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Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review

Benjamin Chevalier , Lucie Coppin , Pauline Romanet , Thomas Cuny , Jean-Christophe Maïza , et al.
Journal of Clinical Endocrinology and Metabolism, 2024, ⟨10.1210/clinem/dgae055⟩
Article dans une revue hal-04522637v1

Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.

Pauline Romanet , Lindsay Osei , Irène Netchine , Morgane Pertuit , Alain Enjalbert , et al.
Pediatrics, 2015, 135 (4), pp.e1079-83
Article dans une revue hal-01188625v1
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Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome

Pauline Romanet , Pascal Philibert , Frederic Fina , Thomas Cuny , Catherine Roche , et al.
The Journal of Pediatrics, 2018
Article dans une revue hal-01975613v1

Quantitative F-18-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype

Vincent Amodru , Carole Guerin , Sarkis Delcourt , Pauline Romanet , Anderson Loundou , et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2018, 45 (2), pp.278-282. ⟨10.1007/s00259-017-3833-y⟩
Article dans une revue hal-01876274v1
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Somatotroph Tumors and the Epigenetic Status of the GNAS Locus

Pauline Romanet , Justine Galluso , Peter Kamenicky , Mirella Hage , Marily Theodoropoulou , et al.
International Journal of Molecular Sciences, 2021, 22 (14), pp.7570. ⟨10.3390/ijms22147570⟩
Article dans une revue hal-03288514v1
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Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers

Maylis Lebeault , Stéphane Pinson , Marine Guillaud-Bataille , Anne Gimenez-Roqueplo , Alain Carrié , et al.
Thyroid, 2017, 27 (12), pp.1511-1522. ⟨10.1089/thy.2016.0399⟩
Article dans une revue hal-01731580v1
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Clinical management of difficult to treat macroprolactinomas

Nicolas Sahakian , Frederic Castinetti , Henry Dufour , Thomas Graillon , Pauline Romanet , et al.
Expert Review of Endocrinology and Metabolism, 2019, 14 (3), pp.179-192. ⟨10.1080/17446651.2019.1596024⟩
Article dans une revue hal-02462185v1
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Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?

Lucie Coppin , Sophie Giraud , Eric Pasmant , Arnaud Lagarde , Marie-Odile North , et al.
European Journal of Endocrinology, 2023, 187 (1), pp.K1-K6. ⟨10.1530/EJE-22-0171⟩
Article dans une revue hal-04014019v1
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Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism

Arnaud Lagarde , Lauriane Le Collen , Camille Boulagnon , Hedia Brixi , Anne Durlach , et al.
Journal of Clinical Endocrinology and Metabolism, 2022, 107 (10), pp.e4154-e4158. ⟨10.1210/clinem/dgac454⟩
Article dans une revue hal-03800311v1
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Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms

Carole Guerin , Pauline Romanet , David Taieb , Thierry Brue , André Lacroix , et al.
Endocrine-Related Cancer, 2018, 25 (2), pp.T15 - T28. ⟨10.1530/ERC-17-0266⟩
Article dans une revue hal-01731588v1
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Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports

Thi Thom Mac , Frédéric Castinetti , Celine Bar , Sophie Julia , Marlene Pasquet , et al.
Journal of Neuroendocrinology, 2023, ⟨10.1111/jne.13287⟩
Article dans une revue hal-04254098v1
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Letter to the Editor: The Somatic RET M918T Variant May Modify the Natural History of Germline RET L790F MEN2-Related Medullary Thyroid Carcinoma

Nicolas Sahakian , Pauline Romanet , Delphine Mirebeau-Prunier , Cinzia Paladino , Frederic Castinetti , et al.
Thyroid, In press, ⟨10.1089/thy.2023.0110⟩
Article dans une revue hal-04191309v1

F-18-FDOPA PET/CT Imaging of MAX-Related Pheochromocytoma

David Taieb , Abhishek Jha , Carole Guerin , Ying Pang , Karen T. Adams , et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2018, 103 (4), pp.1574-1582. ⟨10.1210/jc.2017-02324⟩
Article dans une revue hal-02143581v1
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Development of molecular analyzes by digital PCR for clinical practice: positioning, current applications and perspectives

Jérôme Alexandre Denis , Alexandre Perrier , Juliette Nectoux , Pierre-Jean Lamy , Anne-Sophie Alary , et al.
Annales de Biologie Clinique, 2019, 77 (6), pp.619-637. ⟨10.1684/abc.2019.1502⟩
Article dans une revue inserm-02992696v1

Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene

Thibault Bahougne , Pauline Romanet , Amira Mohamed , Kevin Caselles , Thomas Cuny , et al.
Journal of Clinical Medicine, 2018, 7 (6)
Article dans une revue hal-02000319v1
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Cinacalcet reverses short QT interval in Familial Hypocalciuric Hypercalcemia type 1

