Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Isabelle Sabatier"'
Autor:
Paul C. Marcogliese, Samantha L. Deal, Jonathan Andrews, J. Michael Harnish, V. Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei-Chu Huang, Colleen M. Longley, Hsiao-Tuan Chao, Hyung-lok Chung, Nele A. Haelterman, Oguz Kanca, Sathiya N. Manivannan, Linda Z. Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frederic Tran Mau-Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto
Publikováno v:
Cell Reports, 38(11):110517. Cell Press
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444111bda1ed722613ad9800aa33c493
https://doi.org/10.1016/j.celrep.2022.110517
https://doi.org/10.1016/j.celrep.2022.110517
Autor:
Pei-Tseng Lee, Hyunglok Chung, J. Michael Harnish, Nicolas Chatron, Marieke F. van Dooren, Colleen M. Longley, Ning Liu, Michael F. Wangler, Sharayu Jangam, Sathiya N. Manivannan, Hsiao-Tuan Chao, Shinya Yamamoto, Hongling Pan, Xi Luo, Alfredo Brusco, Isabelle Sabatier, Martina Wilke, Oguz Kanca, Lisa Pavinato, Eleina M. England, Eva Maria Christina Schwaibold, Danqing Bei, Ronit Marom, Annalisa Vetro, Yu-Hsin Chao, Paul C. Marcogliese, Tahsin Stefan Barakat, Jill A. Rosenfeld, Gaetan Lesca, Samantha L. Deal, V Hemanjani Bhavana, Pankaj B. Agrawal, Brooke Hull, Amanda Gerard, Catherine A. Brownstein, Linda Z. Rossetti, Hillary K. Graves, Jonathan C. Andrews, Chaya N. Murali, Renzo Guerrini, Jill A. Madden, Nele A Haelterman, Roberto Keller, Marjon van Slegtenhorst
SummaryIndividuals with autism spectrum disorders (ASD) exhibit an increased burden ofde novovariants in a broadening range of genes. We functionally tested the effects of ASD missense variants usingDrosophilathrough ‘humanization’ rescue and ove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15687904b86384418e0e2659f5215cf8
https://doi.org/10.1101/2020.12.30.424813
https://doi.org/10.1101/2020.12.30.424813
Autor:
Gaël Nicolas, Yline Capri, Alban Ziegler, Christiane Zweier, Bénédicte Duban-Bedu, Roberta Polli, Neda Mazaheri, Alessandra Murgia, Cindy Colson, Pascale Saugier-Veber, Reza Maroofian, Laurence Perrin, François Lecoquierre, Stephan Waldmüller, Benjamin Cogné, Angelika Rieß, A.S. Lebre, M. Brasseur-Daudruy, Bert Callewaert, Antje Wiesener, Anne-Marie Guerrot, Thierry Frebourg, Thomas Smol, Benjamin Durand, Rebecca Buchert-Lo, Veronka Horber, Tobias B. Haack, Patrick Edery, Gabriella Vera, Gaetan Lesca, Geoffroy Delplancq, Sandra Mercier, Christopher Carroll, Maria Blandfort, Khaoula Zaafrane-Khachnaoui, Hamid Galehdari, Emanuela Leonardi, Arthur Sorlin, Fabienne Giulianno, Isabelle Sabatier, Florence Petit, Licia Turolla, Nicolas Chatron, Amélie Piton, Janine Magg, Estelle Colin, Stéphane Bézieau, Dominique Bonneau
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩
European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩
De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68443eb210ac2cf30fc6fb87c9f8cf57
https://hal.archives-ouvertes.fr/hal-02904491
https://hal.archives-ouvertes.fr/hal-02904491
Autor:
Frederic Hameury, Federico Di Rocco, Isabelle Sabatier, I. Poirot, Pierre-Aurélien Beuriat, Alexandru Szathmari, Carmine Mottolese, Christophe Rousselle
Publikováno v:
World Neurosurgery. 110:e24-e31
Introduction Myelomeningocele (MMC) is a complex neural tube defect. Few studies report the results of modern postnatal management. The goal of this study was to report the long-term outcome of a multidisciplinary approach of patients with MMC. Metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2fd88cd42e96222cb458ebb5e3a8ac
https://doi.org/10.1016/j.wneu.2017.09.169
https://doi.org/10.1016/j.wneu.2017.09.169
Autor:
Lucile Cattiaux, Alexandru Szathmari, Carmine Mottolese, Laurent Guibaud, Christophe Rousselle, Isabelle Sabatier, Federico Di Rocco, Pierre-Aurélien Beuriat
