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ArticlesPeer ReviewedFull Text
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
Author / Creator:Boissel, Sarah ; Fallet-Bianco, Catherine ; Chitayat, David ; Kremer, Valérie ; Nassif, Christina ; Rypens, Françoise ; Delrue, Marie-Ange ; Dal Soglio, Dorothée ; Oligny, Luc L. ; Patey, Natalie ; Flori, Elisabeth ; Cloutier, Mireille ; Dyment, David ; Campeau, Philippe ; Karalis, Aspasia ; Nizard, Sonia ; Fraser, William D. ; Audibert, François ; Lemyre, Emmanuelle ; Rouleau, Guy A. ; Hamdan, Fadi F. ; Kibar, Zoha ; Michaud, Jacques L.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2018-07, Vol.20 (7), p.745-753
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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation
Author / Creator:Marion, Vincent ; Stoetzel, Corinne ; Schlicht, Dominique ; Messaddeq, Nadia ; Koch, Michael ; Flori, Elisabeth ; Danse, Jean Marc ; Mandel, Jean-Louis ; Dollfus, Hélène
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2009-02, Vol.106 (6), p.1820-1825
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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
Author / Creator:Mary, Laura ; Piton, Amélie ; Schaefer, Elise ; Mattioli, Francesca ; Nourisson, Elsa ; Feger, Claire ; Redin, Claire ; Barth, Magali ; El Chehadeh, Salima ; Colin, Estelle ; Coubes, Christine ; Faivre, Laurence ; Flori, Elisabeth ; Geneviève, David ; Capri, Yline ; Perrin, Laurence ; Fabre-Teste, Jennifer ; Timbolschi, Dana ; Verloes, Alain ; Olaso, Robert ; Boland, Anne ; Deleuze, Jean-François ; Mandel, Jean-Louis ; Gerard, Bénédicte ; Giurgea, Irina
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-07, Vol.26 (7), p.996-1006
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Genetic Compensation in a Human Genomic Disorder
Author / Creator:Carelle-Calmels, Nadège ; Saugier-Veber, Pascale ; Girard-Lemaire, Françoise ; Rudolf, Gabrielle ; Doray, Bérénice ; Guérin, Eric ; Kuhn, Pierre ; Arrivé, Mathilde ; Gilch, Catherine ; Schmitt, Evelyne ; Fehrenbach, Séverine ; Schnebelen, Albert ; Frébourg, Thierry ; Flori, Elisabeth
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2009-03, Vol.360 (12), p.1211-1216
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Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes
Author / Creator:Flori, Elisabeth ; Biancalana, Valérie ; Girard-Lemaire, Françoise ; Favre, Romain ; Flori, Jean ; Doray, Bérénice ; Louis Mandel, Jean
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2004-03, Vol.12 (3), p.181-186
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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Author / Creator:Redin, Claire ; Gérard, Bénédicte ; Lauer, Julia ; Herenger, Yvan ; Muller, Jean ; Quartier, Angélique ; Masurel-Paulet, Alice ; Willems, Marjolaine ; Lesca, Gaétan ; El-Chehadeh, Salima ; Le Gras, Stéphanie ; Vicaire, Serge ; Philipps, Muriel ; Dumas, Michaël ; Geoffroy, Véronique ; Feger, Claire ; Haumesser, Nicolas ; Alembik, Yves ; Barth, Magalie ; Bonneau, Dominique ; Colin, Estelle ; Dollfus, Hélène ; Doray, Bérénice ; Delrue, Marie-Ange ; Drouin-Garraud, Valérie ; Flori, Elisabeth ; Fradin, Mélanie ; Francannet, Christine ; Goldenberg, Alice ; Lumbroso, Serge ; Mathieu-Dramard, Michèle ; Martin-Coignard, Dominique ; Lacombe, Didier ; Morin, Gilles ; Polge, Anne ; Sukno, Sylvie ; Thauvin-Robinet, Christel ; Thevenon, Julien ; Doco-Fenzy, Martine ; Genevieve, David ; Sarda, Pierre ; Edery, Patrick ; Isidor, Bertrand ; Jost, Bernard ; Olivier-Faivre, Laurence ; Mandel, Jean-Louis ; Piton, Amélie
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-11, Vol.51 (11), p.724-736
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Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Author / Creator:Scheidecker, Sophie ; Etard, Christelle ; Pierce, Nathan W ; Geoffroy, Véronique ; Schaefer, Elise ; Muller, Jean ; Chennen, Kirsley ; Flori, Elisabeth ; Pelletier, Valérie ; Poch, Olivier ; Marion, Vincent ; Stoetzel, Corinne ; Strähle, Uwe ; Nachury, Maxence V ; Dollfus, Hélène
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-02, Vol.51 (2), p.132-136
