Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Aline Receveur"'
Autor:
Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga, Aline Receveur, Fernando Martin, Detlef Trost
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
We report an index patient with complete insensitivity to pain and a history of painless fractures, joint hypermobility, and behavioral problems. The index patient descends from a family with notable cases among his maternal relatives, including his
Externí odkaz:
https://doaj.org/article/75404f07759d4b46944b978c0e7573c8
Autor:
Celine Chalas, Aline Receveur, Nelly Frydman, Nathalie Massin, Gerard Tachdjian, Veronique Drouineaud, Alexandra Benachi, Catherine Patrat, Francois Michael Petit
Publikováno v:
Basic and Clinical Andrology, Vol 30, Iss 1, Pp 1-6 (2020)
Résumé Contexte La mise en évidence d’une mosaïque germinale est. un événement rare mais probablement sous-estimé du fait de l’accès limité aux cellules germinales. Les variations génomiques caractéristiques de ce phénomène peuvent
Externí odkaz:
https://doaj.org/article/78ee1189a2164bb3a036f6d8ed754152
Autor:
Aline Receveur, Sophie Brisset, Jelena Martinovic, Anne Bazin, Laurence Lhomann, Claire Colmant, Dominique Pineau, Valérie Gautier, Lucie Tosca, Gérard Tachdjian
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 5, Pp 677-680 (2017)
Objective: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We de
Externí odkaz:
https://doaj.org/article/9cc396e8bdc94153a7c1700d2bb86434
Autor:
Guillaume Jedraszak, Aline Receveur, Joris Andrieux, Michèle Mathieu-Dramard, Henri Copin, Gilles Morin
Publikováno v:
Case Reports in Genetics, Vol 2015 (2015)
Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable
Externí odkaz:
https://doaj.org/article/223d89fc6b9448c4a8997cfba847f788
Autor:
Marie Boisson, Anne‐Gael Cordier, Jelena Martinovic, Aline Receveur, Aurélie Mouka, Romain Diot, Catherine Egoroff, Geoffroy Esnault, Loïc Drévillon, Alexandra Benachi, Gérard Tachdjian, Lucie Tosca
Publikováno v:
Prenatal Diagnosis. 42:1627-1635
The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases of CDH remains unclear.
Autor:
Floriane Lejamtel, Cécile Oheix, Elisa Morales, Jelena Martinovic, Philippe Labrune, François Mickaël Petit, Aline Receveur, Nelly Achour‐Frydman, Alexandra Benachi, Chloé Puisney‐Dakhli, Alexandre Joseph Vivanti
Publikováno v:
Clinical geneticsREFERENCES.
Increasing interest regarding neurodevelopmental disorders and democratization of chromosomal microarray analysis have led to growing identification of neuro-susceptibility copy number variations (CNVs). These CNVs have incomplete penetrance and vari
Autor:
Aline Receveur, Chloé Puisney-Dakhli, Pascale Kleinfinger, Laurence Gitz, Julie Grevoul-Fesquet, Dima Jouni, Romain Diot, Gérard Tachdjian, François Petit
Publikováno v:
Taiwanese Journal of Obstetrics and Gynecology. 61:382-384
Autor:
Chloé Puisney-Dakhli, G Tachdjian, Hanane Bouchghoul, Francesca Gubana, Valérie Gautier, Aline Receveur, Francois Michael Petit, Jelena Martinovic
Publikováno v:
American Journal of Medical Genetics Part A. 185:1494-1497
First trimester ultrasound screening is an essential fetal examination performed generally at 11-13 weeks of gestation (WG). However, it does not allow for an accurate description of all fetal organs, partly due to their development in progress. Mean
Autor:
Nathalie Massin, Alexandra Benachi, Véronique Drouineaud, G Tachdjian, Céline Chalas, Nelly Frydman, Catherine Patrat, Aline Receveur, Francois Michael Petit
Publikováno v:
Basic and Clinical Andrology, Vol 30, Iss 1, Pp 1-6 (2020)
Basic and Clinical Andrology
Basic and Clinical Andrology
Germline mosaicism is considered to be a rare event. However, its occurrence is underestimated due to the limited availability of germ cells. The genomic variations that underlie this phenomenon comprise single nucleotide polymorphism (SNPs), copy nu
Autor:
Jérôme Massardier, Valérie Goua, Aline Receveur, Pascale Kleinfinger, Isabelle Monier, Véronique Houfflin-Debarge, Florent Fuchs, Anne-Hélène Saliou, Guillaume Benoist, Marion Groussolles, Anne-Sylvie Valat, Alexandra Benachi, Sophie Degre, Jennifer Zeitlin, Vanina Castaigne, Jean-Marie Jouannic, Hanane Bouchghoul, Vassilis Tsatsaris, Eve Mousty, Thierry Rousseau
Publikováno v:
American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2021, 225 (6), pp.676.e1-676.e15. ⟨10.1016/j.ajog.2021.05.035⟩
American Journal of Obstetrics and Gynecology, 2021, 225 (6), pp.676.e1-676.e15. ⟨10.1016/j.ajog.2021.05.035⟩
International audience; Background: Compared with standard karyotype, chromosomal microarray analysis improves the detection of genetic anomalies and is thus recommended in many prenatal indications. However, evidence is still lacking on the clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36e5adee5c800b8cd1e46765bb0ef9f6
https://www.hal.inserm.fr/inserm-03617447
https://www.hal.inserm.fr/inserm-03617447