Výsledky vyhledávání - "MESH: Prader-Willi Syndrome"

The RDoC approach for translational psychiatry

Autor: Salles, Juliette, Lacassagne, Emmanuelle, Benvegnu, Grégoire, Berthoumieu, Sophie Çabal, Franchitto, Nicolas, Tauber, Maithé

Publikováno v: Translational Psychiatry
Translational Psychiatry, 2020, 10, pp.274. ⟨10.1038/s41398-020-00964-6⟩

International audience; The Research Domain Criteria project (RDoc) proposes a new classification system based on information from several fields in order to encourage translational perspectives. Nevertheless, integrating genetic markers into this cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1398::41ffaee741d763fc9eb138d306ea61ab
https://ut3-toulouseinp.hal.science/hal-03588869/document

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What can we learn from PWS and SNORD116 genes about the pathophysiology of addictive disorders?

Autor: Maithé Tauber, Nicolas Franchitto, Emmanuelle Lacassagne, Jean-Pierre Salles, Juliette Salles, Sanaa Eddiry

Publikováno v: Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2021, 26 (1), pp.51-59. ⟨10.1038/s41380-020-00917-x⟩

International audience; Addictive disorders have been much investigated and many studies have underlined the role of environmental factors such as social interaction in the vulnerability to and maintenance of addictive behaviors. Research on addictio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af548654b95caf1a195c05d7abac37c6
https://pubmed.ncbi.nlm.nih.gov/33082508

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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
European Journal of Medical Genetics, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩

International audience; Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074f639635dc9c567f08554df032a053
https://doi.org/10.1016/j.ejmg.2020.104064

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Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients

Autor: Catherine Arnaud, Geneviève Demeer, Virginie Ehlinger, Virginie Laurier, Denise Thuilleaux, Maithé Tauber, Joseba Jauregui, Catherine Molinas, Carine Mantoulan, Bernadette Rogé, Gwenaelle Diene, Pierre Copet

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.47. ⟨10.1186/1750-1172-6-47⟩
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 47 (2011)
Orphanet Journal of Rare Diseases, BioMed Central, 2011, 6 (1), pp.47. ⟨10.1186/1750-1172-6-47⟩

Background Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9dbdb5d90315dfb3b2102e76e16d50b
https://www.hal.inserm.fr/inserm-00663634/document

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Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

Autor: Wolfgang Maier, Michael Wagner, Daniel Moreno-De-Luca, Richard Delorme, Catalina Betancur, Aurélie Gennetier, Peter Falkai, Rainald Mössner, Stephan Ruhrmann, Hans J. Grabe, Marion Leboyer, Marie-Christine Mouren, Pauline Chaste

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, BioMed Central, 2010, 11, pp.100. ⟨10.1186/1471-2350-11-100⟩
BMC Medical Genetics, Vol 11, Iss 1, p 100 (2010)
BMC Medical Genetics, 2010, 11, pp.100. ⟨10.1186/1471-2350-11-100⟩

Background Obsessive-compulsive disorder (OCD) is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d92d7255cbbd60144c718e7f0a96027
https://www.hal.inserm.fr/inserm-00520828/document

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Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snoRNA gene arrays

Autor: Patrice Vitali, Jérôme Cavaille, Marie-Line Bortolin-Cavaille, Virginie Marty, Hélène Royo

Publikováno v: Journal of Cell Science
Journal of Cell Science, Company of Biologists, 2010, 123 (Pt 1), pp.70-83. ⟨10.1242/jcs.054957⟩

International audience; The imprinted Snurf-Snrpn domain, also referred to as the Prader-Willi syndrome region, contains two approximately 100-200 kb arrays of repeated small nucleolar (sno)RNAs processed from introns of long, paternally expressed no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5adb4d05b997d0b8a0e6b09873ac04
https://hal.archives-ouvertes.fr/hal-00611871

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Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders

Publikováno v: Biological Psychiatry
Biological Psychiatry, Elsevier, 2009, 66 (4), pp.349-59. ⟨10.1016/j.biopsych.2009.01.025⟩
Biological Psychiatry, 2009, 66 (4), pp.349-59. ⟨10.1016/j.biopsych.2009.01.025⟩

International audience; BACKGROUND: Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18e2af472c50efa67b6b4e07793efc46
https://www.hal.inserm.fr/inserm-00369261/document

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Necdin Plays a Role in the Serotonergic Modulation of the Mouse Respiratory Network: Implication for Prader-Willi Syndrome

Autor: Gwenaelle Diene, Catherine Gire, Sebastien Zanella, Fabienne Marly, Françoise Muscatelli, Maïté Tauber, Gérard Hilaire, Saida Mebarek, Françoise Watrin, Michel Roussel

Publikováno v: Journal of Neuroscience
Journal of Neuroscience, Society for Neuroscience, 2008, 28 (7), pp.1745-1755. ⟨10.1523/JNEUROSCI.4334-07.2008⟩
Journal of Neuroscience, Society for Neuroscience, 2008, 28 (7), pp.1745-55. ⟨10.1523/JNEUROSCI.4334-07.2008⟩
Journal of Neuroscience, 2008, 28 (7), pp.1745-1755. ⟨10.1523/JNEUROSCI.4334-07.2008⟩
Journal of Neuroscience, 2008, 28 (7), pp.1745-55. ⟨10.1523/JNEUROSCI.4334-07.2008⟩

Prader-Willi syndrome is a neurogenetic disease resulting from the absence of paternal expression of several imprinted genes, includingNECDIN. Prader-Willi children and adults have severe breathing defects with irregular rhythm, frequent sleep apneas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d28a6dbef187e273cca3030d69d3693
https://hal.archives-ouvertes.fr/hal-03437048

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Necdin gene, respiratory disturbances and Prader-Willi syndrome

Autor: Zanella, Sébastien, Barthelemy, Magali, Muscatelli, Françoise, Hilaire, Gérard

Publikováno v: Advances in Experimental Medicine and Biology
Advances in Experimental Medicine and Biology, 2008, 605 (4), pp.159-164. ⟨10.1007/978-0-387-73693-8_28⟩
Advances in Experimental Medicine and Biology, Kluwer, 2008, 605 (4), pp.159-164. ⟨10.1007/978-0-387-73693-8_28⟩

International audience; Prader-Willi Syndrome (PWS) is a complex neurogenetic disease with various symptoms, including breathing deficits and possible alteration of serotonin (5HT) metabolism. As PWS results from the absence of paternal expression of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c91b187f07c25aa1e061610bb0f29d78
https://hal.science/hal-00321671

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