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: Eduardo Tizzano Ferrari

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The Medicine Genetics Group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Valle Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development. The group is part of the first Network of Clinical expertise in cognitive disorders organized by the Cat Salut, (XUEC)(2015) and the ERN ITHACA (2019) working actively in different consortiums for rare disorders.

22

total

98

impact factor

4^.47

average impact factor

SELECTED ARTICLES

Dangouloff T, Burghes A, Tizzano EF, Servais L; NBS SMA Study Group.
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.
Neuromuscul Disord. 2019;S0960-8966(19)31171-X.
doi:10.1016/j.nmd.2019.11.002
IF: 3.115

Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL.
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
Nat Commun. 2019;10(1):797.
doi:10.1038/s41467-019-08548-9
IF: 12.121

Serra-Juhe C, Tizzano EF.
Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.
Eur J Hum Genet. 2019 May 3.
doi: 10.1038/s41431-019-0415-4.
IF: 3.657

Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano EF, Zanoteli E.
Severe brain involvement in 5q spinal muscular atrophy type 0.
Ann Neurol. 2019 Sep;86(3):458-462.
doi: 10.1002/ana.25549
IF: 9.037

Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M.
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Clin Genet. 2019;10.1111/cge.13651.
doi:10.1111/cge.13651
IF: 3.578

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