Search Results - "Fogliani, Roberto"
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Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior
Published in Italian journal of pediatrics (03-10-2012)“…An increasing number of foetuses are recognized as having double Y because of the widespread use of prenatal screening using chorionic villus sampling and…”
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Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review
Published in Twin research and human genetics (01-06-2008)“…We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of…”
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Prenatal ultrasound predictors of postnatal major cerebral abnormalities in fetuses with apparently isolated mild ventriculomegaly
Published in Prenatal diagnosis (01-08-2015)“…Objective We aim to examine the incidence of major cerebral abnormalities on postnatal imaging in cases with isolated mild ventriculomegaly on fetal sonography…”
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Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome
Published in Prenatal diagnosis (01-11-2012)“…ABSTRACT Objective This study aims to investigate the clinical relevance of confined placental mosaicism (CPM) detected at chorionic villous sampling (CVS) and…”
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Suspected fetal brain metallic embolic microfragment detected by MR imaging
Published in Prenatal diagnosis (01-02-2015)Get full text
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Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis
Published in American journal of medical genetics. Part A (01-02-2013)Get full text
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Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report
Published in American journal of medical genetics. Part A (01-10-2014)“…Rubinstein–Taybi syndrome (RTS) is a rare multiple congenital anomalies‐intellectual disability syndrome. The diagnosis is made after birth and based on the…”
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Prenatal and postnatal findings in five cases of Fryns syndrome
Published in Prenatal diagnosis (01-12-2014)“…What's already known about this topic?Fryns syndrome is characterized by congenital diaphragmatic hernia, facial dysmorphisms, distal digital hypoplasia, and…”
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Author's reply regarding "Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome"
Published in Prenatal diagnosis (01-03-2013)Get full text
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Alcohol injection: a new method of treating placental chorioangiomas
Published in The Lancet (British edition) (15-05-1999)“…A study was conducted to determine the effects of injecting alcohol into the more sluggish circulation at the center of a tumor to ward off any damage…”
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La diagnosi prenatale della sindrome di Klinefelter
Published in L'Endocrinologo (01-12-2014)“…Sommario Il cariotipo 47,XXY, correlato con la sindrome di Klinefelter, è presente in circa un maschio ogni 700. Si ritiene che il 12–15% dei soggetti venga…”
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Haematological indices at fetal blood sampling in monochorionic pregnancies complicated by feto-fetal transfusion syndrome
Published in Prenatal diagnosis (01-09-1998)“…36 MCDA twin pregnancies with FFTS investigated by fetal blood sampling (FBS) were studied over a 10‐year period (1988–1997). The haematological data obtained…”
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Trisomy 21 is associated with hypercholesterolemia during intrauterine life
Published in American journal of obstetrics and gynecology (01-03-1997)“…OBJECTIVE: Because individuals with Down syndrome appear to be protected from the development of atherosclerosis, we aimed to assess whether blood lipid and…”
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Fetal haemodynamic stress response to invasive procedures
Published in The Lancet (British edition) (02-03-1996)Get more information
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Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling
Published in Prenatal diagnosis (01-08-1998)“…Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed…”
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Prenatal diagnosis of congenital human cytomegalovirus infection
Published in Prenatal diagnosis (01-10-1994)“…Fifteen fetuses at risk of congenital human cytomegalovirus (HCMV) infection underwent prenatal diagnosis at 16-30 weeks' gestation by a combination of…”
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Suspected fetal brain metallic embolic microfragment detected by MR imaging
Published in Prenatal diagnosis (01-02-2015)Get full text
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Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy
Published in Prenatal diagnosis (01-11-1993)“…Trisomy 12 mosaicism diagnosed at 16 weeks' amniocentesis in a 42-year-old woman was not confirmed at 18 weeks' gestational age in amniotic fluid or fetal…”
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