Obstetrics, Pediatrics and Genetics

Overview

The Obstetrics, Pediatrics and Genetics area is focused on the research on the congenital malformations and pediatric diseases. The Fetal Maternal Medicine group creates synergies through the combined work of basic science researchers and clinical investigators in the preclinical basis of placental insufficiency complications and congenital heart disease. The Bio-Cell Fetal group, recently incorporated, studies basic pathophysiological mechanisms of fetal and pediatric congenital malformations, while the Growth and Development group does research on pediatric endocrine diseases. There is also a Genetics Medicine group that combines genetic diagnosis and research and is pioneer in Spain.

Publications

95

total

406

impact factor

4.28

average impact factor

Group Leader: Antonio Moreno Galdó

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We are a multidisciplinary group of pediatricians and biologists dedicated to clinical and translational research in rare pediatric diseases: growth disorders, differences of sex development, primary adrenal insufficiency, hypothyroidism, hyperinsulinism, hypoglycemia, primary ciliary dyskinesia, interstitial lung disorders, pulmonary hypertension and cystic fibrosis.

We participate in European and National Networks on rare paediatric endocrine and respiratory diseases (Endo-ERN, ERN LUNG, COST-BM1407, COST-CA16125 and CSUR 50.05) and collaborate with national and international researchers. We are Reference Center for the Early Detection Program of Congenital Hypothyroidism and Cystic Fibrosis of Catalonia.

We conduct a self-designed gene panel on paediatric respiratory disorders, perform high-speed video-microscopy and immunofluorescence analyses to patients with primary ciliary dyskinesia (PI16/01233; SEPAR 492) and execute functional studies on genetic variants of endocrine disorders.

27

total

124

impact factor

4^.60

average impact factor

SELECTED ARTICLES

Baz-Redón N, Rovira-Amigo S, Fernández-Cancio M, Castillo-Corullón S, Cols M, Caballero-Rabasco MA, Asensio Ó, Martín de Vicente C, Martínez-Colls MDM, Torrent-Vernetta A, de Mir-Messa I, Gartner S, Iglesias-Serrano I, Díez-Izquierdo A, Polverino E, Amengual-Pieras E, Amaro-Rodríguez R, Vendrell M, Mumany M, Pascual-Sánchez MT, Pérez-Dueñas B, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Garrido-Pontnou M, Camats-Tarruella N, Moreno-Galdó A.
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.
J Clin Med. 2020 Nov 9;9(11):3603.
DOI: 10.3390/jcm9113603
IF: 3.30
Moreno-Galdó A, Pérez-Yarza EG, Ramilo O, Rubí T, Escribano A, Torres A, Sardón O, Oliva C, Pérez G, Cortell I, Rovira-Amigo S, Pastor-Vivero MD, Pérez-Frías J, Velasco V, Torres J, Figuerola J, Barrio MI, García-Hernández G, Mejías A; SAREPREM 3235 investigators.
Recurrent wheezing during the first 3 years of life in a birth cohort of moderate-to-late preterm infants.
Pediatr Allergy Immunol. 2020 Feb;31(2):124-132.
DOI: 10.1111/pai.13134
IF: 4.70
Parween S, Fernández-Cancio M, Benito-Sanz S, Camats N, Rojas Velazquez MN, López-Siguero JP, Udhane SS, Kagawa N, Flück CE, Audí L, Pandey AV.
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.
J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgaa076.
DOI: 10.1210/clinem/dgaa076
IF: 5.40
Camats N, Flück CE, Audí L.
Oligogenic Origin of Differences of Sex Development in Humans.
Int J Mol Sci. 2020 Mar 6;21(5):1809.
DOI: 10.3390/ijms21051809
IF: 4.56
Argiz L, Infante S, Machinena A, Pascal M, Echeverria L, Barni S, Garriga-Baraut T, Arasi S, Moure JD, Gomez-Carballa A, Martinon-Torres F, Boyle RJ, Vazquez-Ortiz M; BIO-FPIES study network.
Reactions on re-exposure following negative and inconclusive follow-up food challenges in children with acute FPIES.
J Allergy Clin Immunol Pract. 2020 Oct;8(9):3228-3231.e3.
DOI: 10.1016/j.jaip.2020.05.040
IF: 7.57

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