IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

Authors: Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A. Tangeman, Libe Gradstein, Yuval Yogev, Noam Hadar, Ofek Freund, Max Drabkin, Daniel Halperin, Inbar Irron, Erika Grajales-Esquivel, Katia Del Rio-Tsonis, Ramon Y. Birnbaum, Gidon Akler, Ohad S. Birk

Source: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/a8c8b36507974d6a83c24a422501bd60

Awake prone positioning for patients with COVID-19-induced acute hypoxemic respiratory failure

Authors: Yonatan Perez, Jian Luo, Miguel Ibarra-Estrada, Jie Li, Stephan Ehrmann

Source: Journal of Intensive Medicine, Vol 2, Iss 4, Pp 233-240 (2022)

Subject Terms: Respiratory distress syndrome, Intensive care units, Prone position, Intubation, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667100X22000731; https://doaj.org/toc/2667-100X

Access URL: https://doaj.org/article/d5abf09cb7ac4a2f81649d9863ab173a

Awake prone positioning in acute hypoxaemic respiratory failure

Authors: Bairbre A. McNicholas, Miguel Ibarra-Estrada, Yonatan Perez, Jie Li, Ivan Pavlov, Aileen Kharat, David L. Vines, Oriol Roca, David Cosgrave, Claude Guerin, Stephan Ehrmann, John G. Laffey

Source: European Respiratory Review, Vol 32, Iss 168 (2023)

Subject Terms: Diseases of the respiratory system, RC705-779

File Description: electronic resource

Relation: http://err.ersjournals.com/content/32/168/220245.full; https://doaj.org/toc/0905-9180; https://doaj.org/toc/1600-0617

Access URL: https://doaj.org/article/326b1e827e634592a3891411e9ad0a36

Factors for success of awake prone positioning in patients with COVID-19-induced acute hypoxemic respiratory failure: analysis of a randomized controlled trial

Authors: Miguel Ibarra-Estrada, Jie Li, Ivan Pavlov, Yonatan Perez, Oriol Roca, Elsa Tavernier, Bairbre McNicholas, David Vines, Miguel Marín-Rosales, Alexandra Vargas-Obieta, Roxana García-Salcido, Sara A. Aguirre-Díaz, José A. López-Pulgarín, Quetzalcóatl Chávez-Peña, Julio C. Mijangos-Méndez, Guadalupe Aguirre-Avalos, Stephan Ehrmann, John G. Laffey

Source: Critical Care, Vol 26, Iss 1, Pp 1-13 (2022)

Subject Terms: Awake prone positioning, COVID-19, Acute hypoxemic respiratory failure, Intubation, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

File Description: electronic resource

Relation: https://doaj.org/toc/1364-8535

Access URL: https://doaj.org/article/1885320c09064c5480b12bd27005f104

Rapid rEcognition of COrticosteRoiD resistant or sensitive Sepsis (RECORDS): study protocol for a multicentre, placebo-controlled, biomarker-guided, adaptive Bayesian design basket trial

