A Saveanu

Affiliations

Centre de Référence des Maladies Rares de l'Hypophyse HYPO, Marseille, France; Aix Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille Medical Genetics (MMG), U 1251, Marseille, France; Institut Marseille Maladies Rares (MarMaRa), Marseille, France; Assistance Publique-Hôpitaux de Marseille (AP-HM), Laboratoire de Biologie Moléculaire, Hôpital de la Conception, Marseille, France.

Publications (19)

Germinal defects of SDHx genes in patients with isolated pituitary adenoma.

European journal of endocrinology

Avec: Grégory Mougel , Arnaud Lagarde , Frédérique Albarel , Wassim Essamet , Perrine Luigi , Céline Mouly , Magaly Vialon , Thomas Cuny , Frédéric Castinetti , Alexandru Saveanu , Thierry Brue , Anne Barlier , Pauline Romanet

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Clinical endocrinology

Avec: Nicolas Jullien , Alexandru Saveanu , Julia Vergier , Emeline Marquant , Marie Helene Quentien , Frederic Castinetti , Noémie Galon-Faure , Raja Brauner , Zinet Marrakchi Turki , Maité Tauber , Mohamed El Kholy , Agnès Linglart , Patrice Rodien , Nora Soumeya Fedala , Ignacio Bergada , Christine Cortet-Rudelli , Michel Polak , Marc Nicolino , Chantal Stuckens , Anne Barlier , Thierry Brue , Rachel Reynaud , Auteur inconnu

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.

Human molecular genetics

Avec: Hironori Bando , Michelle L Brinkmeier , Frederic Castinetti , Qing Fang , Mi-Sun Lee , Alexandru Saveanu , Frédérique Albarel , Clémentine Dupuis , Thierry Brue , Sally A Camper

Clinical, radiological, and molecular diagnosis of congenital pituitary diseases causing short stature.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: S Castets , C Villanueva , J Vergier , T Brue , A Saveanu , R Reynaud

Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.

Endocrine

Avec: Katica Bajuk Studen , Magdalena Avbelj Stefanija , Alexandru Saveanu , Anne Barlier , Thierry Brue , Marija Pfeifer

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

Human mutation

Avec: Pauline Romanet , Marie-Françoise Odou , Marie-Odile North , Alexandru Saveanu , Lucie Coppin , Eric Pasmant , Amira Mohamed , Pierre Goudet , Françoise Borson-Chazot , Alain Calender , Christophe Béroud , Nicolas Lévy , Sophie Giraud , Anne Barlier

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.

European journal of human genetics : EJHG

Avec: Nicolas Jullien , Pauline Romanet , Mélanie Philippon , Marie-Hélène Quentien , Paolo Beck-Peccoz , Ignacio Bergada , Sylvie Odent , Rachel Reynaud , Anne Barlier , Alexandru Saveanu , Thierry Brue , Frederic Castinetti

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

Hormone research in paediatrics

Avec: Sarah Castets , Florence Roucher-Boulez , Alexandru Saveanu , Delphine Mallet-Motak , Olivier Chabre , Patrizia Amati-Bonneau , Dominique Bonneau , Celine Girardin , Yves Morel , Carine Villanueva , Thierry Brue , Rachel Reynaud , Marc Nicolino

A novel

Frontiers in endocrinology

Avec: Théo Charnay , Gregory Mougel , Cyril Amouroux , Iva Gueorguieva , Florence Joubert , Morgane Pertuit , Rachel Reynaud , Anne Barlier , Thierry Brue , Alexandru Saveanu

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports.

Journal of neuroendocrinology

Avec: Thi Thom Mac , Frederic Castinetti , Céline Bar , Sophie Julia , Marlene Pasquet , Pauline Romanet , Alexandru Saveanu , Gregory Mougel , Teddy Fauquier , Nicolas Jullien , Anne Barlier , Rachel Reynaud , Thierry Brue

Position statement on the diagnosis and management of congenital pituitary deficiency in adults: the French National Diagnosis and Treatment Protocol (NDTP).

