Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Bruno Reversade"'
Autor:
Vasileios Kargas, Mélanie Parisot, Norberto Escudero-Urquijo, Alexis Bertrand, Christine Bellanné-Chantelot, Jean Donadieu, Mohammed Zarhrate, Patrick Nitschke, Cécile Masson, Laëtitia Kermasson, Beatriz Goyenechea, Sophie Kaltenbach, Alan J. Warren, David Traynor, Stefano Fumagalli, Li Jin, Blandine Beaupain, Bruno Reversade, Ahmed Z. Boukerrou, Peter J. Bond, M. Rossmann, Olivier Alibeu, Jean-Alain Martignoles, Christine Bole-Feysot, Jonathan Moreil, Shengjiang Tan, François Delhommeau, Patrick Revy, Kong Boo Phua, Alexandre Faille, Aurore Pouliet, Christine Hilcenko, Frédéric Tores, Isabelle Radford-Weiss, Ai Ling Koh, Isabelle Callebaut, Jean-Pierre de Villartay
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature communications, 12(1):5044. Nature Publishing Group
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature communications, 12(1):5044. Nature Publishing Group
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations in the EIF6 gene are a frequent mechanism of SGR in Shwachman-Diamond syndrome (SDS), a le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64a0a029184f8fcc8469d2a5ac081086
https://hal.archives-ouvertes.fr/hal-03366072
https://hal.archives-ouvertes.fr/hal-03366072
Autor:
Ali Al Asmari, Emmanuelle Szenker-Ravi, Carine Bonnard, Bruno Reversade, Laura Schultz-Rogers, I. Kraegeloh-Mann, Maha Abdulrahim, Hesham Aldhalaan, Byrappa Venkatesh, Célia Bosso-Lefèvre, Aida Telegrafi, Hiyam M. Marzouqa, Gunaseelan Narayanan, Sha Tang, Sonal Mahida, Melanie A. Simpson, Fowzan S. Alkuraya, Michelle Eio, Eissa Faqeih, Renske Oegema, Sarah Weckhuysen, George Grady, Joseph J. Barycki, Mohammed Al-Owain, Lamyaa A. Jad, David A. Koolen, Marjon van Slegtenhorst, Tyler Mark Pierson, Marisa V. Andrews, Rebecca Schüle, Reinhard Keimer, Amber Begtrup, Sateesh Maddirevula, Michael Muriello, Sakkubai Naidu, Damien Haye, Adel A H Mahmoud, Brian Ciruna, Abdullah Tamim, Thong Teck Tan, Rolph Pfundt, Peter Bauer, Jiin Ying Lim, Ali Awaji, Marco Tartaglia, Meral Gunay-Aygun, Eric W. Klee, Marcia C. Willing, Monica Yau, Angelika Riess, Diego Martinelli, Sabina Barresi, Sumanty Tohari, Werner Deigendesch, Dirk Lefeber, Saumya Shekhar Jamuar, Ludger Schöls, Ralitza H. Gavrilova, Alvin Yu Jin Ng, Hannah Stamberger, Suleyman Gulsuner, Adam Claridge-Chang, Élise Lebigot, Moeenaldeen Al-Sayed, Ee Shien Tan, Kagistia Hana Utami, Sarah B. Pierce, Helene Verhelst, Hankun Li, James C. Stewart, Ingo Helbig, Tal Gilboa, Mahmoud A. Pouladi, Hagar Mor-Shaked, Boris Keren, Ajay S. Mathuru, Holger Hengel, Michèl A.A.P. Willemsen, Nader Handal, Tahsin Stefan Barakat, Sulwan M. Algain, Terrence Thomas, Lance H. Rodan, Mais Hashem, Wendy G. Mitchell
Publikováno v:
Nature communications, 11(1):595. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
Nature communications
Nature Communications
NATURE COMMUNICATIONS
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
Nature communications
Nature Communications
NATURE COMMUNICATIONS
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c2c7e1b70693539f410e6b9be36256
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-udpglucose-6dehydrogenase-cause-recessive-developmental-epileptic-encephalopathy(de2b99fa-dd10-4646-ac5b-a67868b9e177).html