Authors: Shidasp Siami, Charlène Le Moal, Thomas DAIX, Sylvie Chevret, Yonatan Perez, Constance Vuillard, Damien Roux, Jonathan Messika, Stephan Ehrmann, Jean-Pierre Quenot, Dalila Benzekri, Gwenhaël Colin, Thierry Boulain, Julie Mankikian, Laura Federici, Jean Reignier, Jean-Paul Mira, Marie-Ange Azais, Djillali Annane, Jean-Claude Lacherade, Grégoire Muller, Christine Lebert, Nicholas Heming, Arthur Bailly, Emmanuelle Mercier, Jean-Baptiste Lascarrou, Julio Badie, Louis-Marie Dumont, Gaetan Plantefeve, Francis Schneider, Patrice Tirot, Isabelle Vinatier, Mickael Landais, Michel Djibré, Bruno Francois, Alexandra Monnier, Francois Barbier, Ferhat Meziani, Hamid Merdji, Pascal Andreu, Julie Helms, Laetitia Bodet-Contentin, Nicolas Pichon, Noémie Zucman, Mehran Monchi, Xavier Monnet, Marie Labruyère, Denis Garot, Hassène Rahmani, Jérôme Fleuriet, Pierre-Louis Declerq, Adrien Robine, Fabrice Uhel, Charles Cerf, Gilles Troché, Alexandrou Antigoni, Annane Djillali, Arlt Birte, Badie Julio, Benghanem Sarah, Berdaguer Ferrari Fernando, Cerf Charles, Chelly Dagdia Zaineb, Chevret Sylvie, Colin Gwenhaël, Daniel Christel, Declercq Pierre-Louis, Delbove Agathe, Devillier Philippe, Fleuriet Jérome, François Bruno, Garchon Henri-Jean, Godot Véronique, Grassin-Delyle Stanislas, Grisolia Mathieu, Guitton Christophe, Helms Julie, Heming Nicholas, Herzog Marielle, Kamel Toufik, Kedad Zoubida, Lassalle Philippe, Lhermite Guillaume, Megarbane Bruno, Mekontso Dessap Armand, Mercier Emmanuelle, Meziani Ferhat, Mira Jean-Paul, Monchi Mehran, Monnet Xavier, Muller Grégoire, Quenot Jean-Pierre, Reignier Jean, Robine Adrien, Rottman Martin, Roux Anne-Laure, Schneider Francis, Siami Shidasp, Tissieres Pierre, Troché Gilles, Uhel Fabrice, Zeitouni Karine, Plantefève Gaëtan, Walid Darwiche, Antoine Guillon, Youenn Jouan, Annick Legras, Marlene Morisseau, Emmanuelle Rouve, Charlotte Salmon-Gandonniere, Raphael Clere-Jehl, Laure Stiel, Antoine Studer, Jean-Baptiste Roudaut, Marine Jacquier, Sophie Jacquier, Armelle Mathonnet, Mai-Anh Nai, Isabelle Runge, Sophie Tollec, Marc Amouretti, Pierre Moine, Paris Meng, Rania Bounab, Muriel-Sarah Fartoukh, Alexandre Elabbadi, Konstantinos Bachoumas, Remi Bernardon, Gauthier Blonz, Luc Desmedt, Brian Emonet, Maud Fiancette, Matthieu Henry, Julien Lorber, Laurent Martin-Lefevre, Caroline Pouplet, Aihem Yehia, Sarah Benghanem, Julien Charpentier, Clara Vigneron, Anne-Laure Fedou, Claire Mancia, Emmanuelle Begot, Philippe Vignon, Antoine Galy, Celine Gonzalez, Marine Goudelin, Bruno Evrard, Arnaud Desachy, Julien Vaidie, Guillaume Gilbert, Cedric Darreau, Benoit Derrien, Marjorie Saint-Martin, Nicolas Chudeau, Jean Christophe Callahan, Dominique Vivier, Pierre-Yves Olivier, Remy Marnai, Nicolas Sedillot, Xavier Tchenio, Yves Poncelin, Remi Bruyere, Grimaldi Lamiae, Derridj Nawal

Source: BMJ Open, Vol 13, Iss 3 (2023)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://bmjopen.bmj.com/content/13/3/e066496.full; https://doaj.org/toc/2044-6055

Access URL: https://doaj.org/article/9a4f431ed1d946febcd18ff6a5fea3a7

Awake prone positioning of hypoxaemic patients with COVID-19: protocol for a randomised controlled open-label superiority meta-trial

Authors: Jie Li, Yonatan Perez, Jean-Pierre Frat, Stephan Ehrmann, Elsa Tavernier, Bairbre McNicholas, Ivan Pavlov, Oriol Roca, John Laffey, Sara Mirza, David Cosgrave, David Vines

Source: BMJ Open, Vol 10, Iss 11 (2020)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://bmjopen.bmj.com/content/10/11/e041520.full; https://doaj.org/toc/2044-6055

