Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Chantal, Missirian"'
Autor:
Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.
Externí odkaz:
https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
Autor:
Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, Tiffany Busa, Maude Grelet, Chantal Missirian, Sabine Sigaudy, Nicole Philip, France Leturcq, Nicolas Lévy, Martin Krahn, Marc Bartoli
Publikováno v:
Genes, Vol 13, Iss 7, p 1277 (2022)
Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to improvement of the phenotype. It is therefore crit
Externí odkaz:
https://doaj.org/article/dd4ff7179ec0430283de7589b1564b22
Autor:
Jokthan Guivarch, Clarisse Chatel, Jeremie Mortreux, Chantal Missirian, Nicole Philip, François Poinso
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-6 (2018)
Abstract Background Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number
Externí odkaz:
https://doaj.org/article/b36eca79f6fe4219a5e243701e83bf42
Autor:
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Autor:
Uffe Birk Jensen, Tiffany Busa, Simon Holden, Thorkild Terkelsen, Niels Ove Illum, Christina R. Fagerberg, Chantal Missirian, Kate Chandler, Charlotte Brasch-Andersen
Publikováno v:
Terkelsen, T, Brasch-Andersen, C, Illum, N, Busa, T, Missirian, C, Chandler, K, Holden, S T, Jensen, U B & Fagerberg, C R 2022, ' Mono-allelic loss of YTHDF3 and neurodevelopmental disorder : clinical features of four individuals with 8q12.3 deletions ', Clinical Genetics, vol. 101, no. 2, pp. 208-213 . https://doi.org/10.1111/cge.14083
The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m6A) modification of eukaryotic mRNA, which plays an essential role in regulating mRNA stability and is necessary to achieve normal development of the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcfd694b1b413e6ad4147398b027c8ee
https://pure.au.dk/portal/da/publications/monoallelic-loss-of-ythdf3-and-neurodevelopmental-disorder(203b4b52-de15-4c1c-87d1-c237ad111231).html
https://pure.au.dk/portal/da/publications/monoallelic-loss-of-ythdf3-and-neurodevelopmental-disorder(203b4b52-de15-4c1c-87d1-c237ad111231).html
Autor:
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot‐Bastaraud, Marie‐France Portnoï, Marie‐Christine Nouguès, Marie‐Laure Moutard, Anne Faudet, Sandra Whalen, Damien Haye, Catherine Garel, Nicolas Chatron, Massimiliano Rossi, Catherine Vincent‐Delorme, Odile Boute, Bruno Delobel, Joris Andrieux, Françoise Devillard, Charles Coutton, Jacques Puechberty, Céline Pebrel‐Richard, Cindy Colson, Marion Gerard, Chantal Missirian, Sabine Sigaudy, Tiffany Busa, Martine Doco‐Fenzy, Valérie Malan, Marlène Rio, Bérénice Doray, Damien Sanlaville, Jean‐Pierre Siffroi, Delphine Héron, Solveig Heide
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
International audience; Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usual
Autor:
Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Genevieve, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, OIivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon
BackgroundDespite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders diagnostic workup, looking for copy number variations (CNVs), with a diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802e35e0415f3246533a03d287191c78
https://doi.org/10.1101/2021.10.14.21264732
https://doi.org/10.1101/2021.10.14.21264732
Autor:
Uffe Birk Jensen, Thorkild Terkelsen, Chantal Missirian, Simon Holden, Tiffany Busa, Christina R. Fagerberg, Niels Ove Illum, Charlotte Brasch-Andersen, Kate Chandler
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a993f60bc599fb2beaef3072092f57c1
https://doi.org/10.1111/cge.14083/v2/response1
https://doi.org/10.1111/cge.14083/v2/response1
Autor:
Julie Masson, Linda Pons, Tiffany Busa, Chantal Missirian, Matthew Lines, Hélène Tevissen, Flavie Diguet, Pierre-Antoine Rollat-Farnier, Gaétan Lesca, Damien Sanlaville, Caroline Schluth-Bolard
Publikováno v:
European journal of medical genetics. 65(4)
TCF4 gene (18q21.1) encodes for a transcription factor with multiple isoforms playing a critical role during neurodevelopment. Molecular alterations of this gene are associated with Pitt-Hopkins syndrome, a severe condition characterized by intellect
Autor:
Nicole Philip, Chantal Missirian, Jérémie Mortreux, Emilie Alazard, Maude Grelet, Sabine Sigaudy
Publikováno v:
Clinical Dysmorphology. 28:205-210
Gonadal mosaicism has been reported in a variety of dominant or X-linked conditions and should be considered in all cases of apparent de-novo variation. Recently, some cases of supposed parental germline mosaicism have been shown to result from low-l