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Kallmann syndrome: fibroblast growth factor signaling insufficiency?
Author / Creator:Dod, Catherine ; Hardelin, Jean-Pierre
Publisher:Berlin: Springer
Journal title:Journal of molecular medicine (Berlin, Germany), 2004-11, Vol.82 (11), p.725-734
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Kallmann syndrome
Author / Creator:Dodé, Catherine ; Hardelin, Jean-Pierre
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2009-02, Vol.17 (2), p.139-146
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Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment
Author / Creator:Boehm, Ulrich ; Bouloux, Pierre-Marc ; Dattani, Mehul T ; de Roux, Nicolas ; Dodé, Catherine ; Dunkel, Leo ; Dwyer, Andrew A ; Giacobini, Paolo ; Hardelin, Jean-Pierre ; Juul, Anders ; Maghnie, Mohamad ; Pitteloud, Nelly ; Prevot, Vincent ; Raivio, Taneli ; Tena-Sempere, Manuel ; Quinton, Richard ; Young, Jacques
Publisher:England: Nature Publishing Group
Journal title:Nature reviews. Endocrinology, 2015-09, Vol.11 (9), p.547
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SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome
Author / Creator:Hanchate, Naresh Kumar ; Giacobini, Paolo ; Lhuillier, Pierre ; Parkash, Jyoti ; Espy, Cécile ; Fouveaut, Corinne ; Leroy, Chrystel ; Baron, Stéphanie ; Campagne, Céline ; Vanacker, Charlotte ; Collier, Francis ; Cruaud, Corinne ; Meyer, Vincent ; García-Piñero, Alfons ; Dewailly, Didier ; Cortet-Rudelli, Christine ; Gersak, Ksenija ; Metz, Chantal ; Chabrier, Gérard ; Pugeat, Michel ; Young, Jacques ; Hardelin, Jean-Pierre ; Prevot, Vincent ; Dodé, Catherine
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2012-08, Vol.8 (8), p.e1002896
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Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism
Author / Creator:Bouvattier, Claire ; Maione, Luigi ; Bouligand, Jérôme ; Dodé, Catherine ; Guiochon-Mantel, Anne ; Young, Jacques
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Endocrinology, 2012-03, Vol.8 (3), p.172-182
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Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2
Author / Creator:Dodé, Catherine ; Teixeira, Luis ; Levilliers, Jacqueline ; Fouveaut, Corinne ; Bouchard, Philippe ; Kottler, Marie-Laure ; Lespinasse, James ; Lienhardt-Roussie, Anne ; Mathieu, Michèle ; Moerman, Alexandre ; Morgan, Graeme ; Murat, Arnaud ; Toublanc, Jean-Edmont ; Wolczynski, Slawomir ; Delpech, Marc ; Petit, Christine ; Young, Jacques ; Hardelin, Jean-Pierre
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2006-10, Vol.2 (10), p.e175
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Impaired FGF signaling contributes to cleft lip and palate
Author / Creator:Riley, Bridget M ; Mansilla, M. Adela ; Ma, Jinghong ; Daack-Hirsch, Sandra ; Maher, Brion S ; Raffensperger, Lisa M ; Russo, Erilynn T ; Vieira, Alexandre R ; Dodé, Catherine ; Mohammadi, Moosa ; Marazita, Mary L ; Murray, Jeffrey C
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2007-03, Vol.104 (11), p.4512-4517
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First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome
Author / Creator:Hugon-Rodin, Justine ; Sonigo, Charlotte ; Gompel, Anne ; Dodé, Catherine ; Grynberg, Michael ; Binart, Nadine ; Beau, Isabelle
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2017-04, Vol.18 (1), p.44-6, Article 44
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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions
Author / Creator:Teixeira, Luis ; Guimiot, Fabien ; Dodé, Catherine ; Fallet-Bianco, Catherine ; Millar, Robert P. ; Delezoide, Anne-Lise ; Hardelin, Jean-Pierre
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2010-10, Vol.120 (10), p.3668-3672
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Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency
Author / Creator:Eskenazi, Sarah ; Bachelot, Anne ; Hugon-Rodin, Justine ; Plu-Bureau, Genevieve ; Gompel, Anne ; Catteau-Jonard, Sophie ; Molina-Gomes, Denise ; Dewailly, Didier ; Dodé, Catherine ; Christin-Maitre, Sophie ; Touraine, Philippe
Publisher:US: Oxford University Press
Journal title:Journal of the Endocrine Society, 2021-07, Vol.5 (7), p.bvab032
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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
Author / Creator:Dodé, Catherine ; Levilliers, Jacqueline ; Dupont, Jean-Michel ; De Paepe, Anne ; Le Dû, Nathalie ; Soussi-Yanicostas, Nadia ; Coimbra, Roney S. ; Delmaghani, Sedigheh ; Compain-Nouaille, Sylvie ; Baverel, Françoise ; Pêcheux, Christophe ; Le Tessier, Dominique ; Cruaud, Corinne ; Delpech, Marc ; Speleman, Frank ; Vermeulen, Stefan ; Amalfitano, Andrea ; Bachelot, Yvan ; Bouchard, Philippe ; Cabrol, Sylvie ; Carel, Jean-Claude ; Delemarre-van de Waal, Henriette ; Goulet-Salmon, Barbara ; Kottler, Marie-Laure ; Richard, Odile ; Sanchez-Franco, Franco ; Saura, Robert ; Young, Jacques ; Petit, Christine ; Hardelin, Jean-Pierre
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2003-04, Vol.33 (4), p.463-465
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Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders
Author / Creator:Jéru, Isabelle ; Charmion, Serge ; Cochet, Emmanuelle ; Copin, Bruno ; Duquesnoy, Philippe ; Garcia, Maria Teresa Mitjavila ; Le Borgne, Gaëlle ; Cathebras, Pascal ; Gaillat, Jacques ; Karabina, Sonia ; Dodé, Catherine ; Lohse, Peter ; Hentgen, Véronique ; Amselem, Serge
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-07, Vol.8 (7), p.e69757
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Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)
Author / Creator:Albuisson, Juliette ; Pêcheux, Chistophe ; Carel, Jean-Claude ; Lacombe, Didier ; Leheup, Bruno ; Lapuzina, Pablo ; Bouchard, Philippe ; Legius, Eric ; Matthijs, Gert ; Wasniewska, Malgorzata ; Delpech, Marc ; Young, Jacques ; Hardelin, Jean-Pierre ; Dodé, Catherine