Access URL: https://doaj.org/article/88c8c7e91864429f9dd39eef2f4a5cb8

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

Authors: Rotem Kadir, Tamar Harel, Barak Markus, Yonatan Perez, Anna Bakhrat, Idan Cohen, Michael Volodarsky, Miora Feintsein-Linial, Elana Chervinski, Joel Zlotogora, Sara Sivan, Ramon Y Birnbaum, Uri Abdu, Stavit Shalev, Ohad S Birk

Source: PLoS Genetics, Vol 12, Iss 3, p e1005919 (2016)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4805177?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/01db379f64c84cf18be33060206d37ff

Hydrocortisone plus fludrocortisone for community acquired pneumonia-related septic shock: a subgroup analysis of the APROCCHSS phase 3 randomised trial

Authors: Djillali, ANNANE, Christian, BRUN-BUISSON, Benoit, MISSET, Jean, CHASTRE, François, BRIVET, Julien, BOHE, Carole, SCHWEBEL, Shidasp, SIAMI, Michel, SLAMA, Olivier, LEROY, Gilles, CAPELLIER, Michel, WOLFF, Mohamed, ALI BEN ALI, François, ANTONINI, Jean-François, LORIFERNE, Franck, PETITPAS, Claire, CHARPENTIER, Jean-Michel, CONSTANTIN, Gilles, D'HONNEUR, Bertrand, SOUWEINE, Xavier, FORCEVILLE, Bruno, MEGARBANE, Francois, BAUDIN, Gwenhaël, COLIN, Karim, ASEHNOUNE, Jean-Pierre, QUENOT, Bruno, FRANCOIS, Thierry, BOULAIN, Emmanuelle, MERCIER, Jean, REIGNIER, Roland, AMATHIEU, Fabrice, COOK, Alain, CARIOU, Loic, CHIMOT, Fouad, Fadel, Andrea, Polito, Bernard, Clair, Virginie, Maxime, David, Luis, Tarek, Sharshar, David, Orlikowski, Keyvan, RAZAZI, Nicolas, DE PROST, Guillaume, CARTEAUX, Maité, GARROUSTE ORGEAS, François, Philippart, Alain, Combes, Ania, Nieszkowska, Frederic, Jacobs, Dominique, Prat, Patrick, Lafforgue, Claire, ARA SOMOHANO, Clémence, MINET, Maxime, LUGOSI, Julien, Maizel, Jean Christophe, Navellou, Bruno, Mourvillier, Lila, Bouadma, Jean François, Timsit, Claude Denis, Martin, Julien, Textoris, Sandrine, Wiramus, Clément, BRUN, Benoît, RAGONNET, Ali, Ait-Hssain, Samia, Touati, Jean, Kuba, Vincent, Willems, Pierre, Lahillaire, Mohammed, Lassi, Marion, ANTONA, Alia, MEGHENEM, Marine, DEMESMAY, Eric, Boulet, Olivier, LOUTREL, Romain, DUMONT, Antoine, ROQUILLY, Pierre-Joachim, MAHE, Dominique, DEMEURE dit LATTE, Philippe, CHAMPIN, Jean François, ARNOULD, Raphaël, CINOTTI, Ronan, Le FLOCH, Marc, Clavel, Philippe, Vignon, Nicolas, Pichon, Emmanuelle, BEGOT, Anne-Laure, FEDOU, Catherine, CHAPELLAS, Antoine, GALY, Dalila, Benzekri Lefevre, Armelle, Mathonnet, Anne, Bretagnol, Isabelle, Runge, François, BARBIER, Grégoire, MULLER, Denis, GAROT, Pierre François, DEQUIN, Dominique, PERROTIN, Annick, LEGRAS, Julie, MANKIKIAN, Patrice, TALEC, Stephan, EHRMANN, Aurélie, JORET, Claire, LHOMMET, Emmanuelle, ROUVE, Laetitia, BODET-CONTENTIN, Youenn, JOUAN, Charlotte, SALMONGANDONNIERE, Laurent, MARTIN-LEFEVRE, Matthieu, HENRY-LAGARRIGUE, Aihem, YEHIA, Jean-Baptiste, LASCARROU, Christine, LEBERT, Jean-Claude, LACHERADE, Eric, LEVESQUE, Yen-Lan, NGUYEN, Fabrice, DAVIAUD, Adrien, BOUGLE, Jean