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

91

total

328

impact factor

3.60

average impact factor

Group Leader: Moreno Galdó, Antonio

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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.

23

total

107

impact factor

4^.64

average impact factor

SELECTED ARTICLES

Baz-Redón N, Rovira-Amigo S, Camats-Tarruella N, Fernández-Cancio M, Garrido-Pontnou M, Antolín M, Reula A, Armengot-Carceller M, Carrascosa A, Moreno-Galdó A.
Role of Immunofluorescence and Molecular Diagnosis in the Characterization of Primary Ciliary Dyskinesia.
Arch Bronconeumol. 2019 Mar 5. pii: S0300-2896(19)30032-8.
doi:10.1016/j.arbres.2019.01.021.
IF: 4,21
Sardón O, Torrent-Vernetta A, Rovira-Amigo S, Dishop MK, Ferreres JC, Navarro A, Corcuera P, Korta-Murua J, Peña PG, Pérez-Belmonte E, Villares A, Camats N, Fernández-Cancio M, Carrascosa A, Pérez-Yarza EG, Moreno-Galdó A.
Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.
Pediatr Pulmonol. 2019 Mar 25.
doi:10.1002/ppul.24324.
IF: 2,80
Clarke LA, Awatade NT, Felício VM, Silva IA, Calucho M, Pereira L, Azevedo P, Cavaco J, Barreto C, Bertuzzo C, Gartner S, Beekman J, Amaral MD.
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.
Hum Mutat. 2019 Mar;40(3):326-334.
doi: 10.1002/humu.23692
IF: 4,45
Fernández-Cancio N, Viswanath N, Puzhankara R, Valiyaprambil Pavithran P, Mora-Palma C, Camats N, Audí L, Benito-Sanz S.
A novel homozygous AMRH2 gene mutation in a patient with persistent Müllerian duct syndrome.
Sex Dev. 2019 Apr 2.
doi: 10.1159/000499324.
IF: 2,25
Flück CE, Audí L, Fernández-Cancio M, Sauter KS, Martinez de LaPiscina I, Castaño L, Esteva I, Camats N.
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
Front Genet. 2019 Aug 29;10:746.
doi: 10.3389/fgene.2019.00746.
IF: 3,59

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