Holoprosencephaly
Dubourg, Christèle, Bendavid, Claude, Pasquier, Laurent, Henry, Catherine, Odent, Sylvie, David, Véronique
Published in Orphanet journal of rare diseases (02.02.2007)
Published in Orphanet journal of rare diseases (02.02.2007)
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Journal Article
Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein
Kim, Artem, Le Douce, Jérôme, Diab, Farah, Ferovova, Monika, Dubourg, Christèle, Odent, Sylvie, Dupé, Valérie, David, Véronique, Diambra, Luis, Watrin, Erwan, de Tayrac, Marie
Published in Brain (London, England : 1878) (01.07.2020)
Published in Brain (London, England : 1878) (01.07.2020)
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Journal Article
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
Chassaing, Nicolas, Davis, Erica E, McKnight, Kelly L, Niederriter, Adrienne R, Causse, Alexandre, David, Véronique, Desmaison, Annaïck, Lamarre, Sophie, Vincent-Delorme, Catherine, Pasquier, Laurent, Coubes, Christine, Lacombe, Didier, Rossi, Massimiliano, Dufier, Jean-Louis, Dollfus, Helene, Kaplan, Josseline, Katsanis, Nicholas, Etchevers, Heather C, Faguer, Stanislas, Calvas, Patrick
Published in Genome research (01.04.2016)
Published in Genome research (01.04.2016)
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PharmFrag: An Easy and Fast Multiplex Pharmacogenetics Assay to Simultaneously Analyze 9 Genetic Polymorphisms Involved in Response Variability of Anticancer Drugs
Bouvet, Régis, Verdier, Marie-Clémence, El Baroudi, Yahya, Galibert, Marie-Dominique, David, Véronique, Schutz, Sacha, Tron, Camille
Published in International journal of molecular sciences (17.12.2020)
Published in International journal of molecular sciences (17.12.2020)
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Journal Article
Analysis of genotype-phenotype correlations in human holoprosencephaly
Solomon, Benjamin D., Mercier, Sandra, Vélez, Jorge I., Pineda-Alvarez, Daniel E., Wyllie, Adrian, Zhou, Nan, Dubourg, Christèle, David, Veronique, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
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Journal Article
Variable expressivity of HJV related hemochromatosis: “Juvenile” hemochromatosis?
Hamdi-Rozé, Houda, Ben Ali, Zeineb, Ropert, Martine, Detivaud, Lénaïck, Aggoune, Samira, Simon, Dominique, Pelletier, Gilles, Deugnier, Yves, David, Véronique, Bardou-Jacquet, Edouard
Published in Blood cells, molecules, & diseases (01.02.2019)
Published in Blood cells, molecules, & diseases (01.02.2019)
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Journal Article
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway
Dubourg, Christèle, Carré, Wilfrid, Hamdi-Rozé, Houda, Mouden, Charlotte, Roume, Joëlle, Abdelmajid, Benmansour, Amram, Daniel, Baumann, Clarisse, Chassaing, Nicolas, Coubes, Christine, Faivre-Olivier, Laurence, Ginglinger, Emmanuelle, Gonzales, Marie, Levy-Mozziconacci, Annie, Lynch, Sally-Ann, Naudion, Sophie, Pasquier, Laurent, Poidvin, Amélie, Prieur, Fabienne, Sarda, Pierre, Toutain, Annick, Dupé, Valérie, Akloul, Linda, Odent, Sylvie, de Tayrac, Marie, David, Véronique
Published in Human mutation (01.12.2016)
Published in Human mutation (01.12.2016)
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Journal Article
Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth
Guyodo, Hélène, Rizzo, Aurélie, Diab, Farah, Noury, Fanny, Mironov, Svetlana, de Tayrac, Marie, David, Véronique, Odent, Sylvie, Dubourg, Christèle, Dupé, Valérie
Published in Clinical and experimental dental research (01.04.2024)
Published in Clinical and experimental dental research (01.04.2024)
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Journal Article
Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype
Détivaud, Lénaïck, Island, Marie-Laure, Jouanolle, Anne-Marie, Ropert, Martine, Bardou-Jacquet, Edouard, Le Lan, Caroline, Mosser, Annick, Leroyer, Patricia, Deugnier, Yves, David, Véronique, Brissot, Pierre, Loréal, Olivier
Published in Human mutation (01.11.2013)
Published in Human mutation (01.11.2013)
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Journal Article
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
Pineda-Alvarez, Daniel E., Dubourg, Christèle, David, Véronique, Roessler, Erich, Muenke, Maximilian
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