Paul, MIRA, Jean Daniel, CHICHE, Frederic, PENE, Tristan, MORICHAU-BEAUCHANT, Guillaume, GERI, Pierre Henri, DESSALLES, Yannick, MONSEAU, Mélanie, SAINT-LEGER, Sandrine, BEDON-CARTE, Laetitia, Bodet-Contentin, Walid, Darwiche, Stephan, Ehrmann, Denis, Garot, Antoine, Guillon, Youenn, Jouan, Annick, Legras, Julie, Mankikian, Emmanuelle, Mercier, Marlene, Morisseau, Yonatan, Perez, Emmanuelle, Rouve, Charlotte, Salmon-Gandonniere, Julie, Helms, Hassene, Rahmani, Alexandra, Monnier, Hamid, Merdji, Raphael, Clere-Jehl, Laure, Stiel, Antoine, Studer, Pascal, Andreu, Jean-Baptiste, Roudaut, Marie, Labruyere, Marine, Jacquier, Francois, Barbier, Dalila, Benzekri, Thierry, Boulain, Sophie, Jacquier, Gregoire, Muller, Mai-Anh, Nai, Sophie, Tollec, Damien, Roux, Jonathan, Messika, Constance, Vuillard, Louis-Marie, Dumont, Laura, Federici, Noemie, Zucman, Marc, Amouretti, Djillali, Annane, Pierre, Moine, Paris, Meng, Rania, Bounab, Muriel-Sarah, Fartoukh, Michel, Djibre, Alexandre, Elabbadi, Marie-Ange, Azais, Konstantinos, Bachoumas, Arthur, Bailly, Remi, Bernardon, Gauthier, Blonz, Luc, Desmedt, Brian, Emonet, Maud, Fiancette, Matthieu, Henry, Jean-Claude, Lacherade, Jean-Baptiste, Lascarrou, Christine, Lebert, Julien, Lorber, Laurent Martin-, Lefevre, Caroline, Pouplet, Isabelle, Vinatier, Aihem, Yehia, Sarah, Benghanem, Julien, Charpentier, Clara, Vigneron, Anne-Laure, Fedou, Claire, Mancia, Emmanuelle, Begot, Thomas, Daix, Antoine, Galy, Celine, Gonzalez, Marine, Goudelin, Bruno, Evrard, Arnaud, Desachy, Julien, Vaidie, Guillaume, Gilbert, Cedric, Darreau, Benoit, Derrien, Marjorie, Saint-Martin, Patrice, Tirot, Mickael, Landais, Nicolas, Chudeau, Jean Christophe, Callahan, Dominique, Vivier, Charlene, Le Moal, Pierre-Yves, Olivier, Remy, Marnai, Francis, Schneider, Nicolas, Sedillot, Xavier, Tchenio, Adrien, Robine, Yves, Poncelin, Remi, Bruyere, Heming, Nicholas, Renault, Alain, Kuperminc, Emmanuelle, Brun-Buisson, Christian, Megarbane, Bruno, Quenot, Jean-Pierre, Siami, Shidasp, Cariou, Alain, Forceville, Xavier, Schwebel, Carole, Leone, Marc, Timsit, Jean-Francois, Misset, Benoît, Benali, Mohamed Ali, Colin, Gwenhael, Souweine, Bertrand, Asehnoune, Karim, Mercier, Emmanuelle, Chimot, Loïc, Charpentier, Claire, François, Bruno, Boulain, Thierry, Petitpas, Frank, Constantin, Jean Michel, Dhonneur, Gilles, Baudin, François, Combes, Alain, Bohé, Julien, Loriferne, Jean-François, Cook, Fabrice, Slama, Michel, Leroy, Olivier, Capellier, Gilles, Dargent, Auguste, Hissem, Tarik, Bounab, Rania, Maxime, Virginie, Moine, Pierre, Bellissant, Eric, Annane, Djillali ^*

