Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Lauriane Le-Collen"'
Autor:
Arnaud Lagarde, Grégory Mougel, Lucie Coppin, Magalie Haissaguerre, Lauriane Le Collen, Amira Mohamed, Marc Klein, Marie-Françoise Odou, Antoine Tabarin, Hedia Brixi, Thomas Cuny, Brigitte Delemer, Anne Barlier, Pauline Romanet
Publikováno v:
Endocrine Connections, Vol 11, Iss 11, Pp 1-8 (2022)
Purpose: Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1). Next-generation sequencing (NGS) offers new possibilities for detecti ng mosaicism.
Externí odkaz:
https://doaj.org/article/950beb9810fc45259d37eaf1892dd502
Autor:
Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different genetic tools to identify
Externí odkaz:
https://doaj.org/article/dd5da5cd92584eff962e351fadeb6a4e
Autor:
Francesca Branzoli, Betty Salgues, Małgorzata Marjańska, Marie Laloi-Michelin, Philippe Herman, Lauriane Le Collen, Brigitte Delemer, Julien Riancho, Emmanuelle Kuhn, Christel Jublanc, Nelly Burnichon, Laurence Amar, Judith Favier, Anne-Paule Gimenez-Roqueplo, Alexandre Buffet, Charlotte Lussey-Lepoutre
Publikováno v:
Endocr Relat Cancer
Germline mutations in genes encoding succinate dehydrogenase (SDH) are frequently involved in pheochromocytoma/paraganglioma (PPGL) development and were implicated in patients with the ‘3PAs’ syndrome (associating pituitary adenoma (PA) and PPGL)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034a6a393a1acebcdcf8f05ade96d619
https://doi.org/10.1530/erc-22-0198
https://doi.org/10.1530/erc-22-0198
Autor:
Lauriane Le Collen, Brigitte Delemer, Christine Poitou, Martine Vaxillaire, Bénédicte Toussaint, Aurélie Dechaume, Alaa Badreddine, Mathilde Boissel, Mehdi Derhourhi, Karine Clément, Jean M. Petit, Frédéric Tran Mau-Them, Ange-Line Bruel, Christel Thauvin-Robinet, Alexandru Saveanu, Blandine Gatta Cherifi, Johanne Le Beyec-Le Bihan, Philippe Froguel, Amélie Bonnefond
Publikováno v:
Genetics in Medicine. 25:100857
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a68674ab4f5425855a393658af29298
https://doi.org/10.1016/j.gim.2023.100857
https://doi.org/10.1016/j.gim.2023.100857
Autor:
Arnaud Lagarde, Lauriane Le Collen, Camille Boulagnon, Hedia Brixi, Anne Durlach, Grégory Mougel, Thomas Cuny, Brigitte Delemer, Anne Barlier, Pauline Romanet
Publikováno v:
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, 107 (10), pp.e4154-e4158. ⟨10.1210/clinem/dgac454⟩
Journal of Clinical Endocrinology and Metabolism, 2022, 107 (10), pp.e4154-e4158. ⟨10.1210/clinem/dgac454⟩
Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by inactivating mutations in the MEN1 gene. In the literature, few cases of MEN1 have been reported because of mosaic MEN1 mutations. Objective We performed an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bdd1d46cb14370036011c85801202b5
https://pubmed.ncbi.nlm.nih.gov/35904487
https://pubmed.ncbi.nlm.nih.gov/35904487
Autor:
Lucie Coppin, Sophie Giraud, Eric Pasmant, Arnaud Lagarde, Marie-Odile North, Lauriane Le-Collen, Valérie Aubert, Grégory Mougel, Miriam Ladsous, Alyzée Louboutin, Hedia Brixi, Magalie Haissaguerre, Nicolas Scheyer, Marc Klein, Antoine Tabarin, Brigitte Delemer, Anne Barlier, Marie-Françoise Odou, Pauline Romanet
Publikováno v:
European Journal of Endocrinology
European Journal of Endocrinology, 2023, 187 (1), pp.K1-K6. ⟨10.1530/EJE-22-0171⟩
European Journal of Endocrinology, 2023, 187 (1), pp.K1-K6. ⟨10.1530/EJE-22-0171⟩
MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of inactivating mutations in the tumor suppressor gene MEN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4bd91c0f81341a025a92eb332916347
https://pubmed.ncbi.nlm.nih.gov/35521764
https://pubmed.ncbi.nlm.nih.gov/35521764
Autor:
Antoine Braconnier, Dominique Zachar, Sophie Deguelte, Lucie Coppin, Céline Poirsier, Marta Spodenkiewicz, Lauriane Le Collen, Camille Boulagnon, Sébastien Aubert, Marie Françoise Odou, Pierre François Souchon, Sara Barraud, Brigitte Delemer
Publikováno v:
Endocrine
Endocrine, Springer, 2021, 73, pp.693-701. ⟨10.1007/s12020-021-02756-4⟩
Endocrine, Springer, 2021, 73, pp.693-701. ⟨10.1007/s12020-021-02756-4⟩
We described the phenotype of a large 4-generation family with Hyperparathyrodism-Jaw Tumor syndrome (HPT-JT) associated with a rare deletion of exon 3 of the CDC73 gene. We collected medical, genetic data on 24 family members descended from a common
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f85f93b50538820be21def9054d01246
https://pubmed.ncbi.nlm.nih.gov/33999366
https://pubmed.ncbi.nlm.nih.gov/33999366