu, Assumpta et al.
DOI: 10.1016/j.medcli.2009.05.005

Glycogen storage disease type III with hypoketosis.

PMID: 21073127
Journal: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Year: 2010
Reference: J Pediatr Endocrinol Metab. 2010 Aug;23(8):833-6.
Impact factor: 0.738
Publication type: Paper in international publication
Authors: Clemente, Maria, Gussinyer, Miquel, Arranz, Jose Antonio, Riudor, Encarnacio, Yeste, Diego, Albisu, Marian, Carrascosa, Antonio et al.
DOI:

The effects of growth hormone deficiency and growth hormone replacement therapy on intellectual ability, personality and adjustment in children.

PMID: 20684123
Journal: Pediatr. Endocrinol Rev.
Year: 2010
Reference: Pediatr Endocrinol Rev. 2010 Jun;7(4):328-38.
Impact factor:
Publication type: Letter or abstract
Authors: Albisu, J, Nosas, R, Ferrandez, A, Mayayo, E, Labarta, J L, Puga, B, Oyarzabal, M, Arraras, C, Nosas, R, Brum, C et al.
DOI:

[Sarcoidosis: a systemic form in a four year-old child]

PMID: 19604734
Journal: ANALES DE PEDIATRIA
Year: 2009
Reference: An Pediatr (Barc). 2009 Sep;71(3):268-70.
Impact factor:
Publication type: Letter or abstract
Authors: Carrascosa, A, Usandizaga, F Coll, Rue, M Tobena, Galdo, A Moreno et al.
DOI: 10.1016/j.anpedi.2009.05.007

[Neonatal non-invasive ventilation protocol: care in recommending too low pressures]

PMID: 19246262
Journal: ANALES DE PEDIATRIA
Year: 2009
Reference: An Pediatr (Barc). 2009 Mar;70(3):302-4.
Impact factor:
Publication type: Letter or abstract
Authors: Franco, M L, Fernandez, J, Gresa, M, Gutierrez, A, Lopez de Heredia, I, Miracle, X, Moreno, J, Losada, A, Elorza, D, Castillo Salinas, F et al.
DOI: 10.1016/j.anpedi.2008.11.021

ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.

PMID: 18414894
Journal: EUROPEAN JOURNAL OF PEDIATRICS
Year: 2009
Reference: Eur J Pediatr. 2009 Jan;168(1):65-9.
Impact factor: 1.416
Publication type: Paper in international publication
Authors: Gonzalez-Nino, Cristina, Perez de Nanclares, Guiomar, Perez-Nanclares, Gustavo, Audi, Laura, Castano, Luis, Carrascosa, Antonio, Yeste, Diego et al.
DOI: 10.1007/s00431-008-0710-5

Therapeutic indications of fetoscopy: a 5-year institutional experience.

PMID: 19260783
Journal: Journal of Laparoendoscopic & Advanced Surgical Techniques
Year: 2009
Reference: J Laparoendosc Adv Surg Tech A. 2009 Apr;19(2):229-36.
Impact factor: 0.912
Publication type: Paper in international publication
Authors: Peiro, Jose L, Carreras, Elena, Guillen, Gabriela, Arevalo, Silvia, Sanchez-Duran, M Angeles, Castillo, Felix, Marhuenda, Claudia, Lloret, Josep, Martinez-Ibanez, Vicenc, Higueras, Teresa et al.
DOI: 10.1089/lap.2007.0149

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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.