Zobrazeno 1 - 10 of 37 pro vyhledávání: '"MESH: Comparative Genomic Hybridization"'
2
Microdeletion del(22)(q12.1) excluding theMN1gene in a patient with craniofacial anomalies
Autor: Françoise Devillard, Pierre-Simon Jouk, Gaëlle Vieville, Florence Amblard, Fanny Dubois-Teklali, Klaus Dieterich, Sophie Brouillet, Béatrice Morand, Joris Andrieux, Charles Coutton, Véronique Satre, Pierre F. Ray, C Bosson
Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (2), pp.498-503. ⟨10.1002/ajmg.a.37450⟩
American Journal of Medical Genetics Part A, 2016, 170 (2), pp.498-503. ⟨10.1002/ajmg.a.37450⟩
International audience; Several studies have recently reported that 22q12.1 deletions encompassing the MN1 gene are associated with craniofacial anomalies. These observations are consistent with the hypothesis that MN1 haploinsufficiency may be solel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf4313e0899109ca296779c9a21cb039
https://doi.org/10.1002/ajmg.a.37450
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3
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
Autor: Christine Petit, Eberhart Zrenner, Shzeena Dad, Martina Jarc-Vidmar, Maria Antonia Claveria, Alberto Auricchio, Ana Fakin, Marko Hawlina, Gaelle M. Lefèvre, Susanne Kohl, Anne Kurtenbach, Aziz El-Amraoui, Loreto Martorell Sampol, Jesus Rodriguez Jorge, Ditta Zobor, Saddek Mohand-Said, Crystel Bonnet, Ieva Sliesoraityte, Charles Marcaillou, Francesco Testa, Saba Battelino, Jaume Mora, Mélanie Letexier, José-Alain Sahel, Francesca Simonelli, Lisbeth Birk Møller, Sandra Chantot-Bastaraud, Jean-Pierre Hardelin, Isabelle Audo, Zied Riahi, Andrej Zupan, Luce Smagghe, Amrit Singh-Estivalet, Damjan Glavač, Souad Gherbi, Sandro Banfi, Sandrine Marlin
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
International audience; Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1-3) are distinguishable based on the severity of t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afcf7a92c79aeed388ac2681d75dd57
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215026/document
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4
Plant noncoding RNA gene discovery by 'single-genome comparative genomics'
Autor: Liang-Hu Qu, Chong-Jian Chen, Yue-Qin Chen, Hui Zhou, Daniel Gautheret
Publikováno v: RNA
RNA, Cold Spring Harbor Laboratory Press, 2011, 17 (3), pp.390-400. ⟨10.1261/rna.2426511⟩
International audience; Plant genomes have undergone multiple rounds of duplications that contributed massively to the growth of gene families. The structure of resulting families has been studied in depth for protein-coding genes. However, little is
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a685ef3a296f0fd7e1122bebe33086f
https://doi.org/10.1261/rna.2426511
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5
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
Autor: C Le Marechal, R Birkenhäger, Jill L. Elfenbein, Rachel Fisher, S M Da Silva-Costa, Arti Pandya, Edi Lúcia Sartorato, Karen H. Friderici, H Bolz, Eberhard Schneider, G. Van Camp, Richard J.H. Smith, Christian Kubisch, Hela Azaiez, Ellen Wilch, Hannie Kremer, Alessandra Murgia, Thomas Haaf, L. H. Hoefsloot, I del Castillo, Wim Wuyts
Publikováno v: Clinical Genetics, 78, 267-74
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩
Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-sy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81a22f13f414b1582a35773d0e8a9c0
https://doi.org/10.1111/j.1399-0004.2010.01387.x
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6
Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
Autor: Marthe Vilotte, Patrick Calvas, Arnold Munnich, Nicolas Chassaing, Olivier Roche, Akihiko Tawara, Josseline Kaplan, Antoine Guilloux, Alain Regnier, Jean-Yves Douet, Arturo Ramirez-Miranda, Christine Bole-Feysot, Elfride De Baere, Hannah Verdin, Bruno Passet, Yusuke Nakamura, Juan Carlos Zenteno, Hiroyuki Kondo, Masaru Iwai, Ken Yamamoto, Toshihiro Tanaka, Sylvie Gerber, Jean-Michel Rozet, Jean-Luc Vilotte, Wataru Kimura, Lucas Fares-Taie, Isabelle Raymond-Letron, Hugo Moisset, Sylvie Odent
Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. 〈10.1016/j.ajhg.2015.01.014〉
American Journal of Human Genetics, 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
International audience; Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99149e10b70e92d38707142040f9a606
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134461/document
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7
Syntenic relationships between genomic profiles of fiber-induced murine and human malignant mesothelioma
