Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Marie-Francoise Odou"'
Autor:
Arnaud Lagarde, Gregory Mougel, Lucie Coppin, Magalie Haissaguerre, Collen Lauriane Le, Marc Klein, Marie-Francoise Odou, Antoine Tabarin, Hedia Brixi, Brigitte Delemer, Anne Barlier, Pauline Romanet
Publikováno v:
Endocrine Abstracts.
Autor:
J. Najib, Michel Crépin, Malika Balduyck, Marie Francoise Odou, Farid Zerimech, Nabiha Mikou, Zineb Jouhadi, Ahmed Aziz Bousfiha, Nicole Porchet
Publikováno v:
Respiratory Medicine Case Reports, Vol 24, Iss, Pp 58-62 (2018)
Respiratory Medicine Case Reports
Respiratory Medicine Case Reports
Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis.Here we report
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:
Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck, Philippe Joly
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury
Externí odkaz:
https://doaj.org/article/b0322c1477fe4b738a1caf0e33bd818d
Autor:
Zineb Jouhadi, Marie Francoise Odou, Farid Zerimech, Ahmed Aziz Bousfiha, Nabiha Mikou, Nicole Porchet, Michel Crepin, Jilali Najib, Malika Balduyck
Publikováno v:
Respiratory Medicine Case Reports, Vol 24, Iss , Pp 58-62 (2018)
Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis.Here we report
Externí odkaz:
https://doaj.org/article/dcd88318babf4290915c357de06ce538