Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms
Lagarde, Arnaud, Mougel, Grégory, Coppin, Lucie, Haissaguerre, Magalie, Le Collen, Lauriane, Mohamed, Amira, Klein, Marc, Odou, Marie-Françoise, Tabarin, Antoine, Brixi, Hedia, Cuny, Thomas, Delemer, Brigitte, Barlier, Anne, Romanet, Pauline
Published in Endocrine Connections (01.11.2022)
Published in Endocrine Connections (01.11.2022)
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Journal Article
Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism
Lagarde, Arnaud, Collen, Lauriane Le, Boulagnon, Camille, Brixi, Hedia, Durlach, Anne, Mougel, Gregory, Cuny, Thomas, Delemer, Brigitte, Barlier, Anne, Romanet, Pauline
Published in The journal of clinical endocrinology and metabolism (01.10.2022)
Published in The journal of clinical endocrinology and metabolism (01.10.2022)
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Journal Article
Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine
Kouidrat, Youssef, Le Collen, Lauriane, Vaxillaire, Martine, Dechaume, Aurélie, Toussaint, Bénédicte, Vaillant, Emmanuel, Amanzougarene, Souhila, Derhourhi, Mehdi, Delemer, Brigitte, Azahaf, Mustapha, Froguel, Philippe, Bonnefond, Amélie
Published in Diabetes & metabolism (01.01.2024)
Published in Diabetes & metabolism (01.01.2024)
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Journal Article
SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
Branzoli, Francesca, Salgues, Betty, Marjańska, Małgorzata, Laloi-Michelin, Marie, Herman, Philippe, Le Collen, Lauriane, Delemer, Brigitte, Riancho, Julien, Kuhn, Emmanuelle, Jublanc, Christel, Burnichon, Nelly, Amar, Laurence, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Buffet, Alexandre, Lussey-Lepoutre, Charlotte
Published in Endocrine-related cancer (01.02.2023)
Published in Endocrine-related cancer (01.02.2023)
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Journal Article
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features
Le Collen, Lauriane, Barraud, Sara, Braconnier, Antoine, Coppin, Lucie, Zachar, Dominique, Boulagnon, Camille, Deguelte, Sophie, Souchon, Pierre François, Spodenkiewicz, Marta, Poirsier, Céline, Aubert, Sébastien, Odou, Marie Françoise, Delemer, Brigitte
Published in Endocrine (01.09.2021)
Published in Endocrine (01.09.2021)
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Journal Article
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine
Published in Orphanet journal of rare diseases (28.02.2022)
Published in Orphanet journal of rare diseases (28.02.2022)
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Journal Article
Towards the recognition of oligogenic forms of type 2 diabetes
Le Collen, Lauriane, Froguel, Philippe, Bonnefond, Amélie
Published in Trends in endocrinology and metabolism (01.07.2024)
Published in Trends in endocrinology and metabolism (01.07.2024)
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Journal Article
Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy
Mosbah, Héléna, Vatier, Camille, Andriss, Béatrice, Belalem, Inès, Delemer, Brigitte, Janmaat, Sonja, Jéru, Isabelle, Le Collen, Lauriane, Maiter, Dominique, Nobécourt, Estelle, Vantyghem, Marie-Christine, Vigouroux, Corinne, Dumas, Agnes
Published in European journal of endocrinology (03.01.2024)
Published in European journal of endocrinology (03.01.2024)
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Journal Article
Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy
Mosbah, Héléna, Vatier, Camille, Andriss, Béatrice, Belalem, Inès, Delemer, Brigitte, Janmaat, Sonja, Jéru, Isabelle, Le Collen, Lauriane, Maiter, Dominique, Nobécourt, Estelle, Vantyghem, Marie-Christine, Béliard, Sophie, Briet, Claire, Donadille, Bruno, Dubois, Noémie, Gilly, Olivier, Jelliman, Stéphanie, Maître, Julie, Reznik, Yves, Rimareix, Frédérique, Vergès, Bruno, Vigouroux, Corinne, Dumas, Agnes
Published in European journal of endocrinology (03.01.2024)
Published in European journal of endocrinology (03.01.2024)
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Journal Article
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?
Coppin, Lucie, Giraud, Sophie, Pasmant, Eric, Lagarde, Arnaud, North, Marie-Odile, Le-Collen, Lauriane, Aubert, Valérie, Mougel, Grégory, Ladsous, Miriam, Louboutin, Alyzée, Brixi, Hedia, Haissaguerre, Magalie, Scheyer, Nicolas, Klein, Marc, Tabarin, Antoine, Delemer, Brigitte, Barlier, Anne, Odou, Marie-Françoise, Romanet, Pauline
Published in European journal of endocrinology (01.07.2022)
Published in European journal of endocrinology (01.07.2022)
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Journal Article
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use
Le Collen, Lauriane, Delemer, Brigitte, Poitou, Christine, Vaxillaire, Martine, Toussaint, Bénédicte, Dechaume, Aurélie, Badreddine, Alaa, Boissel, Mathilde, Derhourhi, Mehdi, Clément, Karine, Petit, Jean M., Mau-Them, Frédéric Tran, Bruel, Ange-Line, Thauvin-Robinet, Christel, Saveanu, Alexandru, Cherifi, Blandine Gatta, Le Beyec-Le Bihan, Johanne, Froguel, Philippe, Bonnefond, Amélie
Published in Genetics in medicine (01.07.2023)
Published in Genetics in medicine (01.07.2023)
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Journal Article
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine
Published in Orphanet journal of rare diseases (28.02.2022)
Published in Orphanet journal of rare diseases (28.02.2022)
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Journal Article