Lista de obras - Ettore Piro - Dominio Público Uruguay

10qter deletion: a new case.

artículo científico publicado en 2008

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

artículo científico publicado en 2009

Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH.

artículo científico publicado en 2012

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

artículo científico publicado en 2018

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study

artículo científico publicado en 2016

Dilated azygos arch mimicking an aortic arch anomaly during thoracic surgery.

artículo científico publicado en 2017

Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery.

artículo científico publicado en 2013

Etiological heterogeneity and clinical variability in newborns with esophageal atresia.

artículo científico publicado en 2018

Growth patterns and associated risk factors of congenital malformations in twins

scientific article published on 24 May 2020

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation

artículo científico

Intrauterine growth pattern and birthweight discordance in twin pregnancies: a retrospective study

artículo científico publicado en 2014

Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study.

artículo científico publicado en 2013

Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two sicilian children ⬇️

artículo científico publicado el 1 de enero de 1991

NF1 microdeletion syndrome: case report of two new patients

scientific article published on 08 November 2019

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

scientific article published on 18 September 2020

Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital

scientific article published on 24 May 2020

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

scientific article published on 24 September 2020

Oxidative Stress in Preterm Infants: Overview of Current Evidence and Future Prospects

scientific article published on 07 July 2020

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.

artículo científico publicado en 2015

Perlman syndrome: Clinical report and nine-year follow-up

scientific article published on 01 December 2005

Predictive factors of abdominal compartment syndrome in neonatal age.

artículo científico publicado en 2013

Prematurity and twinning.

artículo científico publicado en 2012

The world of twins: an update.

artículo científico publicado en 2010

Transitional hemodynamics in infants of diabetic mothers by targeted neonatal echocardiography, electrocardiography and peripheral flow study

artículo científico publicado en 2017

Lista de obras de Ettore Piro

10qter deletion: a new case.

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH.

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study

Dilated azygos arch mimicking an aortic arch anomaly during thoracic surgery.

Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery.

Etiological heterogeneity and clinical variability in newborns with esophageal atresia.

Growth patterns and associated risk factors of congenital malformations in twins

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation

Intrauterine growth pattern and birthweight discordance in twin pregnancies: a retrospective study

Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study.

Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two sicilian children ⬇️

NF1 microdeletion syndrome: case report of two new patients

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

Oxidative Stress in Preterm Infants: Overview of Current Evidence and Future Prospects

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.

Perlman syndrome: Clinical report and nine-year follow-up

Predictive factors of abdominal compartment syndrome in neonatal age.

Prematurity and twinning.

The world of twins: an update.

Transitional hemodynamics in infants of diabetic mothers by targeted neonatal echocardiography, electrocardiography and peripheral flow study