المؤلفون: Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-3 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/8a927eb5859b43cf96c9c3e30c509b07

المؤلفون: Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)

مصطلحات موضوعية: Rare variants, COVID-19, Immunity, Type I interferon, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/86e4db2aa39842caa8f2f5c9e6d95290

المؤلفون: Agnès Collet, Julien Tarabeux, Elodie Girard, Catherine Dubois DEnghien, Lisa Golmard, Vivien Deshaies, Alban Lermine, Anthony Laugé, Virginie Moncoutier, Cédrick Lefol, Florence Copigny, Catherine Dehainault, Henrique Tenreiro, Christophe Guy, Khadija Abidallah, Catherine Barbaroux, Etienne Rouleau, Nicolas Servant, Antoine De Pauw, Dominique Stoppa-Lyonnet, Claude Houdayer

المصدر: AIMS Genetics, Vol 2, Iss 4, Pp 263-280 (2015)

مصطلحات موضوعية: HaloPlex, cancer, predisposition, genetic diagnosis, next generation sequencing, gene panel, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.aimspress.com/Genetics/article/558/fulltext.html; https://doaj.org/toc/2377-1143

URL الوصول: https://doaj.org/article/591a498b3eab416195ca9d1d0e38505d

المؤلفون: Valentina Boeva, Stéphanie Jouannet, Romain Daveau, Valérie Combaret, Cécile Pierre-Eugène, Alex Cazes, Caroline Louis-Brennetot, Gudrun Schleiermacher, Sandrine Ferrand, Gaëlle Pierron, Alban Lermine, Thomas Rio Frio, Virginie Raynal, Gilles Vassal, Emmanuel Barillot, Olivier Delattre, Isabelle Janoueix-Lerosey

المصدر: PLoS ONE, Vol 8, Iss 8, p e72182 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3753337?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/de594cc74d654ac9a384b971b7f9ca38

المؤلفون: Laurence Pacot, Valerie Pelletier, Albain Chansavang, Audrey Briand-Suleau, Cyril Burin des Roziers, Audrey Coustier, Theodora Maillard, Nicolas Vaucouleur, Lucie Orhant, Cécile Barbance, Alban Lermine, Nadim Hamzaoui, Djihad Hadjadj, Ingrid Laurendeau, Laïla El Khattabi, Juliette Nectoux, Michel Vidaud, Béatrice Parfait, Hélène Dollfus, Eric Pasmant, Dominique Vidaud

المصدر: Human Genetics. 142:1-9

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cc0cf96dd8d3f9c0d79038ea9fde42dd
https://doi.org/10.1007/s00439-022-02476-3

المؤلفون: Daniela, Matuozzo, Estelle, Talouarn, Astrid, Marchal, Jeremy, Manry, Yoann, Seeleuthner, Yu, Zhang, Alexandre, Bolze, Matthieu, Chaldebas, Baptiste, Milisavljevic, Peng, Zhang, Adrian, Gervais, Paul, Bastard, Takaki, Asano, Lucy, Bizien, Federica, Barzaghi, Hassan, Abolhassani, Ahmad Abou, Tayoun, Alessandro, Aiuti, Ilad Alavi, Darazam, Luis M, Allende, Rebeca, Alonso-Arias, Andrés Augusto, Arias, Gokhan, Aytekin, Peter, Bergman, Simone, Bondesan, Yenan T, Bryceson, Ingrid G, Bustos, Oscar, Cabrera-Marante, Sheila, Carcel, Paola, Carrera, Giorgio, Casari, Khalil, Chaïbi, Roger, Colobran, Antonio, Condino-Neto, Laura E, Covill, Loubna, El Zein, Carlos, Flores, Peter K, Gregersen, Marta, Gut, Filomeen, Haerynck, Rabih, Halwani, Selda, Hancerli, Lennart, Hammarström, Nevin, Hatipoğlu, Adem, Karbuz, Sevgi, Keles, Christèle, Kyheng, Rafael, Leon-Lopez, Jose Luis, Franco, Davood, Mansouri, Javier, Martinez-Picado, Ozge Metin, Akcan, Isabelle, Migeotte, Pierre-Emmanuel, Morange, Guillaume, Morelle, Andrea, Martin-Nalda, Giuseppe, Novelli, Antonio, Novelli, Tayfun, Ozcelik, Figen, Palabiyik, Qiang, Pan-Hammarström, Rebeca, Pérez de Diego, Laura, Planas-Serra, Daniel E, Pleguezuelo, Carolina, Prando, Aurora, Pujol, Luis Felipe, Reyes, Jacques G, Rivière, Carlos, Rodriguez-Gallego, Julian, Rojas, Patrizia, Rovere-Querini, Agatha, Schlüter, Mohammad, Shahrooei, Ali, Sobh, Pere, Soler-Palacin, Yacine, Tandjaoui-Lambiotte, Imran, Tipu, Cristina, Tresoldi, Jesus, Troya, Diederik, van de Beek, Mayana, Zatz, Pawel, Zawadzki, Saleh Zaid, Al-Muhsen, Hagit, Baris-Feldman, Manish J, Butte, Stefan N, Constantinescu, Megan A, Cooper, Clifton L, Dalgard, Jacques, Fellay, James R, Heath, Yu-Lung, Lau, Richard P, Lifton, Tom, Maniatis, Trine H, Mogensen, Horst, von Bernuth, Alban, Lermine, Michel, Vidaud, Anne, Boland, Jean-François, Deleuze, Robert, Nussbaum, Amanda, Kahn-Kirby, France, Mentre, Sarah, Tubiana, Guy, Gorochov, Florence, Tubach, Pierre, Hausfater, Isabelle, Meyts, Shen-Ying, Zhang, Anne, Puel, Luigi D, Notarangelo, Stephanie, Boisson-Dupuis, Helen C, Su, Bertrand, Boisson, Emmanuelle, Jouanguy, Jean-Laurent, Casanova, Qian, Zhang, Laurent, Abel, Aurélie, Cobat

