Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Fanny Pelluard"'
Autor:
Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrière
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-7 (2020)
Abstract Bi-allelic pathogenic variants in genes of the EIF2B family are responsible for Childhood Ataxia with Central nervous system Hypomyelination/Vanishing White Matter disease, a progressive neurodegenerative disorder of the central white matter
Externí odkaz:
https://doaj.org/article/8c691012645f42059f22d1f2c7825268
Autor:
Henriette Poaty, Fanny Pelluard, Mama Sy Diallo, Irène Patricia Lucienne Ondima, Gwenaelle André, Jacques François Silou-Massamba
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect is observed in Congolese hospita
Externí odkaz:
https://doaj.org/article/a6ffe07a62f741a8b54059e44bc40414
Autor:
Bénédicte Sudrié-Arnaud, Marine Legendre, Sarah Snanoudj, Fanny Pelluard, Soumeya Bekri, Abdellah Tebani
Publikováno v:
Genes, Vol 12, Iss 11, p 1828 (2021)
Congenital erythropoietic porphyria (CEP, OMIM #606938) is a severe autosomal recessive inborn error of heme biosynthesis. This rare panethnic disease is due to a deficiency of uroporphyrinogen III synthase (or cosynthase). Subsequently, its substrat
Externí odkaz:
https://doaj.org/article/a4d4b912c8f94bc299563a6021388e7b
Reduced placental telomere length during pregnancies complicated by intrauterine growth restriction.
Autor:
Jérôme Toutain, Martina Prochazkova-Carlotti, David Cappellen, Ana Jarne, Edith Chevret, Jacky Ferrer, Yamina Idrissi, Fanny Pelluard, Dominique Carles, Brigitte Maugey-Laulon, Didier Lacombe, Jacques Horovitz, Jean-Philippe Merlio, Robert Saura
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e54013 (2013)
OBJECTIVES: Recent studies have shown that telomere length was significantly reduced in placentas collected at delivery from pregnancies complicated by intrauterine growth restriction secondary to placental insufficiency. Placental telomere length me
Externí odkaz:
https://doaj.org/article/3867293fd28744f6b7c1a676ede12888
Autor:
Eva Kohaut, Flavie Ader, Caroline Rooryck, Fanny Pelluard, Maryse Bonnière, Gwenaelle André, Fanny Sauvestre, Philippe Roth, Diala Khraiche, Bettina Bessières, Tania Attié‐Bitach, Pascale Richard
Publikováno v:
Clinical Genetics.
Autor:
Audrey Lamouroux, Coralie Dauge, Constance Wells, Eve Mousty, Lucile Pinson, Hélène Cavé, Yline Capri, Jean‐Michel Faure, Frédéric Grosjean, Fanny Sauvestre, Tania Attié‐Bitach, Fanny Pelluard, David Geneviève
Publikováno v:
Prenatal Diagnosis. 42:574-582
The antenatal phenotypic spectrum of Noonan Syndrome (NS) requires better characterization.This multicenter retrospective observational included 16 fetuses with molecularly confirmed NS admitted for fetopathological examination between 2009 and 2016.
Autor:
Marion Poingt, Dominique Carles, Gwenaëlle André, Patrick Blanco, Aurélien Mattuizzi, Loïc Sentilhes, Clémence Houssin, Estibaliz Lazaro, Fanny Sauvestre, Fanny Pelluard
Publikováno v:
American Journal of Surgical Pathology. 44:1367-1373
Chronic intervillositis of unknown etiology (CIUE) is a rare placental disease characterized by intervillous infiltration of maternal macrophages and associated with poor pregnancy outcomes and a high risk of recurrence in subsequent pregnancies. Its
Autor:
Bernard Gasser, Fabienne Allias, Anne-Claude Riera, Pierre-Adrien Bolze, Louise Devisme, Touria Hajri, Sophie Patrier, Fanny Pelluard, Pascale Marcorelles, Mojgan Devouassoux-Shisheboran, François Golfier, Lucie Gaillot-Durand, Jérôme Massardier, Claire Mauduit, Jacqueline Aziza
Publikováno v:
Human Pathology. 101:18-30
p57 immunostaining is performed on hydropic products of conception to diagnose hydatidiform moles (HMs), which can progress to gestational trophoblastic neoplasia. Partial hydatidiform mole (PHM) and hydropic abortion (HA) display positive staining i
Autor:
Marianne Begorre, Daniel Cailliez, Claire Beneteau, Pierre Chenal, Thierry Frebourg, Guillaume Benoist, François Lecoquierre, Raphaele Mangione, Florence Petit, Nicolas Gruchy, Louise Devisme, Sophie Patrier, Juliette Coursimault, Fanny Pelluard, Hubert Journel, Bénédicte Gérard, Marion Gérard, Pascale Saugier-Veber, Valérie Layet, Alain Liquier, Corinne Jeanne, Mirjam M. de Jong, Nadia Tillouche, Anne Bazin, Gaël Nicolas, Conny M. A. van Ravenswaaij-Arts, Anne-Claire Brehin, Wilfrid Finck, Sophie Coutant, Sophie Degre, Christine Francannet, Madeleine Joubert, Hélène Laurichesse Delmas
Publikováno v:
Human Mutation
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Full access; International audience; Sirenomelia is a rare severe malformation sequence of unknown cause characterized by fused legs and severe visceral abnormalities. We present a series of nine families including two rare familial aggregations of s
Autor:
Thibault Coste, Catherine Vincent‐Delorme, Morgane Stichelbout, Louise Devisme, Antoinette Gelot, Igor Deryabin, Fanny Pelluard, Chaker Aloui, Anne‐Louise Leutenegger, Jean‐Marie Jouannic, Delphine Héron, Douglas B Gould, Elisabeth Tournier‐Lasserve
Publikováno v:
Prenatal diagnosisREFERENCES. 42(5)
Variants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics have not been established in a large series of fetuses. Fetal neonatal alloimmune thrombocytopenia is a major acq