Annales d'endocrinologie

Avec: S Castets , F Albarel , A Bachelot , G Brun , J Bouligand , C Briet , E Bui Quoc , C Cazabat , C Chabbert-Buffet , S Christin-Maitre , C Courtillot , T Cuny , G De Filippo , B Donadille , F Illouz , I Pellegrini , Y Reznik , A Saveanu , N Teissier , P Touraine , M C Vantyghem , J Vergier , J Léger , T Brue , R Reynaud

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations.

European journal of endocrinology

Avec: Julia Vergier , Frederic Castinetti , Alexandru Saveanu , Nadine Girard , Thierry Brue , Rachel Reynaud

Characterization of the ability of a, second-generation SST-DA chimeric molecule, TBR-065, to suppress GH secretion from human GH-secreting adenoma cells.

Pituitary

Avec: Thomas Cuny , Thomas Graillon , Célines Defilles , Rakesh Datta , Shengwen Zhang , Dominique Figarella-Branger , Henry Dufour , Grégory Mougel , Thierry Brue , Tanya Landsman , Heather A Halem , Michael D Culler , Anne Barlier , Alexandru Saveanu

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.

Hormone research in paediatrics

Avec: Rachel Fourneaux , Sarah Castets , Alice Godefroy , Maude Grelet , Juliette Abeillon-du Payrat , Alexandru Saveanu , Frederic Castinetti , Rachel Reynaud

Presence of specific SARS-COV2 antibodies in hemodialysis patients and their caregivers after the first wave of COVID-19.

Scientific reports

Avec: Thomas Robert , Guillaume Lano , Noémie Resseguier , Mickaël Bobot , Dammar Bouchouareb , Stéphane Burtey , Xavier de Lamballerie , Jean Dhorne , Bertrand Dussol , Ariane Duval , Julien Faraut , Toscane Fourié , Philippe Giaime , Mourad Hallah , Dominique Jaubert , Océane Jéhel , Tristan Legris , Stéphane Liotatis , Valérie Moal , Laetitia Ninove , Nathalie Pedinielli , Marion Pelletier , Manon Romeu-Giannoli , Mariela Saba , Marion Sallée , Laurent Samson , Adriana Saveanu , Violaine Scarfoglière , Pascale Sebahoun , Romain Vial , Clarissa Von Kotze , Philippe Brunet , Gaëtan Lebrun , Stanislas Bataille , Noémie Jourde-Chiche

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.

American journal of human genetics

Avec: Peter Gergics , Cathy Smith , Hironori Bando , Alexander A L Jorge , Denise Rockstroh-Lippold , Sebastian A Vishnopolska , Frederic Castinetti , Mariam Maksutova , Luciani Renata Silveira Carvalho , Julia Hoppmann , Julián Martínez Mayer , Frédérique Albarel , Debora Braslavsky , Ana Keselman , Ignacio Bergadá , Marcelo A Martí , Alexandru Saveanu , Anne Barlier , Rami Abou Jamra , Michael H Guo , Andrew Dauber , Marilena Nakaguma , Berenice B Mendonca , Sajini N Jayakody , A Bilge Ozel , Qing Fang , Qianyi Ma , Jun Z Li , Thierry Brue , María Ines Pérez Millán , Ivo J P Arnhold , Roland Pfaeffle , Jacob O Kitzman , Sally A Camper

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: 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

Diagnosis and management of congenital hypopituitarism in children.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: Sarah Castets , Cécile Thomas-Teinturier , Carine Villanueva , Jessica Amsellem , Pascal Barat , Gilles Brun , Emmanuel Bui Quoc , Jean-Claude Carel , Gian Paolo De Filippo , Clara Kipnis , Laetitia Martinerie , Julia Vergier , Alexandru Saveanu , Natacha Teissier , Régis Coutant , Juliane Léger , Rachel Reynaud

IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.

