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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
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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
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hal-01975613v1
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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.
Article dans une revue
hal-04522637v1
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Clinical management of difficult to treat macroprolactinomas
Nicolas Sahakian
,
Frederic Castinetti
,
Henry Dufour
,
Thomas Graillon
,
Pauline Romanet
,
et al.
Article dans une revue
hal-02462185v1
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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.
Article dans une revue
hal-03800311v1
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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.
Article dans une revue
hal-04014019v1
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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.
Article dans une revue
hal-01876274v1
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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.
Article dans une revue
hal-01731580v1
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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.
Article dans une revue
hal-03288514v1
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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.
Article dans une revue
hal-01731588v1
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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.
Article dans une revue
inserm-02992696v1
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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.
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.
Article dans une revue
hal-04191309v1
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F-18-FDOPA PET/CT Imaging of MAX-Related Pheochromocytoma
David Taieb
,
Abhishek Jha
,
Carole Guerin
,
Ying Pang
,
Karen T. Adams
,
et al.
Article dans une revue
hal-02143581v1
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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.
Article dans une revue
hal-04013616v1
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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
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.
Article dans une revue
hal-03223143v1
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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.
Article dans une revue
hal-01794125v1
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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.
Article dans une revue
hal-02461447v1
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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)
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hal-02000319v1
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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.
Article dans une revue
hal-01975538v1
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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.
Article dans une revue
hal-04191241v1
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Implications of SDHB genetic testing in patients with sporadic pheochromocytoma
Aurelie Maignan
,
Carole Guerin
,
Valentin Julliard
,
Nunzia-Cinzia Paladino
,
Edward Kim
,
et al.
Article dans une revue
hal-01787692v1
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Editorial: New insights into multiple endocrine neoplasia type 1
Anne Barlier
,
Pauline Romanet
,
Natalia S. Pellegata
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.
Article dans une revue
hal-03692445v1
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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.
Article dans une revue
hal-02121901v1
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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
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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.
Article dans une revue
hal-03662789v1
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Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel- Lindau disease spectrum or with paraganglioma
Alexandre Buffet
,
Bruna Calsina
,
Shahida Flores
,
Sophie Giraud
,
Marion Lenglet
,
et al.
Article dans une revue
hal-02484923v1
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