Assessing retinal hemorrhages with non-invasive post-mortem fundus photographs in sudden unexpected death in infancy

Autor: Jean-Baptiste Ducloyer, Cloé Scherpereel, Thomas Goronflot, Guylène Le Meur, Pierre Lebranchu, Frédérique Jossic, Virginie Scolan, Mathilde Ducloyer

Publikováno v: International Journal of Legal Medicine. 137:913-923

Introduction In the case of sudden unexpected death in infancy (SUDI), eye examination is systematic to detect retinal hemorrhages (RH) that are a crucial hallmark for abusive head trauma (AHT). The aim of this study is to assess the ability of non-i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::01e828c18ce307db309c13000aaf5016
https://doi.org/10.1007/s00414-023-02964-9

Severe X-linked chondrodysplasia punctata in nine new female fetuses

Autor: Nadège Gigot, Julie Désir, Jean-Baptiste Rivière, Marie Gonzales, N. Joye, Bernard Aral, Dominique D'Olne, Frédérique Jossic, Caroline Daelemans, Anne-Lise Delezoide, Valérie Cormier-Daire, Alice Masurel-Paulet, Annick Toutain, Claude Vibert-Guigue, Judith Saint-Onge, Julien Thevenon, Sébastien Schmitt, Jean-Marc Labaune, Laurence Faivre, Antonin Lamaziere, Fabienne Dufernez, Fanny Pelluard, Nicole Bigi, Mathilde Lefebvre, Thierry Rousseau, Raphaele Mangione, Pierre Vabres, P. Herve, Sophie Blesson, Ange-Line Bruel, Luc Rigonnot, Christel Thauvin-Robinet, Salima El Chehadeh, Nicole Laurent, Catherine Vincent-Delorme

Publikováno v: Prenatal Diagnosis. 35:675-684

ObjectivesConradi-Hunermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::23b93b088c2483ca6160b9a219642c9a
https://doi.org/10.1002/pd.4591

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Autor: Frédérique Jossic, Férecheté Razavi, Dominique Gaillard, Louise Devisme, Anne-Lise Delezoide, Carla Fernandez, Madeleine Joubert, Jelena Martinovic, Blandine Fabre, Nathalie Drouot, Homa Adle-Biassette, Marie Gonzales, Mario Tosi, Martine Bucourt, Dominique Carles, Nicole Laurent, Bettina Bessières, Martine Sinico, Annie Laquerrière, Daniel Satge, Thierry Frebourg, Sophie Blesson, Jacques Benichou, Philippe Loget, Marie-José Perez, Catherine Fallet-Bianco, Anne-Marie Beaufrère, Anne Bazin, Pierre Gressens, Pascale Saugier-Veber, Laurence Loeuillet, Frédérique Dijoud, Brigitte Leroy, Pascale Marcorelles

Publikováno v: Acta Neuropathologica
Acta Neuropathologica; Vol 126

L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiology is incompletely understood. The aim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1017f3d086770bbc7175dcbadcc562be
https://doi.org/10.1007/s00401-013-1146-1

TCTN3 Mutations Cause Mohr-Majewski Syndrome

Autor: Colin A. Johnson, Valérie Cormier-Daire, Maryse Bonnière, Christel Thauvin-Robinet, Soumaya Mougou-Zerelli, Annick Toutain, Sophie Saunier, Stanislas Lyonnet, Laurence Loeuillet, Bettina Bessières, Sophie Thomas, Christine Bole-Feysot, Marine Legendre, Marie-Anne Barthez, Yves Ville, Tania Attié-Bitach, Caroline Alby, Katarzyna Szymanska, Frédérique Jossic, Patrick Nitschke, Albert David, Dominique Gaillard, M. T. Yacoubi, Michel Vekemans, Férechté Encha-Razavi, Arnold Munnich

Publikováno v: The American Journal of Human Genetics. 91(2):372-378

Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70e1b6f9f3d010051e01e2d83bb9acf2

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Autor: Laurence Loeuillet, Karine Poirier, Annie Laquerrière, Nicole Revencu, Fabien Guimiot, Ferechté Razavi, Jamel Chelly, Nathalie Carion, Maryse Marcy-Bonnière, Marie-Claude Addor, Bettina Bessières, Jelena Martinovich, Benoit Lhermitte, Cherif Beldjord, Pascale Marcorelles, Aurélie Toussaint, Philippe Loget, Karine Lascelles, Nadia Bahi-Buisson, Catherine Fallet-Bianco, Frédérique Jossic, Marie Gonzales, Patricia Dias

Publikováno v: Acta Neuropathologica Communications
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2014, 2 (1), pp.69. ⟨10.1186/2051-5960-2-69⟩
Acta Neuropathologica Communications, vol. 2, pp. 69
Acta Neuropathologica Communications, 2014, 2 (1), pp.69. ⟨10.1186/2051-5960-2-69⟩
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2014, 2 (1), pp.69. 〈10.1186/2051-5960-2-69〉

Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0fe863224f4e0582771a2b0d442bcee
https://www.hal.inserm.fr/inserm-01089369