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-udpglucose-6dehydrogenase-cause-recessive-developmental-epileptic-encephalopathy(de2b99fa-dd10-4646-ac5b-a67868b9e177).html
Autor:
Scott B, Drutman, Filomeen, Haerynck, Franklin L, Zhong, David, Hum, Nicholas J, Hernandez, Serkan, Belkaya, Franck, Rapaport, Sarah Jill, de Jong, David, Creytens, Simon J, Tavernier, Katrien, Bonte, Sofie, De Schepper, Jutte, van der Werff Ten Bosch, Lazaro, Lorenzo-Diaz, Andy, Wullaert, Xavier, Bossuyt, Gérard, Orth, Vincent R, Bonagura, Vivien, Béziat, Laurent, Abel, Emmanuelle, Jouanguy, Bruno, Reversade, Jean-Laurent, Casanova
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 116(38)
Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in
Autor:
Sudipto Roy, Noémi van Hul, Janine Altmüller, Hyungwon Choi, Nur'Ain Binte Ali, Xavier Bisteau, Shuhui Lim, Christian Windpassinger, Stéphane Blouin, Verena Rupp, Carine Bonnard, Franz Grill, Byrappa Venkatesh, Bruno Reversade, Rudolf Ganger, Vincenzo Coppola, S. Zakiah A. Talib, Klaus Klaushofer, Majid Alfadhel, Gökhan Yigit, Farid Ben Chehida, Paul Roschger, Ali Al Kaissi, Matias J. Caldez, Umut Altunoglu, Bernd Wollnik, Hülya Kayserili, Lionel Van Maldergem, Alvin Yu Jin Ng, Sameh A. Youssef, Lino Tessarollo, Katharina M. Roetzer, Hao Lu, Philipp Kaldis, Juliette Piard, Alain de Bruin, Sumanty Tohari
Publikováno v:
American Journal of Human Genetics
American journal of human genetics, 101(3), 391-403. Cell Press
American Journal of Human Genetics, 101(3), 391. Cell Press
American journal of human genetics, 101(3), 391-403. Cell Press
American Journal of Human Genetics, 101(3), 391. Cell Press
In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, an
Autor:
Aisha Khasawneh, Asma AL-Mustafa, Mohammad Shboul, Bruno Reversade, Amira Masri, Nathalie Escande-Beillard, Hanan Hamamy, Faris G. Bakri, Rama Jadallah
Publikováno v:
Clinical neurology and neurosurgery. 189
Objectives To present the clinical picture, the associated complications and the genetic findings of Jordanian patients diagnosed with Congenital insensitivity to pain with anhidrosis (CIPA). Patients and methods This is a retrospective study includi
Autor:
Hiroshi Hamada, Bruno Reversade, Artina Metoska, Fui Mee Ng, Jeffrey Hill, Patrick Cozzone, Nithya Baburajendran, Hülya Kayserili, Oz Pomp, Nathalie Escande-Beillard, Joyner Wong, Abigail Loh, Kohei Kanata, Sahar N. Saleem, Joanes Grandjean, Yui Hashimoto, E. Beillard, Umut Altunoglu, Hidetaka Shiratori, Maha S. Zaki
Publikováno v:
Neuron, 107, 82-94 e6
Neuron, 107(1), 82-94.e6. Cell Press
Neuron, 107, 1, pp. 82-94 e6
Neuron, 107(1), 82-94.e6. Cell Press
Neuron, 107, 1, pp. 82-94 e6
Patients lacking PYCR2, a mitochondrial enzyme that synthesizes proline, display postnatal degenerative microcephaly with hypomyelination. Here we report the crystal structure of the PYCR2 apo-enzyme and show that a novel germline p.Gly249Val mutatio
Autor:
Nathalie Escande-Beillard, Fariba Afroozan, Abigail Loh, Eva Morava, Yu Xuan Tan, Ariana Kariminejad, Bita Bozorgmehr, Bruno Reversade, Faezeh Mojahedi, Fransiska Malfait, Hamid Reza Khorram Khorshid, Aria Setoodeh, Thatjana Gardeitchik, Alireza Ghanadan, Susan Akbaroghli
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 3, p 635 (2017)
International Journal of Molecular Sciences
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
International Journal of Molecular Sciences, 18, 635-635