European journal of endocrinology

Avec: Rachel Fourneaux , Rachel Reynaud , Gregory Mougel , Sarah Castets , Patricia Bretones , Benjamin Dauriat , Thomas Edouard , Gerald Raverot , Anne Barlier , Thierry Brue , Frederic Castinetti , Alexandru Saveanu

Réseau de co-auteurs

Alexandru Saveanu 16 collaborations

Thierry Brue 12 collaborations

Anne Barlier 10 collaborations

Rachel Reynaud 9 collaborations

Frederic Castinetti 8 collaborations

Pauline Romanet 4 collaborations

Sarah Castets 4 collaborations

Frédérique Albarel 3 collaborations

Nicolas Jullien 3 collaborations

Julia Vergier 3 collaborations

Gregory Mougel 3 collaborations

Grégory Mougel 2 collaborations

Thomas Cuny 2 collaborations

Ignacio Bergada 2 collaborations

Marc Nicolino 2 collaborations

Hironori Bando 2 collaborations

Qing Fang 2 collaborations

Sally A Camper 2 collaborations

S Castets 2 collaborations

J Vergier 2 collaborations

T Brue 2 collaborations

R Reynaud 2 collaborations

Carine Villanueva 2 collaborations

Rachel Fourneaux 2 collaborations

Arnaud Lagarde 1 collaboration

Wassim Essamet 1 collaboration

Perrine Luigi 1 collaboration

Céline Mouly 1 collaboration

Magaly Vialon 1 collaboration

Frédéric Castinetti 1 collaboration

Emeline Marquant 1 collaboration

Marie Helene Quentien 1 collaboration

Noémie Galon-Faure 1 collaboration

Raja Brauner 1 collaboration

Zinet Marrakchi Turki 1 collaboration

Maité Tauber 1 collaboration

Mohamed El Kholy 1 collaboration

Agnès Linglart 1 collaboration

Patrice Rodien 1 collaboration

Nora Soumeya Fedala 1 collaboration

Christine Cortet-Rudelli 1 collaboration

Michel Polak 1 collaboration

Chantal Stuckens 1 collaboration

None None 1 collaboration

Michelle L Brinkmeier 1 collaboration

Mi-Sun Lee 1 collaboration

Clémentine Dupuis 1 collaboration

C Villanueva 1 collaboration

Katica Bajuk Studen 1 collaboration

Magdalena Avbelj Stefanija 1 collaboration

Marija Pfeifer 1 collaboration

Marie-Françoise Odou 1 collaboration

Marie-Odile North 1 collaboration

Lucie Coppin 1 collaboration

Eric Pasmant 1 collaboration

Amira Mohamed 1 collaboration

Pierre Goudet 1 collaboration

Françoise Borson-Chazot 1 collaboration

Alain Calender 1 collaboration

Christophe Béroud 1 collaboration

Nicolas Lévy 1 collaboration

Sophie Giraud 1 collaboration

Mélanie Philippon 1 collaboration

Marie-Hélène Quentien 1 collaboration

Paolo Beck-Peccoz 1 collaboration

Sylvie Odent 1 collaboration

Florence Roucher-Boulez 1 collaboration

Delphine Mallet-Motak 1 collaboration

Olivier Chabre 1 collaboration

Patrizia Amati-Bonneau 1 collaboration

Dominique Bonneau 1 collaboration

Celine Girardin 1 collaboration

Yves Morel 1 collaboration

Théo Charnay 1 collaboration

Cyril Amouroux 1 collaboration

Iva Gueorguieva 1 collaboration

Florence Joubert 1 collaboration

Morgane Pertuit 1 collaboration

Thi Thom Mac 1 collaboration

Céline Bar 1 collaboration

Sophie Julia 1 collaboration

Marlene Pasquet 1 collaboration

Teddy Fauquier 1 collaboration

F Albarel 1 collaboration

A Bachelot 1 collaboration

G Brun 1 collaboration

J Bouligand 1 collaboration

C Briet 1 collaboration

E Bui Quoc 1 collaboration

C Cazabat 1 collaboration

C Chabbert-Buffet 1 collaboration

S Christin-Maitre 1 collaboration

C Courtillot 1 collaboration

T Cuny 1 collaboration

G De Filippo 1 collaboration

B Donadille 1 collaboration

F Illouz 1 collaboration

I Pellegrini 1 collaboration

Y Reznik 1 collaboration

N Teissier 1 collaboration

P Touraine 1 collaboration

M C Vantyghem 1 collaboration

J Léger 1 collaboration

Nadine Girard 1 collaboration