Source: In The Lancet Respiratory Medicine May 2024 12(5):366-374

Hydrocortisone plus fludrocortisone for community acquired pneumonia-related septic shock: a subgroup analysis of the APROCCHSS phase 3 randomised trial

Authors: Heming, Nicholas, Renault, Alain, Kuperminc, Emmanuelle, Brun-Buisson, Christian, Megarbane, Bruno, Quenot, Jean-Pierre, Siami, Shidasp, Cariou, Alain, Forceville, Xavier, Schwebel, Carole, Leone, Marc, Timsit, Jean-Francois, Misset, Benoît, Benali, Mohamed Ali, Colin, Gwenhael, Souweine, Bertrand, Asehnoune, Karim, Mercier, Emmanuelle, Chimot, Loïc, Charpentier, Claire, François, Bruno, Boulain, Thierry, Petitpas, Frank, Constantin, Jean Michel, Dhonneur, Gilles, Baudin, François, Combes, Alain, Bohé, Julien, Loriferne, Jean-François, Cook, Fabrice, Slama, Michel, Leroy, Olivier, Capellier, Gilles, Dargent, Auguste, Hissem, Tarik, Bounab, Rania, Maxime, Virginie, Moine, Pierre, Bellissant, Eric, Annane, Djillali, Djillali, ANNANE, Christian, BRUN-BUISSON, Benoit, MISSET, Jean, CHASTRE, François, BRIVET, Julien, BOHE, Carole, SCHWEBEL, Shidasp, SIAMI, Michel, SLAMA, Olivier, LEROY, Gilles, CAPELLIER, Michel, WOLFF, Mohamed, ALI BEN ALI, François, ANTONINI, Jean-François, LORIFERNE, Franck, PETITPAS, Claire, CHARPENTIER, Jean-Michel, CONSTANTIN, Gilles, D'HONNEUR, Bertrand, SOUWEINE, Xavier, FORCEVILLE, Bruno, MEGARBANE, Francois, BAUDIN, Gwenhaël, COLIN, Karim, ASEHNOUNE, Jean-Pierre, QUENOT, Bruno, FRANCOIS, Thierry, BOULAIN, Emmanuelle, MERCIER, Jean, REIGNIER, Roland, AMATHIEU, Fabrice, COOK, Alain, CARIOU, Loic, CHIMOT, Fouad, Fadel, Andrea, Polito, Bernard, Clair, Virginie, Maxime, David, Luis, Tarek, Sharshar, David, Orlikowski, Keyvan, RAZAZI, Nicolas, DE PROST, Guillaume, CARTEAUX, Maité, GARROUSTE ORGEAS, François, Philippart, Alain, Combes, Ania, Nieszkowska, Frederic, Jacobs, Dominique, Prat, Patrick, Lafforgue, Claire, ARA SOMOHANO, Clémence, MINET, Maxime, LUGOSI, Julien, Maizel, Jean Christophe, Navellou, Bruno, Mourvillier, Lila, Bouadma, Jean François, Timsit, Claude Denis, Martin, Julien, Textoris, Sandrine, Wiramus, Clément, BRUN, Benoît, RAGONNET, Ali, Ait-Hssain, Alain, Combes, Samia, Touati, Jean, Kuba, Vincent, Willems, Pierre, Lahillaire, Mohammed, Lassi, Marion, ANTONA, Alia, MEGHENEM, Marine, DEMESMAY, Eric, Boulet, Olivier, LOUTREL, Romain, DUMONT, Antoine, ROQUILLY, Pierre-Joachim, MAHE, Dominique, DEMEURE dit LATTE, Philippe, CHAMPIN, Jean François, ARNOULD, Raphaël, CINOTTI, Ronan, Le FLOCH, Marc, Clavel, Philippe, Vignon, Nicolas, Pichon, Emmanuelle, BEGOT, Anne-Laure, FEDOU, Catherine, CHAPELLAS, Antoine, GALY, Dalila, Benzekri