Zobrazeno 1 - 10 of 107 pro vyhledávání: '"Sophie, Dreux"'
1
Akademický článek
Antenatal description of large 4q13.2q21.23 deletion and outcomes
Autor: Anna‐Gaëlle Giguet‐Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie‐Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background 4q21 microdeletion syndrome is an emergent non‐recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in
Externí odkaz: https://doaj.org/article/6704bc2b360d4526a5cfba13553c780b
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2
Akademický článek
Comparison of the amniotic fluid and fetal urine peptidome for biomarker discovery in renal developmental disease
Autor: Camille Fédou, Benjamin Breuil, Igor Golovko, Stéphane Decramer, Pedro Magalhães, Françoise Muller, Sophie Dreux, Petra Zürbig, Julie Klein, Joost P. Schanstra, Bénédicte Buffin-Meyer
Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Abstract Production of amniotic fluid (AF) is view as predominately driven by excretion of fetal urine (FU). However, the origin of AF peptides, often considered as potential biomarkers of developmental diseases, has never been investigated. Here, we
Externí odkaz: https://doaj.org/article/428622a5f2e3402e83de58ba284e7d13
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3
Fetal intestinal loop dilatation: Follow-up and outcome of a series of 133 consecutive cases (DILDIG Study)
Autor: Raphaële, Mangione, Etienne, Voirin-Mathieu, Marianne, Yvert, Nicolas, Fries, Eve, Mousty, Vanina, Castaigne, Françoise, Muller, Sophie, Dreux
Publikováno v: Prenatal diagnosis.
To define the prognostic markers of fetal dilated bowel loops.National non-interventional study of 133 consecutive prenatal observations of dilated loops including ultrasound examinations, complementary laboratory tests, MRI, outcomes and postnatal d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d1a44446dd73a21d26d1774f6e2f1b4a
https://pubmed.ncbi.nlm.nih.gov/36604769
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4
Etiology and Outcome of Isolated Fetal Ascites
Autor: A Boutall, Alfred Abuhamad, Maria de Lourdes Brizot, Seth I. Berger, Ariel T. Levy, Huda B. Al-Kouatly, Rebecca Horgan, Ana M Angarita, Sophie Dreux, Julia A Youssef
Publikováno v: Obstetrics & Gynecology. 138:897-904
Objective To describe the etiology of isolated fetal ascites and associated perinatal outcomes, and to assess the progression of isolated fetal ascites to fetal hydrops. Data sources PubMed, Cochrane Library, Scopus, and ClinicalTrials.gov databases
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::60cde901eac061de93637badd73187ed
https://doi.org/10.1097/aog.0000000000004605
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5
[Discordant Down syndrome risk calculation with low maternal serum markers : about five cases of digynic triploidies]
Autor: Estelle, Roland, Etienne, Voirin-Mathieu, Simone, Verchain, Hubert, Odaert, Sophie, Dreux, Gilles, Renom
Publikováno v: Gynecologie, obstetrique, fertilitesenologie.
We compare the risk of Down syndrome among five patients carrying a foetus with digynic triploidy and suggest a course of action for these particular serological profiles. The concentrations of the different markers used are transformed into multiple
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::363b3bbb61c2b53af5e9f6eff2672dcb
https://pubmed.ncbi.nlm.nih.gov/36462714
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6
Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases
Autor: Jonathan Rosenblatt, Emmanuel Spaggiari, Laure Macraigne, Bichr Allaf, Sophie Dreux, Georges Dimitrov, Alexandre Fabre, Christophe Buffat
Publikováno v: Prenatal Diagnosis. 41:434-439
Objective Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ffd7f258fb7f363f5a25a7a4699595
https://doi.org/10.1002/pd.5878
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7
Evaluation of Sequential Urine Analysis when Selecting Candidates for Vesicoamniotic Shunting in Lower Urinary Tract Obstruction
Autor: Romain Favre, Sophie Dreux, Nicolas Sananès, Jonathan Rosenblatt, Françoise Muller, A. S. Weingertner, Antoine Koch, M. Kohler, Ariane Zaloszyc, Fernando Guerra
Publikováno v: Fetal Diagnosis and Therapy. 48:265-271
Objective: The objective of our study was to assess the utility of sequential fetal urine analysis in severe lower urinary tract obstruction (LUTO) when selecting cases suitable for vesicoamniotic shunting. Material and Methods: This was a retrospect
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf464ac3619be4f482970ab1c7285db
https://doi.org/10.1159/000514911
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8
Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases
Autor: Emmanuel Spaggiari, Sarah Taconet, Sophie Dreux, Bichr Allaf, Jonathan Rosenblatt, Fabien Guimiot, Suonavy Khung-Savatovsky, Magali Pettazzoni
Publikováno v: Prenatal Diagnosis. 40:605-611
Objectives There are many causes of fetal effusions, including the rare lysosomal storage diseases (LSDs). Vacuolated lymphocytes (VLs) are found in the blood of infants with LSDs, and their presence in fetal effusion could increase the risk of under
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2846cfd41b2e50be805e8d751220af5
https://doi.org/10.1002/pd.5657
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9
[Uncertainty of measurement and result from a complex calculation: about the risk of fetal Down's syndrome by maternal serum markers]
Autor: Estelle Roland, Etienne Voirin-Mathieu, Sophie Dreux, Gilles Renom
Publikováno v: Annales de biologie clinique. 80(1)
Screening for fetal Down's syndrome has the peculiarity of combining the biochemical assay of 2 or 3 serum markers with the risk associated with maternal age. If the accuracy of measurement of each parameter is known by the biologist, the uncertainty
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51fdfa126726991a0124b1feb3a522ed
https://pubmed.ncbi.nlm.nih.gov/35129443
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10
Cost-effectiveness threshold of first-trimester Down syndrome maternal serum screening for the use of cell-free DNA as a second-tier screening test
Autor: Corinne Sault, Stéphanie Léger, Charline Mourgues, Françoise Vendittelli, Sophie Dreux, Françoise Muller, Anne Debost-Legrand, Marie Blanquet, Didier Lémery, Hélène Laurichesse
Publikováno v: Annales de Biologie Clinique
Annales de Biologie Clinique, John Libbey Eurotext, 2021, 79 (4), pp.331-338. ⟨10.1684/abc.2021.1656⟩
Annales de Biologie Clinique, 2021, 79 (4), pp.331-338. ⟨10.1684/abc.2021.1656⟩
International audience; Introduction: We aimed to identify the most relevant cost-effectiveness threshold of first-trimester Down syndrome (DS) maternal serum screening (T21T1) for the use of cell-free DNA (cfDNA) as a second-tier test in the French
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74e173326927f914c9df486a2e468ef0
https://hal.uca.fr/hal-03439596/document
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