Search Results - "Adama, N"
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Fetal megacystis: a lot more than LUTO
Published in Ultrasound in obstetrics & gynecology (01-06-2019)“…ABSTRACT Objective Fetal megacystis presents a challenge in terms of counseling and management because of its varied etiology and evolution. The aim of this…”
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2
Antenatal staging of congenital lower urinary tract obstruction
Published in Ultrasound in obstetrics & gynecology (01-04-2019)“…ABSTRACT Objective To propose a staging system for congenital lower urinary tract obstruction (LUTO) capable of predicting the severity of the condition and…”
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3
Prenatal diagnosis of LUTO: improving diagnostic accuracy
Published in Ultrasound in obstetrics & gynecology (01-12-2018)“…ABSTRACT Objective To propose a clinical score for the optimal antenatal diagnosis of fetal lower urinary tract obstruction (LUTO) in the second and third…”
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4
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication
Published in American journal of medical genetics. Part A (01-02-2021)“…Intracerebral hemorrhage is rare in term born neonates. Besides several non‐genetic risk factors, pathogenic variants in COL4A1 and COL4A2 have been described…”
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5
Prenatal exome sequencing: A useful tool for the fetal neurologist
Published in Clinical genetics (01-01-2022)“…Prenatal exome sequencing (pES) is a promising tool for diagnosing genetic disorders when structural anomalies are detected on prenatal ultrasound. The aim of…”
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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
Published in Genetics in medicine (01-10-2019)“…Purpose Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic…”
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7
Machine Learning Approach for Chronic Kidney Disease Risk Prediction Combining Conventional Risk Factors and Novel Metabolic Indices
Published in Applied sciences (01-12-2022)“…Patients at risk of chronic kidney disease (CKD) must be identified early and precisely in order to prevent complications, save lives, and limit expenditures…”
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Prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO)—Development and internal validation
Published in Prenatal diagnosis (01-12-2019)“…Objective To develop a prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO) based on fetal ultrasound parameters…”
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Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy
Published in Fetal diagnosis and therapy (01-03-2019)“…To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment…”
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10
Fetal megacystis: prediction of spontaneous resolution and outcome
Published in Ultrasound in obstetrics & gynecology (01-10-2017)“…Objectives To investigate the natural history of fetal megacystis from diagnosis in utero to postnatal outcome, and to identify prognostic indicators of…”
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11
Single Molecule Sequencing of Free DNA from Maternal Plasma for Noninvasive Trisomy 21 Detection
Published in Clinical chemistry (Baltimore, Md.) (01-04-2012)“…Noninvasive fetal aneuploidy detection by use of free DNA from maternal plasma has recently been shown to be achievable by whole genome shotgun sequencing. The…”
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Fetal cerebellar hemorrhage: three cases with postnatal follow‐up
Published in Ultrasound in obstetrics & gynecology (01-06-2016)Get full text
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13
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance
Published in Brain (London, England : 1878) (01-11-2017)Get full text
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14
Successful noninvasive trisomy 18 detection using single molecule sequencing
Published in Clinical chemistry (Baltimore, Md.) (01-04-2013)“…Noninvasive trisomy 21 detection performed by use of massively parallel sequencing is achievable with high diagnostic sensitivity and low false-positive rates…”
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15
Fluid shift from intravascular compartment during fetal red blood cell transfusion
Published in Ultrasound in obstetrics & gynecology (01-05-2013)“…ABSTRACT Objectives Intrauterine transfusion imposes a considerable burden on the fetal circulation by increasing volume and pressure, and a fluid shift from…”
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16
Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report
Published in Clinical case reports (01-10-2015)“…Key Clinical Message Hemolytic anemia due to GPI deficiency can be severe and life threatening during fetal life. When parents decline invasive testing,…”
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Persistent Fetal Sinus Bradycardia Associated with Maternal Anti-SSA/Ro and Anti-SSB/La Antibodies
Published in Journal of rheumatology (01-12-2011)“…To study the clinical course and outcome of fetal sinus bradycardia (SB) due to maternal antibody-induced sinus node dysfunction. We reviewed the maternal,…”
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Fetal stress hormone changes during intrauterine transfusions
Published in Prenatal diagnosis (01-06-2011)“…Objective To document fetal stress hormone and Doppler changes after intrauterine transfusions (IUTs) in either the intrahepatic portion of the umbilical vein…”
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Yoga complemented cognitive behavioral therapy on job burnout among teachers of children with autism spectrum disorders
Published in Medicine (Baltimore) (04-06-2021)“…Job burnout is a syndrome of reaction to chronic job-related stress which affects overall health, limits occupational efficacy, and personal accomplishments of…”
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Outcome of isolated gastroschisis; an international study, systematic review and meta-analysis
Published in Early human development (01-12-2016)“…Abstract Objective To determine outcome of children born with isolated gastroschisis (no extra-gastrointestinal congenital abnormalities). Study design…”
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