S
Sophie Patrier
Researcher at BioMérieux
Publications - 41
Citations - 1089
Sophie Patrier is an academic researcher from BioMérieux. The author has contributed to research in topics: Choriocarcinoma & Pregnancy. The author has an hindex of 15, co-authored 36 publications receiving 876 citations. Previous affiliations of Sophie Patrier include Pierre-and-Marie-Curie University.
Papers
More filters
Journal ArticleDOI
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux,Sophie Thomas,Karlien L.M. Coene,Erica E. Davis,Yasemin Alanay,Gönöl Ogur,Elif Uz,Daniela Buzas,Céline Gomes,Sophie Patrier,Christopher L. Bennett,Nadia Elkhartoufi,Marie Hélène Saint Frison,Luc Rigonnot,N. Joye,Solenn Pruvost,Gülen Eda Utine,Koray Boduroğlu,Patrick Nitschke,L. Fertitta,Christel Thauvin-Robinet,Arnold Munnich,Valérie Cormier-Daire,Raoul C.M. Hennekam,Estelle Colin,Nurten A. Akarsu,Christine Bole-Feysot,Nicolas Cagnard,Alain Schmitt,Nicolas Goudin,Stanislas Lyonnet,Férechté Encha-Razavi,Jean Pierre Siffroi,Mark Winey,Nicholas Katsanis,Marie Gonzales,Michel Vekemans,Philip L. Beales,Tania Attié-Bitach +38 more
TL;DR: In this article, the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies.
Journal ArticleDOI
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
Louise Devisme,C. Bouchet,Marie Gonzales,Elisabeth Alanio,Anne Bazin,Bettina Bessières,Nicole Bigi,Patricia Blanchet,Dominique Bonneau,Maryse Bonnières,Martine Bucourt,Dominique Carles,B. Clarisse,Sophie Delahaye,Catherine Fallet-Bianco,Dominique Figarella-Branger,Dominique Gaillard,Bernard Gasser,Anne-Lise Delezoide,Fabien Guimiot,Madeleine Joubert,Nicole Laurent,Annie Laquerrière,Agnès Liprandi,Philippe Loget,Pascale Marcorelles,Jelena Martinovic,Françoise Menez,Sophie Patrier,Fanny Pelluard,Marie-José Perez,Caroline Rouleau,Stéphane Triau,Tania Attié-Bitach,Sandrine Vuillaumier-Barrot,Nathalie Seta,Férechté Encha-Razavi +36 more
TL;DR: It is concluded that cobblestone lissencephaly encompasses three distinct subtypes of cortical malformations with different degrees of neuroglial ectopia into the arachnoid space and cortical plate disorganization regardless of gestational age.
Journal ArticleDOI
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation†
Soumaya Mougou-Zerelli,Sophie Thomas,Emmanuelle Szenker,Sophie Audollent,Nadia Elkhartoufi,Candice Babarit,S. Romano,Rémi Salomon,Jeanne Amiel,Chantal Esculpavit,Marie Gonzales,Estelle Escudier,B. Leheup,Philippe Loget,Sylvie Odent,Joelle Roume,Marion Gérard,Anne Lise Delezoide,Suonavy Khung,Sophie Patrier,Marie Pierre Cordier,Raymonde Bouvier,Jelena Martinovic,Marie Claire Gubler,Nathalie Boddaert,Arnold Munnich,Férechté Encha-Razavi,Enza Maria Valente,Ali Saad,Sophie Saunier,Michel Vekemans,Tania Attié-Bitach +31 more
TL;DR: The results indicate phenotype–genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS.
Journal ArticleDOI
PD-L1 Expression in Premalignant and Malignant Trophoblasts From Gestational Trophoblastic Diseases Is Ubiquitous and Independent of Clinical Outcomes.
Pierre-Adrien Bolze,Sophie Patrier,Jérôme Massardier,Touria Hajri,Fatima Abbas,Anne-Marie Schott,Fabienne Allias,Mojgan Devouassoux-Shisheboran,Gilles Freyer,François Golfier,Benoit You +10 more
TL;DR: It is confirmed that PD-L1 is constitutively expressed in all GTD premalignant and malignant trophoblast subtypes, independently from FIGO score, chemoresistance, or fatal outcomes, thereby suggesting a crucial role for PD- L1 in the development and tolerance of GTD.
Journal ArticleDOI
Molecular heterogeneity in fetal forms of type II lissencephaly.
C. Bouchet,Marie Gonzales,Sandrine Vuillaumier-Barrot,Louise Devisme,C. Lebizec,E. Alanio,Anne Bazin,Bettina Bessieres-Grattagliano,N. Bigi,Patricia Blanchet,Dominique Bonneau,Maryse Bonnières,Dominique Carles,S. Delahaye,Catherine Fallet-Bianco,Dominique Figarella-Branger,Dominique Gaillard,B. Gasser,Fabien Guimiot,Madeleine Joubert,Nicole Laurent,A. Liprandi,Philippe Loget,Pascale Marcorelles,Jelena Martinovic,F. Menez,Sophie Patrier,F. Pelluard-Nehmé,M.J. Perez,C. Rouleau-Dubois,S. Triau,Annie Laquerrière,Férechté Encha-Razavi,Nathalie Seta +33 more
TL;DR: Preliminary results concerning genotype–phenotype correlations show that the choice of the first gene sequenced should depend on the clinical severity of the type II LIS; POMT1 and PomT2 for severest clinical picture and POMGNT1 for milder disease.