Publikováno v:
World Neurosurgery. 124:98-100
Misoprostol is often used for termination of pregnancy in France and others countries. However, some pregnancies are continued after taking the drug and congenital malformations are known to be the consequence of fetal exposure to misoprostol, among
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::461694ac90ee47d27198855257783409
https://doi.org/10.1016/j.wneu.2018.12.177
https://doi.org/10.1016/j.wneu.2018.12.177
Complete Reversibility of the Chiari Type II Malformation After Postnatal Repair of Myelomeningocele
Autor:
Pierre-Aurélien Beuriat, Federico Di Rocco, Isabelle Sabatier, Carmine Mottolese, Christophe Rousselle, Alexandru Szathmari
Publikováno v:
World Neurosurgery. 108:62-68
Objective It was believed that Chiari type II malformation (CM-II) was always present in a myelomeningocele (MMC). In fact, it is associated in about 80% of cases. Improvement of the hindbrain herniation after prenatal closure of MMC has challenged t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b6f7b64d2a761547ed2b35291f61383
https://doi.org/10.1016/j.wneu.2017.08.152
https://doi.org/10.1016/j.wneu.2017.08.152
Autor:
Isabelle Sabatier
Publikováno v:
Cahiers de la Puéricultrice. 55:20-22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4907d62862e289e96ab4244ee7a917c6
https://doi.org/10.1016/j.cahpu.2018.07.008
https://doi.org/10.1016/j.cahpu.2018.07.008
Autor:
Pierre-Aurélien Beuriat, Carmine Mottolese, Christophe Rousselle, Federico Di Rocco, Laura-Nanna Lohkamp, Alexandru Szathmari, Isabelle Sabatier
Publikováno v:
World neurosurgery. 129
Background In pediatric cases, the use of autologous bone tissue to repair cranial bone defects is often impossible. The synthetic hydroxyapatite bone substitute (CustomBone) can be a good alternative, especially in case of a large bone defect that h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b4fb24448ff8f1240b899ca03831373
https://pubmed.ncbi.nlm.nih.gov/31100525
https://pubmed.ncbi.nlm.nih.gov/31100525
Autor:
Damien Sanlaville, Linda Pons, Isabelle Sabatier, Marie Faoucher, Audrey Labalme, Gaetan Lesca, Eudeline Alix
Publikováno v:
European Journal of Medical Genetics. 63:103994
PIGC (OMIM 601730 ) encodes the PIGC protein, which is part of an enzyme complex involved in the biosynthesis of the glycosylphosphatidylinositol protein anchor. The other proteins in the complex include PIGA, PIGH, PIGQ, PIGY, PIGP and DPM2. Homozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b468ded980038c3ab10739be8f17929
https://doi.org/10.1016/j.ejmg.2020.103994
https://doi.org/10.1016/j.ejmg.2020.103994
Autor:
Amy Crunk, Delphine Héron, Gretchen Parsons, Caroline Nava, Paul R. Mark, Richard E. Person, John M. Graham, Hannah Warren, Parul Jayakar, Lise Larcher, Marwan Shinawi, Sandra Whalen, Audrey Putoux, Kathryn G. Miller, Jane Juusola, Boris Keren, Rebecca Willaert, Alexandra Afenjar, Isabelle Sabatier, Susan A. Berry, Benjamin Cogné, Susan M. Hiatt, Jackie Boyle, Natasha Shur, Erin Torti, Rachel Rabin, Gaetan Lesca, Thomas Courtin, Mathilde Nizon, Luis F. Escobar, G. Shashidhar Pai, Sabra Ledare Finley, Marisa V. Andrews, Margaret G. Au, Kevin M. Bowling, Zehua Zhu, Sara S. Cathey, Steven A. Skinner, Perrine Charles, Ganka Douglas, Kristin G. Monaghan, Ilse J. Anderson, Stéphanie Valence, Katelyn Payne, Kathleen A. Hibbs, John Pappas, Stacy Hewson, Benjamin D. Solomon, Celia Atkinson, Dorothy K. Grange, Elizabeth E. Palmer, Julien Buratti, Louisa Kalsner
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. Methods: Patients we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aecdcfa4f1d745f18ff01f210d330278
https://pubmed.ncbi.nlm.nih.gov/30739909
https://pubmed.ncbi.nlm.nih.gov/30739909