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Journal Article
full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism
Roessler, Erich, Lacbawan, Felicitas, Dubourg, Christèle, Paulussen, Aimee, Herbergs, Jos, Hehr, Ute, Bendavid, Claude, Zhou, Nan, Ouspenskaia, Maia, Bale, Sherri, Odent, Sylvie, David, Vèronique, Muenke, Maximilian
Published in Human mutation (01.04.2009)
Published in Human mutation (01.04.2009)
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Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease
Le Lan, Caroline, Mosser, Annick, Ropert, Martine, Detivaud, Lénaïck, Loustaud–Ratti, Véronique, Vital–Durand, Denis, Roget, Laurent, Bardou–Jacquet, Edouard, Turlin, Bruno, David, Véronique, Loréal, Olivier, Deugnier, Yves, Brissot, Pierre, Jouanolle, Anne–Marie
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2011)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2011)
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Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases
Pasquier, Laurent, Marcorelles, Pascale, Loget, Philippe, Pelluard, Fanny, Carles, Dominique, Perez, Marie-Josée, Bendavid, Claude, de La Rochebrochard, Céline, Ferry, Mathilde, David, Véronique, Odent, Sylvie, Laquerrière, Annie
Published in Acta neuropathologica (01.02.2009)
Published in Acta neuropathologica (01.02.2009)
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Journal Article
Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A Novel Mutation R124H of the Sodium/Iodide Symporter Gene and Review of Genotype-Phenotype Correlations in ITD
Szinnai, Gabor, Kosugi, Shinji, Derrien, Christèle, Lucidarme, Nadine, David, Véronique, Czernichow, Paul, Polak, Michel
Published in The journal of clinical endocrinology and metabolism (01.04.2006)
Published in The journal of clinical endocrinology and metabolism (01.04.2006)
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Journal Article
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
Vezain, Myriam, Lecuyer, Matthieu, Rubio, Marina, Dupé, Valérie, Ratié, Leslie, David, Véronique, Pasquier, Laurent, Odent, Sylvie, Coutant, Sophie, Tournier, Isabelle, Trestard, Laetitia, Adle-Biassette, Homa, Vivien, Denis, Frébourg, Thierry, Gonzalez, Bruno J, Laquerrière, Annie, Saugier-Veber, Pascale
Published in Acta neuropathologica communications (19.10.2018)
Published in Acta neuropathologica communications (19.10.2018)
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Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci
Morcel, Karine, Watrin, Tanguy, Pasquier, Laurent, Rochard, Lucie, Le Caignec, Cédric, Dubourg, Christèle, Loget, Philippe, Paniel, Bernard-Jean, Odent, Sylvie, David, Véronique, Pellerin, Isabelle, Bendavid, Claude, Guerrier, Daniel
Published in Orphanet journal of rare diseases (15.03.2011)
Published in Orphanet journal of rare diseases (15.03.2011)
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Journal Article
Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance
Milet, Jacqueline, Déhais, Valérie, Bourgain, Catherine, Jouanolle, Anne Marie, Mosser, Annick, Perrin, Michèle, Morcet, Jeff, Brissot, Pierre, David, Véronique, Deugnier, Yves, Mosser, Jean
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
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Journal Article
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Solomon, Benjamin D, Bear, Kelly A, Wyllie, Adrian, Keaton, Amelia A, Dubourg, Christele, David, Veronique, Mercier, Sandra, Odent, Sylvie, Hehr, Ute, Paulussen, Aimee, Clegg, Nancy J, Delgado, Mauricio R, Bale, Sherri J, Lacbawan, Felicitas, Ardinger, Holly H, Aylsworth, Arthur S, Bhengu, Ntombenhle Louisa, Braddock, Stephen, Brookhyser, Karen, Burton, Barbara, Gaspar, Harald, Grix, Art, Horovitz, Dafne, Kanetzke, Erin, Kayserili, Hulya, Lev, Dorit, Nikkel, Sarah M, Norton, Mary, Roberts, Richard, Saal, Howard, Schaefer, G B, Schneider, Adele, Smith, Erika K, Sowry, Ellen, Spence, M Anne, Shalev, Stavit A, Steiner, Carlos E, Thompson, Elizabeth M, Winder, Thomas L, Balog, Joan Z, Hadley, Donald W, Zhou, Nan, Pineda-Alvarez, Daniel E, Roessler, Erich, Muenke, Maximilian
Published in Journal of medical genetics (01.07.2012)
Published in Journal of medical genetics (01.07.2012)
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