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
medRxiv

مصطلحات موضوعية: IMUNOLOGIA, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c2b2b888dfa2d32ea41a056674b1215
https://doi.org/10.1101/2022.10.22.22281221

المؤلفون: Mélina Blanco, Laila El Khattabi, Clara Gobé, Marion Crespo, Manon Coulée, Alberto de la Iglesia, Côme Ialy‐Radio, Clementine Lapoujade, Maëlle Givelet, Marion Delessard, Ivan Seller‐Corona, Kosuke Yamaguchi, Nadège Vernet, Fred Van Leeuwen, Alban Lermine, Yuki Okada, Romain Daveau, Rafael Oliva, Pierre Fouchet, Ahmed Ziyyat, Delphine Pflieger, Julie Cocquet

المساهمون: Medical Biology, AII - Cancer immunology, CCA - Cancer biology and immunology

المصدر: EMBO reports. Wiley-Blackwell

مصطلحات موضوعية: flagellum development, histone-to-protamine transition, Genetics, H3K79 methylation, gene regulation, Molecular Biology, Biochemistry, spermatogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19bdf24b3f9ddcd005b29ed4b2feb9c
https://doi.org/10.1101/2022.10.17.512530

المؤلفون: Aurélia Gruber, Céleste Lebbé, Julie Delyon, Fanélie Jouenne, Baptiste Louveau, Kevin Serror, Aminata Ndiaye, Aurélie Sadoux, Nicolas Dumaz, Pauline Tétu, Maxime Battistella, Laetitia Da Meda, O. Marco, Barouyr Baroudjian, Samia Mourah, Alban Lermine, Eddie Lopes

المساهمون: Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Cité (UPCité), Dumaz, Nicolas, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Paris (UP)

المصدر: Targeted Oncology
Targeted Oncology, Springer Verlag (Germany), 2020, 15 (6), pp.759-771. ⟨10.1007/s11523-020-00764-4⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, Oncology, Cancer Research, medicine.medical_specialty, Genotype, [SDV.BBM.BS] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], [SDV.CAN]Life Sciences [q-bio]/Cancer, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, CDKN2A, Internal medicine, medicine, Humans, Pharmacology (medical), In patient, Copy-number variation, Melanoma, Gene, Genotyping, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], business.industry, High-Throughput Nucleotide Sequencing, [SDV.BBM.MN]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.disease, 3. Good health, 030104 developmental biology, [SDV.BBM.MN] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], 030220 oncology & carcinogenesis, Female, business, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d97951d8babf3e68ebe276268805bffc
https://doi.org/10.1007/s11523-020-00764-4

المؤلفون: Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P. Bhatia, Tatjana Bierhals, Christian M. Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco‐Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B. Haack, Trine B. Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J. Müller, Anna J. Oostra, Beth A. Pletcher, David Ros‐Pardo, Shanika Samarasekera, Marco Tartaglia, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha S. Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gomez‐Puertas, Rikke S. Møller, Zeynep Tümer

المصدر: Clinical genetics
CLINICAL GENETICS
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165

مصطلحات موضوعية: Movement Disorders, INTELLECTUAL DISABILITY, MUTATIONS, DELETION, disorder, HAPLOINSUFFICIENCY, GENE, neurodevelopmental disorder, language impairement, ZNF142, Phenotype, Neurodevelopmental Disorders, Seizures, Intellectual Disability, ONSET, Genetics, Medicine and Health Sciences, Humans, epilepsy, movement disorder, Human medicine, movement, Genetics (clinical), Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b95d713d1109bb0b4e3b02c70735ab1
https://hdl.handle.net/10067/1891320151162165141

المؤلفون: Anthony Laugé, Vivien Deshaies, Catherine Dubois d'Enghien, Lisa Golmard, Agnès Collet, Catherine Barbaroux, Claude Houdayer, Nicolas Servant, Virginie Moncoutier, Etienne Rouleau, Alban Lermine, Cédrick Lefol, Catherine Dehainault, Florence Copigny, Julien Tarabeux, Dominique Stoppa-Lyonnet, Henrique Tenreiro, Antoine De Pauw, Khadija Abidallah, Christophe Guy, Elodie Girard

المصدر: AIMS Genetics, Vol 2, Iss 4, Pp 263-280 (2015)

مصطلحات موضوعية: lcsh:QH426-470, Pseudogene, Biology, DNA sequencing, genetic diagnosis, 03 medical and health sciences, 0302 clinical medicine, gene panel, Gene panel, medicine, cancer, Indel, 030304 developmental biology, next generation sequencing, Genetics, 0303 health sciences, Point mutation, Cancer, General Medicine, medicine.disease, lcsh:Genetics, predisposition, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), HaloPlex, Genetic diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a12076f3d586dee6dfc953635d70a8d
https://doi.org/10.3934/genet.2015.4.263