International Journal of Molecular Sciences, 18, 3, pp. 635-635
International Journal of Molecular Sciences
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
International Journal of Molecular Sciences, 18, 635-635
International Journal of Molecular Sciences, 18, 3, pp. 635-635
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c2f88a192bcd4c5e0b08c63dbdddd4d
https://doi.org/10.3390/ijms18030635
https://doi.org/10.3390/ijms18030635
Autor:
Duangrurdee Wattanasirichaigoon, Frédérique Magdinier, Axel M. Hillmer, Mung Kei Kong, Sabine Sigaudy, Myriam Oufadem, Hicham Filali, Hülya Kayserili, Christopher T. Gordon, Denise Williams, Peter Nürnberg, Carine Bonnard, Stanislas Lyonnet, Camille Dion, Siham Chafai Elalaoui, Jeanne Amiel, Audrey S.M. Teo, Nobuhiko Okamoto, Bruno Reversade, Asif Javed, Dieter Meschede, Alex Magee, Abdelaziz Sefiani, Rachel E A Irving, Alexandra D. Gurzau, James M. Murphy, Nicola K. Ragge, Bernd Wollnik, Gökhan Tunçbilek, Koh-ichiro Yoshiura, Chalermpong Chatdokmaiprai, Tamara Beck, Hallvard Reigstad, Christine Bole-Feysot, Kelan Chen, Nicolas Lévy, Michael L. Cunningham, Nadine Rosin, Ruth McGowan, Holger Thiele, Janine Altmüller, Vinod Varghese, Nawfal Fejjal, Patrick Nitschké, Ilham Ratbi, Marnie E. Blewitt, Gökhan Yigit, Wolfgang Mühlbauer, Meriem Fikri, Shifeng Xue, S Faisal Ahmed
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. 〈10.1038/ng.3765〉
Nature genetics, 49(2), 249-255. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. 〈10.1038/ng.3765〉
Nature genetics, 49(2), 249-255. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
International audience; Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5d4299acf7797337cbb50e49b05342
https://hal.archives-ouvertes.fr/hal-01617529/document
https://hal.archives-ouvertes.fr/hal-01617529/document
Autor:
Loic Quevarec, Florent Marguet, Bruno Reversade, Martine Bucourt, Ivo Gut, Mohammad Shboul, Jérome Maluenda, Alvin Yu Jin Ng, Shifeng Xue, Jacinda B. Sampson, Luc Rigonnot, Annie Laquerrière, Sandra Whalen, Carolina Tesi Rocha, Thong Teck Tan, Sumanty Tohari, Fawaz Alkazaleh, Carine Bonnard, Byrappa Venkatesh, Kristin G. Monaghan, Marta Gut, Marie Gonzales, Carly E. Siskind, Mung Kei Kong, Judith Melki, Megan T. Cho
Publikováno v:
American journal of human genetics, 100(4), 659-665. Cell Press
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d5543924ca68a6d2eb76cc40e20133e
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-lgi4-a-secreted-ligand-involved-in-schwann-cell-myelination-are-responsible-for-arthrogryposis-multiplex-congenita(52b77dd1-ac87-45a5-ab7e-9fc112456ea4).html
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-lgi4-a-secreted-ligand-involved-in-schwann-cell-myelination-are-responsible-for-arthrogryposis-multiplex-congenita(52b77dd1-ac87-45a5-ab7e-9fc112456ea4).html
Autor:
Carine Bonnard, Shahriar Nafissi, Charles B. L. M. Majoie, Paul P. Van Veldhoven, Bruno Reversade, Yeng Ting Ng, Raoul C.M. Hennekam, Ariana Kariminejad, Ali Reza Tavasoli, Yalda Nilipoor
Publikováno v:
American journal of medical genetics. Part A, 167AA(11), 2508-2515. Wiley-Liss Inc.
We report on a sister and two brothers born to healthy Iranian parents with mild intellectual disability, progressive muscle weakness, and characteristic facies. including highly arched eyebrows, down-slanting palpebral fissures, prominent nasal brid