Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Autor: Marta Massimello, Delphine Héron, Tania Attié-Bitach, Myrtille Spentchian, Anne Faudet, Marie-Amélie Rocchisanni, Laurent Mandelbrot, Alexandra Benachi, Julien Saada, Florence Bretelle, Stéphanie Friszer, Paul Maurice, Catherine Garel, Julien Buratti, Mathilde Nizon, Valérie Layet, Jean-Marie Jouannic, Thierry Billette de Villemeur, Corinne Mach, Mathieu Milh, Lucie Guilbaud, Stéphanie Valence, Agnès Guët, Genevieve Quenum‐Miraillet, Sébastien Moutton, Rodolphe Dard, Sandra Chantot-Bastaraud, Valérie Olin, Magali Gorce, Daphné Lehalle, Marta Spodenkiewic, Marie-Laure Moutard, Linda Mouthon, Solveig Heide, Elodie Lejeune, Vassili Tsatsaris, Claire Beneteau, Marie Vincent, Laurent Guibaud, Sandra Whalen, Cyril Mignot, Vincent des Portes, Eléonore Blondiaux, Mathilde Lefebvre, Audrey Putoux, Boris Keren

Publikováno v: Genetics in Medicine
Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩

International audience; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnosti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0322356e1f172baed1f1a77a7d76a05
https://doi.org/10.1038/s41436-020-0872-8

New insights in cerebral findings associated with fetal myelomeningocele: a retrospective cohort study in a single tertiary centre

Autor: Catherine Garel, Juliette Garel, Paul Maurice, Ferdinand Dhombres, Lucie Guilbaud, Stéphanie Friszer, Emeline Maisonneuve, H. Ducou Le Pointe, J.-M. Jouannic, Eléonore Blondiaux

Publikováno v: BJOG: An International Journal of Obstetrics and Gynaecology
BJOG: An International Journal of Obstetrics and Gynaecology, Wiley, 2021, 128 (2), pp.376-383. ⟨10.1111/1471-0528.16185⟩

International audience; Objective: To investigate cerebral anomalies other than Chiari type 2 malformation in fetuses with myelomeningocele (MMC).Design: A retrospective cohort study in a single tertiary centre.Setting: A review of associated cerebra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a319ef4da7652fff48436f05c26639
https://hal.sorbonne-universite.fr/hal-03263489

[Optimizing training in limited obstetric ultrasound for midwives through a combination of e-learning and simulation]

Autor: R, Zimmermann, E, Mousty, P, Mares, V, Letouzey, S, Huberlant

Publikováno v: Gynécologie Obstétrique Fertilité & Sénologie
Gynécologie Obstétrique Fertilité & Sénologie, Elsevier, 2019, 47 (12), pp.836-840. ⟨10.1016/j.gofs.2019.10.010⟩

International audience; Objective: To evaluate a training program in limited obstetric ultrasound, combining e-learning and simulation.Methods: This a descriptive cohort study in Single-center study conducted in a French university hospital. Thirty-t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8e179e226b16a3387b2d9646f0a88034
https://hal.umontpellier.fr/hal-02774614

[Diagnosis of rupture of fetal membranes: CNGOF Preterm Premature Rupture of Membranes Guidelines]

Autor: Gallot, D.

Publikováno v: Gynécologie Obstétrique Fertilité & Sénologie
Gynécologie Obstétrique Fertilité & Sénologie, Elsevier, 1970, 46 (12), pp.1022-1028. ⟨10.1016/j.gofs.2018.10.014⟩
Gynécologie Obstétrique Fertilité & Sénologie, 1970, 46 (12), pp.1022-1028. ⟨10.1016/j.gofs.2018.10.014⟩

To describe clinical and paraclinical tests diagnosing rupture of fetal membranes (ROM).Bibliographic search over the period 1980-2017 considering articles in French and English as well as guidelines from national obstetrical societies.Typical amniot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7a9f5679fc55a9ff60b091fc9d4b2f36
https://pubmed.ncbi.nlm.nih.gov/30392990

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations

Autor: Rosa Vargas-Poussou, Marguerite Hureaux, Anne Hélène Saliou, Laurence Heidet, Alexandra Benachi, Emmanuel Spaggiari, Rémi Salomon, Arnaud Molin, Nadine Jay

Publikováno v: Pediatric Nephrology
Pediatric Nephrology, Springer Verlag, 2018, 33 (10), pp.1723-1729. ⟨10.1007/s00467-018-3998-z⟩

Prenatal diagnosis of hyperechogenic kidneys is associated with a wide range of etiologies and prognoses. The recent advances in fetal ultrasound associated with the development of next-generation sequencing for molecular analysis have enlarged the s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::488050b5d1384893e6d9d614ef29b060
https://pubmed.ncbi.nlm.nih.gov/29959532