Search Results - "Staraci, Stéphanie"
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Adnexal torsion: a predictive score for pre-operative diagnosis
Published in Human reproduction (Oxford) (01-09-2010)“…BACKGROUND Adnexal torsion (AT) is difficult to diagnose and requires immediate surgery. The aim of this study was to develop a simple score for assisting in…”
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Comparison of patient- and physician-based descriptions of symptoms of endometriosis: a qualitative study
Published in Human reproduction (Oxford) (01-10-2013)“…STUDY QUESTION How do fully-comprehensive patient-centred descriptions of the symptoms of endometriosis compare with the physicians’ description of the…”
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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
Published in European journal of human genetics : EJHG (01-09-2024)“…Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe…”
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Prenatal molecular diagnosis in RASA1‐related disease
Published in Prenatal diagnosis (01-12-2017)“…RASA1‐related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs), and/or arteriovenous…”
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Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
Published in Neurology. Genetics (01-02-2021)“…We aimed to describe the population of subjects seeking presymptomatic counseling for amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS/FTD)…”
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The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol
Published in Frontiers in genetics (04-04-2022)“…Like other countries, France has invested in a national medical genomics program. Among the four pilot research studies, the DEFIDIAG project focuses on the…”
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Prenatal molecular diagnosis in RASA1 -related disease
Published in Prenatal diagnosis (01-12-2017)Get full text
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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study
Published in Journal of clinical medicine (06-05-2020)“…Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little…”
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J5 Outcome in 25% at-risk individuals after presymptomatic testing for huntington’s disease
Published in Journal of neurology, neurosurgery and psychiatry (01-09-2016)“…BackgroundTesting for Huntington’s disease (HD) is usually restricted to individuals at 50% risk in whom the parent is diagnosed with HD. An individual at 25%…”
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Devenir d'une survivance du prénatal dans le cas du syndrome transfuseur-transfusé
Published in La Psychiatrie de l'enfant (2012)“…RésuméCet article a pour objectif de connaître le devenir de 58 familles (58 jumeaux et 29 singletons), six ans après le diagnostic anténatal d’un syndrome…”
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Long-term neurodevelopmental outcome in twin-to-twin transfusion syndrome in the eurofoetus trial
Published in American journal of obstetrics and gynecology (01-12-2006)Get full text
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