Publications by authors named "Catherine Dode"

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Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.
Sarah Eskenazi, Anne Bachelot, Justine Hugon-Rodin, Genevieve Plu-Bureau, Anne Gompel

J Endocr Soc· July 2021

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Digenic MEFV/TNFRSF1A autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis.
Anne Murarasu, Catherine Dodé, Guillaume Sarrabay, Isabelle Klein, Thomas Papo

Clin Exp Rheumatol· February 2018

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Next-generation sequencing of patients with congenital anosmia.
Anna Alkelai, Tsviya Olender, Catherine Dode, Sagit Shushan, Pavel Tatarskyy

Eur J Hum Genet· December 2017

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Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome.
Thomas Hacquart, Aïcha Ltaief-Boudrigua, Cécile Jeannerod, Salem Hannoun, Gérald Raverot, Catherine Dode

Ann Endocrinol (Paris)· October 2017

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Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.
Séverine Marcos, Carine Monnier, Xavier Rovira, Corinne Fouveaut, Nelly Pitteloud

Hum Mol Genet· June 2017

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First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome.
Justine Hugon-Rodin, Charlotte Sonigo, Anne Gompel, Catherine Dodé, Michael Grynberg

BMC Med Genet· April 2017

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Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Kemal Azibi

J Clin Endocrinol Metab· December 2016

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Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Jin-Ho Choi, Ravikumar Balasubramanian, Phil H Lee, Natalie D Shaw, Janet E Hall, Catherine Dode

J Clin Endocrinol Metab· October 2015

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Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Ulrich Boehm, Pierre-Marc Bouloux, Mehul T Dattani, Nicolas de Roux, Catherine Dodé

Nat Rev Endocrinol· September 2015

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New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.
Justine Bouilly, Florence Roucher-Boulez, Anne Gompel, Hélène Bry-Gauillard, Kemal Azibi

J Clin Endocrinol Metab· March 2015

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The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Séverine Marcos, Julie Sarfati, Chrystel Leroy, Corinne Fouveaut, Philippe Parent

J Clin Endocrinol Metab· October 2014

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Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.
Oualid Sbai, Carine Monnier, Catherine Dodé, Jean-Philippe Pin, Jean-Pierre Hardelin

FASEB J· August 2014

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Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders.
Isabelle Jéru, Serge Charmion, Emmanuelle Cochet, Bruno Copin, Philippe Duquesnoy

PLoS One· February 2014

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Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
Julie Sarfati, Corinne Fouveaut, Chrystel Leroy, Marc Jeanpierre, Jean-Pierre Hardelin

Eur J Endocrinol· December 2013

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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Aurélie Vasson, Céline Leroux, Lucie Orhant, Mathieu Boimard, Aurélie Toussaint

Eur J Hum Genet· September 2013

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Recurrent limb and facial oedema with R92Q mutation: a non-febrile late-onset tumour necrosis factor receptor-associated periodic syndrome (TRAPS)?
Hélène Maillard-Lefebvre, Hilaire Charlanne, Pierre-Yves Hatron, Catherine Dodé, Eric Hachulla

Presse Med· May 2013

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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Veronique Pingault, Virginie Bodereau, Viviane Baral, Severine Marcos, Yuli Watanabe

Am J Hum Genet· May 2013

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PROK2/PROKR2 Signaling and Kallmann Syndrome.
Catherine Dodé, Philippe Rondard

Front Endocrinol (Lausanne)· April 2013

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An ancient founder mutation in PROKR2 impairs human reproduction.
Magdalena Avbelj Stefanija, Marc Jeanpierre, Gerasimos P Sykiotis, Jacques Young, Richard Quinton, Catherine Dode

Hum Mol Genet· October 2012

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SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
Naresh Kumar Hanchate, Paolo Giacobini, Pierre Lhuillier, Jyoti Parkash, Cécile Espy

PLoS Genet· August 2012

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Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.
Claire Bouvattier, Luigi Maione, Jérôme Bouligand, Catherine Dodé, Anne Guiochon-Mantel

Nat Rev Endocrinol· October 2011

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[Kallmann syndrome - a fetopathological sequence].
Fabien Guimiot, Luis Teixeira, Catherine Dodé, Anne-Lise Delezoide, Jean-Pierre Hardelin

Med Sci (Paris)· February 2011

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Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations.
Julie Sarfati, Catherine Dodé, Jacques Young

Front Horm Res· December 2010

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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.
Luis Teixeira, Fabien Guimiot, Catherine Dodé, Catherine Fallet-Bianco, Robert P Millar

J Clin Invest· October 2010

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A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.
Julie Sarfati, Anne Guiochon-Mantel, Philippe Rondard, Isabelle Arnulf, Alfons Garcia-Piñero

J Clin Endocrinol Metab· February 2010

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