Výsledky vyhledávání - "Syndrome de Prader-Willi"

Le rôle de la SUMOylation dans la différenciation du cortex surrénalien

Autor: Dufour, Damien

Publikováno v: Biochimie, Biologie Moléculaire. Université Clermont Auvergne, 2022. Français. ⟨NNT : 2022UCFAC037⟩

The adrenal cortex, the endocrine centre of the stress response, produces corticosteroids essential for hydromineral and metabolic homeostasis. It is organised, in mice, in two concentric layers. The zona glomerulosa (zG) and fasciculata (zF), renewe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2885::74009790afc22eb821d04bb08b92670e
https://theses.hal.science/tel-03998374/document

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Contribution of cognitive psychology to the development of a planning remediation program for patients with Prader-Willi syndrome. : Study of its effects in terms of development of executive capacity and adaptation

Autor: Estival, Séverine

Publikováno v: Psychologie. Université de Bordeaux, 2019. Français. ⟨NNT : 2019BORD0328⟩

Prader-Willi Syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with behavioural (obsession with food, emotional lability) and cognitive disorders. Pathology is usually associated with low intellectual level as well as impaired e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eaee02215f69d53f127baa0b7c39b85c
https://tel.archives-ouvertes.fr/tel-03475587

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Traitement des signaux de communication dans le syndrome de Prader-Willi : aspects descriptifs, analytiques et évolutifs

Autor: Debladis, Jimmy

Publikováno v: Neurosciences. Université Paul Sabatier-Toulouse III, 2019. Français. ⟨NNT : 2019TOU30036⟩

Prader-Willi syndrome (PWS) is a rare genetic syndrome affecting around 1 in 20,000 births in France. The two most frequent genetic origins are either a deletion in the 15q11q12 region on the paternal chromosome 15 or maternal uniparental disomy. Thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2592::c608db8881c568db7668981cc96f222b
https://tel.archives-ouvertes.fr/tel-02896490/file/2019TOU30036a.pdf

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Compétences émotionnelles des enfants avec syndrome de Prader-Willi : approche développementale, intégrative et thérapeutique

Autor: Famelart, Nawelle

Publikováno v: Psychologie. Université Toulouse le Mirail-Toulouse II, 2018. Français. ⟨NNT : 2018TOU20091⟩

Currently, we have very limited knowledge about the emotional functioning of people with Prader-Willi Syndrome (PWS) and the development during childhood. The literature describes symptoms such as temper tantrums, emotional lability, impulsive and an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e9dd3ccd7791488308c5866fc1c4c5bb
https://tel.archives-ouvertes.fr/tel-02870623

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Le diagnostic et la prise en charge précoces des troubles alimentaires chez les nourrissons atteints du syndrome de Prader-Willi

Autor: Gérard, Marie

Le syndrome de Prader-Willi est une maladie génétique neurodéveloppementale où les troubles alimentaires sont présents dès la naissance. Cette étude a été réalisée dans le but de montrer l’importance de la précocité du diagnostic et de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1493::3bc23c88d1f775ce12a8de4ec29dd7f4
https://hdl.handle.net/2078.1/thesis:11864

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Psychological, cognitive and behavioral aspects of children with Prader-Willi syndrom described in two transversal and one longitudinal study

Autor: Glattard, Mélanie

Publikováno v: Psychologie. Université Toulouse le Mirail-Toulouse II, 2012. Français. ⟨NNT : 2012TOU20042⟩

Our aim was to describe the psychologic, cognitive and behavioral characteristics of children with Prader-Willi syndrom (PWS). The cohort includes 36 children from 2.5 to 15 years regularly followed in the French reference centre for PWS. Three prosp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::64895a17a3e27ff3c8617274f174e6a9
https://tel.archives-ouvertes.fr/tel-00718614

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Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region

Autor: Jean Thibault, Marie-Geneviève Mattei, Perrine Malzac, Gilles Bruneau

Publikováno v: Human Genetics
Human Genetics, Springer Verlag, 1996, 97, pp.359-361

Using a rat histidine decarboxylase (HDC) cDNA probe, we have mapped the HDC gene by in situ hybridization to the ql5–q2l region of human chromosom e15 and to the E5-G region of murine chromosome 2. These localizations strengthen a syntenic group c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe1db2dc94a092e407464e7b437179b
https://hal.inrae.fr/hal-02695364

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