Lefevre, Armelle, Mathonnet, Anne, Bretagnol, Isabelle, Runge, François, BARBIER, Grégoire, MULLER, Denis, GAROT, Pierre François, DEQUIN, Dominique, PERROTIN, Annick, LEGRAS, Julie, MANKIKIAN, Patrice, TALEC, Stephan, EHRMANN, Aurélie, JORET, Claire, LHOMMET, Aurélie, JORET, Claire, LHOMMET, Emmanuelle, ROUVE, Laetitia, BODET-CONTENTIN, Youenn, JOUAN, Charlotte, SALMONGANDONNIERE, Gwenhaël, COLIN, Laurent, MARTIN-LEFEVRE, Matthieu, HENRY-LAGARRIGUE, Aihem, YEHIA, Jean-Baptiste, LASCARROU, Christine, LEBERT, Jean-Claude, LACHERADE, Eric, LEVESQUE, Yen-Lan, NGUYEN, Fabrice, DAVIAUD, Adrien, BOUGLE, Jean Paul, MIRA, Jean Daniel, CHICHE, Frederic, PENE, Tristan, MORICHAU-BEAUCHANT, Guillaume, GERI, Pierre Henri, DESSALLES, Yannick, MONSEAU, Mélanie, SAINT-LEGER, Sandrine, BEDON-CARTE, Laetitia, Bodet-Contentin, Walid, Darwiche, Stephan, Ehrmann, Denis, Garot, Antoine, Guillon, Youenn, Jouan, Annick, Legras, Julie, Mankikian, Emmanuelle, Mercier, Marlene, Morisseau, Yonatan, Perez, Emmanuelle, Rouve, Charlotte, Salmon-Gandonniere, Julie, Helms, Hassene, Rahmani, Alexandra, Monnier, Hamid, Merdji, Raphael, Clere-Jehl, Laure, Stiel, Antoine, Studer, Pascal, Andreu, Jean-Baptiste, Roudaut, Marie, Labruyere, Marine, Jacquier, Francois, Barbier, Dalila, Benzekri, Thierry, Boulain, Sophie, Jacquier, Armelle, Mathonnet, Gregoire, Muller, Mai-Anh, Nai, Isabelle, Runge, Sophie, Tollec, Damien, Roux, Jonathan, Messika, Constance, Vuillard, Louis-Marie, Dumont, Laura, Federici, Noemie, Zucman, Marc, Amouretti, Djillali, Annane, Pierre, Moine, Paris, Meng, Rania, Bounab, Muriel-Sarah, Fartoukh, Michel, Djibre, Alexandre, Elabbadi, Marie-Ange, Azais, Konstantinos, Bachoumas, Arthur, Bailly, Remi, Bernardon, Gauthier, Blonz, Luc, Desmedt, Brian, Emonet, Maud, Fiancette, Matthieu, Henry, Jean-Claude, Lacherade, Jean-Baptiste, Lascarrou, Christine, Lebert, Julien, Lorber, Laurent Martin-, Lefevre, Caroline, Pouplet, Isabelle, Vinatier, Aihem, Yehia, Sarah, Benghanem, Julien, Charpentier, Clara, Vigneron, Nicolas, Pichon, Anne-Laure, Fedou, Claire, Mancia, Emmanuelle, Begot, Thomas, Daix, Philippe, Vignon, Antoine, Galy, Celine, Gonzalez, Marine, Goudelin, Bruno, Evrard, Arnaud, Desachy, Julien, Vaidie, Guillaume, Gilbert, Cedric, Darreau, Benoit, Derrien, Marjorie, Saint-Martin, Patrice, Tirot, Mickael, Landais, Nicolas, Chudeau, Jean Christophe, Callahan, Dominique, Vivier, Charlene, Le Moal, Pierre-Yves, Olivier, Remy, Marnai, Francis, Schneider, Nicolas, Sedillot, Xavier, Tchenio, Adrien, Robine, Yves, Poncelin, Remi, Bruyere

Source: The Lancet Respiratory Medicine; May 2024, Vol. 12 Issue: 5 p366-374, 9p

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