Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Autor: Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz, Ann Nordgren, Rasa Traberg, Massimiliano Rossi, Aurelién Trimouille, Rasika Sowmyalakshmi, Bruno Dallapiccola, Alessandra Renieri, Laurence Faivre, Bronwyn Kerr, Alain Verloes, Jill Clayton-Smith, Sofia Douzgou, on behalf of ERN ITHACA

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

Abstract Background The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management

Externí odkaz: https://doaj.org/article/d1bebb0fda4546c08ace4997751a80ac

Immunomodulatory Drugs Exert Anti-Leukemia Effects in Acute Myeloid Leukemia by Direct and Immunostimulatory Activities

Autor: Aude Le Roy, Thomas Prébet, Rémy Castellano, Armelle Goubard, Florence Riccardi, Cyril Fauriat, Samuel Granjeaud, Audrey Benyamine, Céline Castanier, Florence Orlanducci, Amira Ben Amara, Frédéric Pont, Jean-Jacques Fournié, Yves Collette, Jean-Louis Mege, Norbert Vey, Daniel Olive

Publikováno v: Frontiers in Immunology, Vol 9 (2018)

Immunomodulatory drugs (IMiDs) are anticancer drugs with immunomodulatory, anti-angiogenesis, anti-proliferative, and pro-apoptotic properties. IMiDs are currently used for the treatment of multiple myeloma, myelodysplastic syndrome, and B-cell lymph

Externí odkaz: https://doaj.org/article/8f0600d7ac934e3e92da85268dc06549

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Autor: Glen D. Thomson, Olga Calabrese, Hong Cui, Sandra Chantot Bastaraud, Frances Elmslie, Renee Carroll, Agnès Guët, Sandra Whalen, Anne Slavotinek, Thierry Billette de Villemeur, Vishal Kumar, Brian Kirmse, Patrick Yap, Elise Brischoux-Boucher, Florence Riccardi, Jenny Morton, Carroll Jennifer, Jonathan Levy, Manoelle Kossorotoff, Alessandro Mauro Spinelli, Elisabeth Forsythe, Annelies Dheedene, Anne McCabe, Cecile Cieuta Walti, Jozef Gecz, Anne Claude Tabet, Laurent Villard, Cyril Mignot, Kristen V. Truxal, Jessica N. Hartley, Annick Raas-Rothschild, Jillian R Ozmore, Marie Shaw, Jan Liebelt, Delphine Héron, Patrick Frosk, Benjamin Kamien, Jane A. Hurst, Antonella Pini

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group

International audience; The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::011291833bb314df424ba351fe2dc473
http://www.scopus.com/inward/record.url?scp=85101167280&partnerID=8YFLogxK

N°179 – NAPB and developmental and epileptic encephalopathy: Description of the electro-clinical profile associated to a novel pathogenic variant

Autor: Cécile Mignon-Ravix, Florence Riccardi, Géraldine Daquin, Pierre Cacciagli, Sylvie Lamoureux-Toth, Laurent Villard, Nathalie Villeneuve, Florence Molinari

Publikováno v: Clinical Neurophysiology. 150:e128

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5139db55a4fa5aebe9349267b4dbe7a8
https://doi.org/10.1016/j.clinph.2023.03.173

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Autor: M. Tanguy, A. Hamblin, Ehsan Ghayoor Karimiani, Javeria Raza Alvi, Gökhan Yigit, D. Kasperaviciute, Shima Imannezhad, C.R. Boustred, Brigitte Chabrol, Ehtisham Ul Haq Makhdoom, Cécile Mignon-Ravix, Vasiliki Karageorgou, Maria Iqbal, Farah Ashrafzadeh, Sheraz Jamal Khan, Michael Field, Henry Houlden, Adam Jackson, David A. Dyment, J. Pullinger, Yasra Sarwar, S.E.A. Leigh, Jamshaid Mahmood Baig, Zafar Ali, S.C. Smith, A. Stuckey, Muhammad Sajid Hussain, Fatima Rahman, N. Murugaesu, J.C. Ambrose, M. Mueller, K. Sawant, A. Sieghart, E. Walsh, Alistair T. Pagnamenta, Shahid Mahmood Baig, R. Jackson, E.R.A. Thomas, M.B. Pereira, Fowzan S. Alkuraya, K. Witkowska, Augusto Rendon, P. Arumugam, F. Boardman-Pretty, Angelika A. Noegel, Siddharth Banka, Uzma Abdullah, Tim Hubbard, T. Rahim, F.J. Lopez, Dalal K. Bubshait, Louise J. Jones, A. Giess, M.J. Welland, Susanne Motameny, Mehran Beiraghi Toosi, E. Williams, Barbara Vona, Arianna Tucci, K. Savage, Florence Molinari, Florence Riccardi, Mark J. Caulfield, I.U. Leong, M. Kayikci, Muhammad Jameel, Christian Beetz, A. Kousathanas, A. Siddiq, T. Fowler, Yun Li, Jozef Hertecant, M. Bleda, F. Maleady-Crowe, Birgit Budde, Sofia Douzgou, Wolfgang Höhne, C.A. Odhams, Laurent Villard, Janine Altmüller, S.R. Thompson, Lesley C. Adès, Christine Patch, Aboulfazl Rad, P. O’Donovan, A.C. Need, S. M. Wood, L. Lahnstein, L. Moutsianas, Büşranur Çavdarlı, Reza Maroofian, S. Henderson, Tobias Scherf de Almeida, D. Perez-Gil, Tipu Sultan, T. Rogers, Stephanie Efthymiou, Shazia Maqbool, G.C. Chan, A. Sosinsky, Jayne Antony, H. Brittain, R.H. Scott, Peter Nürnberg, Bernd Wollnik, Matthew Osmond

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01260-4⟩
Genomics England Research Consortium 2021, ' Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01260-4

PURPOSE: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition.METHODS: We performed a detailed clinical characterization of 19 ind

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c59f5c4822ac8d7c57e3efbd28beeed
https://hal.archives-ouvertes.fr/hal-03322569