Thomas Graillon 1 collaboration

Célines Defilles 1 collaboration

Rakesh Datta 1 collaboration

Shengwen Zhang 1 collaboration

Dominique Figarella-Branger 1 collaboration

Henry Dufour 1 collaboration

Tanya Landsman 1 collaboration

Heather A Halem 1 collaboration

Michael D Culler 1 collaboration

Alice Godefroy 1 collaboration

Maude Grelet 1 collaboration

Juliette Abeillon-du Payrat 1 collaboration

Thomas Robert 1 collaboration

Guillaume Lano 1 collaboration

Noémie Resseguier 1 collaboration

Mickaël Bobot 1 collaboration

Dammar Bouchouareb 1 collaboration

Stéphane Burtey 1 collaboration

Xavier de Lamballerie 1 collaboration

Jean Dhorne 1 collaboration

Bertrand Dussol 1 collaboration

Ariane Duval 1 collaboration

Julien Faraut 1 collaboration

Toscane Fourié 1 collaboration

Philippe Giaime 1 collaboration

Mourad Hallah 1 collaboration

Dominique Jaubert 1 collaboration

Océane Jéhel 1 collaboration

Tristan Legris 1 collaboration

Stéphane Liotatis 1 collaboration

Valérie Moal 1 collaboration

Laetitia Ninove 1 collaboration

Nathalie Pedinielli 1 collaboration

Marion Pelletier 1 collaboration

Manon Romeu-Giannoli 1 collaboration

Mariela Saba 1 collaboration

Marion Sallée 1 collaboration

Laurent Samson 1 collaboration

Adriana Saveanu 1 collaboration

Violaine Scarfoglière 1 collaboration

Pascale Sebahoun 1 collaboration

Romain Vial 1 collaboration

Clarissa Von Kotze 1 collaboration

Philippe Brunet 1 collaboration

Gaëtan Lebrun 1 collaboration

Stanislas Bataille 1 collaboration

Noémie Jourde-Chiche 1 collaboration

Peter Gergics 1 collaboration

Cathy Smith 1 collaboration

Alexander A L Jorge 1 collaboration

Denise Rockstroh-Lippold 1 collaboration

Sebastian A Vishnopolska 1 collaboration

Mariam Maksutova 1 collaboration

Luciani Renata Silveira Carvalho 1 collaboration

Julia Hoppmann 1 collaboration

Julián Martínez Mayer 1 collaboration

Debora Braslavsky 1 collaboration

Ana Keselman 1 collaboration

Ignacio Bergadá 1 collaboration

Marcelo A Martí 1 collaboration

Rami Abou Jamra 1 collaboration

Michael H Guo 1 collaboration

Andrew Dauber 1 collaboration

Marilena Nakaguma 1 collaboration

Berenice B Mendonca 1 collaboration

Sajini N Jayakody 1 collaboration

A Bilge Ozel 1 collaboration

Qianyi Ma 1 collaboration

Jun Z Li 1 collaboration

María Ines Pérez Millán 1 collaboration

Ivo J P Arnhold 1 collaboration

Roland Pfaeffle 1 collaboration

Jacob O Kitzman 1 collaboration

Lauriane Le Collen 1 collaboration

Brigitte Delemer 1 collaboration

Christine Poitou 1 collaboration

Martine Vaxillaire 1 collaboration

Bénédicte Toussaint 1 collaboration

Aurélie Dechaume 1 collaboration

Alaa Badreddine 1 collaboration

Mathilde Boissel 1 collaboration

Mehdi Derhourhi 1 collaboration

Karine Clément 1 collaboration

Jean M Petit 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Ange-Line Bruel 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Blandine Gatta Cherifi 1 collaboration

Johanne Le Beyec-Le Bihan 1 collaboration

Philippe Froguel 1 collaboration

Amélie Bonnefond 1 collaboration

Cécile Thomas-Teinturier 1 collaboration

Jessica Amsellem 1 collaboration

Pascal Barat 1 collaboration

Gilles Brun 1 collaboration

Emmanuel Bui Quoc 1 collaboration

Jean-Claude Carel 1 collaboration

Gian Paolo De Filippo 1 collaboration

Clara Kipnis 1 collaboration

Laetitia Martinerie 1 collaboration

Natacha Teissier 1 collaboration

Régis Coutant 1 collaboration

Juliane Léger 1 collaboration

Patricia Bretones 1 collaboration

Benjamin Dauriat 1 collaboration

Thomas Edouard 1 collaboration

Gerald Raverot 1 collaboration