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-01, Vol.25 (1), p.98-99
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Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis
Author / Creator:Dodé, Catherine ; Fouveaut, Corinne ; Mortier, Geert ; Janssens, Sandra ; Bertherat, Jérôme ; Mahoudeau, Jacques ; Kottler, Marie-Laure ; Chabrolle, Christine ; Gancel, Antoine ; François, Inge ; Devriendt, Koen ; Wolczynski, Slawomir ; Pugeat, Michel ; Pineiro-Garcia, Alfons ; Murat, Arnaud ; Bouchard, Philippe ; Young, Jacques ; Delpech, Marc ; Hardelin, Jean-Pierre
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-01, Vol.28 (1), p.97-98
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European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
Author / Creator:Boehm, Ulrich ; Bouloux, Pierre-Marc ; Dattani, Mehul T. ; de Roux, Nicolas ; Dodé, Catherine ; Dunkel, Leo ; Dwyer, Andrew A. ; Giacobini, Paolo ; Hardelin, Jean-Pierre ; Juul, Anders ; Maghnie, Mohamad ; Pitteloud, Nelly ; Prevot, Vincent ; Raivio, Taneli ; Tena-Sempere, Manuel ; Quinton, Richard ; Young, Jacques
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Endocrinology, 2015-09, Vol.11 (9), p.547-564
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Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome
Author / Creator:Leroy, Chrystel ; Fouveaut, Corinne ; Leclercq, Sandrine ; Jacquemont, Sébastien ; Boullay, Hélène Du ; Lespinasse, James ; Delpech, Marc ; Dupont, Jean-Michel ; Hardelin, Jean-Pierre ; Dodé, Catherine
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.865-868
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Next-generation sequencing of patients with congenital anosmia
Author / Creator:Alkelai, Anna ; Olender, Tsviya ; Dode, Catherine ; Shushan, Sagit ; Tatarskyy, Pavel ; Furman-Haran, Edna ; Boyko, Valery ; Gross-Isseroff, Ruth ; Halvorsen, Matthew ; Greenbaum, Lior ; Milgrom, Roni ; Yamada, Kazuya ; Haneishi, Ayumi ; Blau, Ilan ; Lancet, Doron
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-12, Vol.25 (12), p.1377-1387
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MON-224 Congenital Hypogonadotropic Hypogonadism: Features and Genetics of 60 Females Patients
Author / Creator:Fasciglione, Elsa ; Dode, Catherine ; Courtillot, Carine ; Touraine, Philippe
Publisher:Washington, DC: Endocrine Society
Journal title:Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)
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Infevers: An evolving mutation database for auto-inflammatory syndromes
Author / Creator:Touitou, Isabelle ; Lesage, Suzanne ; McDermott, Michael ; Cuisset, Laurence ; Hoffman, Hal ; Dode, Catherine ; Shoham, Nitza ; Aganna, Ebun ; Hugot, Jean-Pierre ; Wise, Carol ; Waterham, Hans ; Pugnere, Denis ; Demaille, Jacques ; de Menthiere, Cyril Sarrauste
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-09, Vol.24 (3), p.194-198
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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes
Author / Creator:Vasson, Aurélie ; Leroux, Céline ; Orhant, Lucie ; Boimard, Mathieu ; Toussaint, Aurélie ; Leroy, Chrystel ; Commere, Virginie ; Ghiotti, Tiffany ; Deburgrave, Nathalie ; Saillour, Yoann ; Atlan, Isabelle ; Fouveaut, Corinne ; Beldjord, Cherif ; Valleix, Sophie ; Leturcq, France ; Dodé, Catherine ; Bienvenu, Thierry ; Chelly, Jamel ; Cossée, Mireille
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-09, Vol.21 (9), p.977-987
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Showing 1 to 20 of 32 results

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Kallmann syndrome: fibroblast growth factor signaling insufficiency?

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Kallmann syndrome

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Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

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SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

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Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

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Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

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Impaired FGF signaling contributes to cleft lip and palate

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First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome

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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

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Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

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Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders

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Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

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Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

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European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

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Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

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Next-generation sequencing of patients with congenital anosmia

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MON-224 Congenital Hypogonadotropic Hypogonadism: Features and Genetics of 60 Females Patients

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Infevers: An evolving mutation database for auto-inflammatory syndromes

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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

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