Autor: Françoise Galateau-Sallé, Elodie Manié, Céline Lecomte, Jessica Zucman-Rossi, Aurélien de Reyniès, Pascal Andujar, Jocelyne Fleury-Feith, Marc-Henri Stern, Annie Renier, Marie-Claude Jaurand, Didier Jean, Emilie Thomas, Marco Giovannini
Publikováno v: American Journal of Pathology
American Journal of Pathology, American Society for Investigative Pathology, 2011, 178 (2), pp.881-94. 〈10.1016/j.ajpath.2010.10.039〉
American Journal of Pathology, American Society for Investigative Pathology, 2011, 178 (2), pp.881-94. ⟨10.1016/j.ajpath.2010.10.039⟩
International audience; Malignant mesothelioma (MM) is an aggressive tumor with a poor prognosis mainly linked to past asbestos exposure. Murine models of MM based on fiber exposure have been developed to elucidate the mechanism of mesothelioma forma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a1beb3acb8cefae4ab65fe2a4d2d95b
http://www.hal.inserm.fr/inserm-00531343/file/Tables.pdf
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8
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH
Autor: Bruno Delobel, Emilie Landais, Tania Attié-Bitach, Martine Doco-Fenzy, Eléonore Blondeel, Marlène Rio, Joris Andrieux, Elsa Delaby, Christèle Dubourg, Sylvie Manouvrier-Hanu, Muriel Holder-Espinasse, Henri Copin, Hubert Journel, Sylvie Odent, Michèle Mathieu
Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2009, 149A (12), pp.2813-9. ⟨10.1002/ajmg.a.33097⟩
American Journal of Medical Genetics Part A, 2009, 149A (12), pp.2813-9. ⟨10.1002/ajmg.a.33097⟩
American Journal of Medical Genetics Part A, Wiley, 2009, 149A (12), pp.2813-9. 〈10.1002/ajmg.a.33097〉
International audience; Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array-CGH. Clinical features associate mild to moderate developmental delay, typical facial characteristics (high forehead and fron
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93d1c22ae22c512fe39d4ce159c32a41
https://www.hal.inserm.fr/inserm-00435193/document
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9
Overall genomic pattern is a predictor of outcome in neuroblastoma
Autor: Jérôme Couturier, Dominique Plantaz, Alexander Valent, Agnès Ribeiro, Dominique Valteau-Couanet, Michel Peuchmaur, Caroline Thomas, Evi Michels, Véronique Mosseri, Isabelle Janoueix-Lerosey, Jean Michon, Delphine Lequin, Gudrun Schleiermacher, Hervé Rubie, Olivier Delattre, Angelika Eggert, Raphael Rousseau, Frank Speleman, Joëlle Vermeulen, Valérie Combaret
Publikováno v: Journal of Clinical Oncology
Journal of Clinical Oncology, American Society of Clinical Oncology, 2009, 27 (7), pp.1026-33. 〈10.1200/JCO.2008.16.0630〉
Journal of Clinical Oncology, 2009, 27 (7), pp.1026-33. ⟨10.1200/JCO.2008.16.0630⟩
Journal of Clinical Oncology, American Society of Clinical Oncology, 2009, 27 (7), pp.1026-33. ⟨10.1200/JCO.2008.16.0630⟩
Purpose For a comprehensive overview of the genetic alterations of neuroblastoma, their association and clinical significance, we conducted a whole-genome DNA copy number analysis. Patients and Methods A series of 493 neuroblastoma (NB) samples was i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3b090eec8427818da57a4492a8a17d2
https://www.ncbi.nlm.nih.gov/pubmed/19171713
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10
Comparative genomic analysis provides insights into the evolution and niche adaptation of marine Magnetospira sp. QH-2 strain
Autor: Ji, B. Y., Zhang, S. D., Arnoux, P., Rouy, Z., Alberto, F., Philippe, N., Murat, D., Zhang, W. J., Rioux, J. B., Ginet, N., Sabaty, M., Mangenot, S., Pradel, Nathalie, Tian, J. S., Yang, J., Zhang, L. C., Zhang, W. Y., Pan, H. M., Henrissat, B., Coutinho, P. M., Li, Y., Xiao, T., Medigue, C., Barbe, V., Pignol, D., Talla, E., Wu, L. F.
Publikováno v: Environmental Microbiology
Environmental Microbiology, 2014, 16 (2), pp.525-544. ⟨10.1111/1462-2920.12180⟩
Environmental Microbiology, Wiley-Blackwell, 2014, 16 (2), pp.525-544. ⟨10.1111/1462-2920.12180⟩
Environmental Microbiology, Society for Applied Microbiology and Wiley-Blackwell, 2014, 16 (2), pp.525-544. ⟨10.1111/1462-2920.12180⟩
International audience; Magnetotactic bacteria (MTB) are capable of synthesizing intracellular organelles, the magnetosomes, that are membrane-bounded magnetite or greigite crystals arranged in chains. Although MTB are widely spread in various ecosys
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0160ac0f3f78ac6877111752fb5e41c1
https://cnrs.hal.science/hal-02463127
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