Thomas Cuny , Pauline Romanet , Michelle Goldsworthy , Carole Guérin , Marie Wilkin , et al.
The Journal of Clinical Endocrinology & Metabolism, In press, ⟨10.1210/clinem/dgad494⟩
Article dans une revue hal-04191241v1

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma

Aurelie Maignan , Carole Guerin , Valentin Julliard , Nunzia-Cinzia Paladino , Edward Kim , et al.
Langenbeck's Archives of Surgery, 2017, 402 (5), pp.787 - 798. ⟨10.1007/s00423-017-1564-y⟩
Article dans une revue hal-01787692v1
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UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

Pauline Romanet , Amira Mohamed , Sophie Giraud , Marie-Françoise Odou , Marie-Odile North , et al.
Journal of Clinical Endocrinology and Metabolism, 2019, 104 (3), pp.753-764. ⟨10.1210/jc.2018-01170⟩
Article dans une revue hal-01975538v1
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Letter to the Editor From Cuny et al: ``Correlation of Preoperative Imaging Findings and Parathyroidectomy Outcomes Support NICE 2019 Guidance

Thomas Cuny , Pauline Romanet , David Taieb , Frederic Sebag
Journal of Clinical Endocrinology and Metabolism, 2022, 107 (6), pp.E2642-E2643. ⟨10.1210/clinem/dgac123⟩
Article dans une revue hal-03780223v1
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Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET

Nicolas Sahakian , Frédéric Castinetti , Pauline Romanet
Article dans une revue hal-04231638v1
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Germinal defects of SDHx genes in patients with isolated pituitary adenoma

Grégory Mougel , Arnaud Lagarde , Frédérique Albarel , Wassim Essamet , Perrine Luigi , et al.
European Journal of Endocrinology, 2020, 183 (4), pp.369-379. ⟨10.1530/EJE-20-0054⟩
Article dans une revue hal-03223143v1

Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation

Pauline Romanet , Carole Guerin , Pascal Pedini , Wassim Essamet , Frederic Castinetti , et al.
Endocrine Pathology, 2017, 28 (4), pp.302 - 307. ⟨10.1007/s12022-016-9460-5⟩
Article dans une revue hal-01794125v1
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Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms

Arnaud Lagarde , Grégory Mougel , Lucie Coppin , Magalie Haissaguerre , Lauriane Le Collen , et al.
Endocrine Connections, 2022, 11 (11), ⟨10.1530/EC-22-0093⟩
Article dans une revue hal-04013616v1

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

Pauline Romanet , Marie-Francoise Odou , Marie-Odile North , Alexandru Saveanu , Lucie Coppin , et al.
Human Mutation, 2019, 40 (6), pp.661-674. ⟨10.1002/humu.23746⟩
Article dans une revue hal-02461447v1
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Value of Somatostatin Receptor PET/CT in Patients With MEN1 at Various Stages of Their Disease

Clément Mennetrey , Maëlle Le Bras , Aurélie Bando-Delaunay , Laure Al-Mansour , Magalie Haissaguerre , et al.
Journal of Clinical Endocrinology and Metabolism, 2022, 107 (5), pp.e2056-e2064. ⟨10.1210/clinem/dgab891⟩
Article dans une revue hal-03662789v1

Editorial: New insights into multiple endocrine neoplasia type 1

Anne Barlier , Pauline Romanet , Natalia S. Pellegata
Frontiers in Endocrinology, 2023, 14, ⟨10.3389/fendo.2023.1266148⟩
Article dans une revue hal-04254111v1
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Brief CommunicationCirculating tumor DNA is present in the most aggressive meningiomas

Thomas Graillon , Catherine Roche , Noémie Basset , Gregory Mougel , Mikael Meyer , et al.
Neuro-Oncology Advances, 2020, 2 (1), pp.vdaa068. ⟨10.1093/noajnl/vdaa068⟩
Article dans une revue hal-03692445v1

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F‐FDOPA PET/CT study

Vincent Amodru , Pauline Romanet , Ugo Scemama , Marion Montava , Nicolas Fakhry , et al.
Head & Neck, 2018, ⟨10.1002/hed.25604⟩
Article dans une revue hal-02121901v1

Correction to: MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives

Vincent Amodru , Carole Guerin , Pauline Romanet , Nunzia Paladino , Thierry Brue , et al.
Article dans une revue hal-02863890v1

Familial hypocalciuric hypercalcemia: the challenge of diagnosis

Adele Lasbleiz , Nunzia Cinzia Paladino , Pauline Romanet , Frederic Castinetti , Thomas Cuny , et al.
Endocrine, 2022, 75 (2), pp.646-649. ⟨10.1007/s12020-021-02909-5⟩
Article dans une revue hal-03662487v1