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ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation
Author / Creator:Le Goff, Carine ; Morice-Picard, Fanny ; Dagoneau, Nathalie ; Wang, Lauren W ; Perrot, Claire ; Crow, Yanick J ; Bauer, Florence ; Flori, Elisabeth ; Prost-Squarcioni, Catherine ; Krakow, Deborah ; Ge, Gaoxiang ; Greenspan, Daniel S ; Bonnet, Damien ; Le Merrer, Martine ; Munnich, Arnold ; Apte, Suneel S ; Cormier-Daire, Valérie
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-09, Vol.40 (9), p.1119-1123
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Clinical utility gene card for: Arterial tortuosity syndrome
Author / Creator:Albuisson, Juliette ; Moceri, Pamela ; Flori, Elisabeth ; Belli, Emre ; Gronier, Céline ; Jeunemaitre, Xavier
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1432-1432
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Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3
Author / Creator:Basile, Geneviève de Saint ; Geissmann, Frédéric ; Flori, Elisabeth ; Uring-Lambert, Béatrice ; Soudais, Claire ; Cavazzana-Calvo, Marina ; Durandy, Anne ; Jabado, Nada ; Fischer, Alain ; Deist, Françoise Le
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2004-11, Vol.114 (10), p.1512-1517
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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Author / Creator:Huckert, Mathilde ; Mecili, Helen ; Laugel-Haushalter, Virginie ; Stoetzel, Corinne ; Muller, Jean ; Flori, Elisabeth ; Laugel, Vincent ; Manière, Marie-Cécile ; Dollfus, Hélène ; Bloch-Zupan, Agnès
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Molecular syndromology, 2014-12, Vol.5 (6), p.293-298
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Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009
Author / Creator:Timbolschi, Dana ; Schaefer, Elise ; Monga, Bondo ; Fattori, Delphine ; Dott, Béatrice ; Favre, Romain ; Kohler, Monique ; Nisand, Israël ; Viville, Brigitte ; Astruc, Dominique ; Kehrli, Pierre ; Gasser, Bernard ; Lindner, Véronique ; Marcellin, Luc ; Flori, Elisabeth ; Girard-Lemaire, Françoise ; Dollfus, Hélène ; Doray, Bérénice
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Fetal diagnosis and therapy, 2015-01, Vol.37 (1), p.6-17
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A Novel Mutation in the \textbf\textitROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Author / Creator:Huckert, Mathilde ; Mecili, Helen ; Laugel-Haushalter, Virginie ; Stoetzel, Corinne ; Muller, Jean ; Flori, Elisabeth ; Laugel, Vincent ; Maniere, Marie-Cécile ; Dollfus, Hélène ; Bloch-Zupan, Agnès
Publisher:Karger
Journal title:Molecular syndromology, 2014, Vol.5 (6), p.293-298
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Genetic Compensation in a Human Genomic DisorderBrief Report
Author / Creator:Carelle-Calmels, Nadège ; Saugier-Veber, Pascale ; Girard-Lemaire, Françoise ; Rudolf, Gabrielle ; Doray, Bérénice ; Guérin, Eric ; Kuhn, Pierre ; Arrivé, Mathilde ; Gilch, Catherine ; Schmitt, Evelyne ; Fehrenbach, Séverine ; Schnebelen, Albert ; Frébourg, Thierry ; Flori, Elisabeth
Publisher:Boston: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2009-03, Vol.360 (12), p.1211
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Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome
Author / Creator:Flori, Elisabeth ; Girodon, Emmanuelle ; Samama, Brigitte ; Becmeur, François ; Viville, Brigitte ; Girard-Lemaire, Françoise ; Doray, Bérénice ; Schluth, Caroline ; Marcellin, Luc ; Boehm, Nelly ; Goossens, Michel ; Pingault, Véronique
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-09, Vol.13 (9), p.1013-1018
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ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-[beta] bioavailability regulation
Author / Creator:Le Goff, Carine ; Morice-Picard, Fanny ; Dagoneau, Nathalie ; Wang, Lauren W ; Perrot, Claire ; Crow, Yanick J ; Bauer, Florence ; Flori, Elisabeth ; Prost-Squarcioni, Catherine ; Krakow, Deborah ; Ge, Gaoxiang ; Greenspan, Daniel S ; Bonnet, Damien ; Le Merrer, Martine ; Munnich, Arnold ; Apte, Suneel S ; Cormier-Daire, Valérie
Publisher:New York: Nature Publishing Group
Journal title:Nature genetics, 2008-09, Vol.40 (9), p.1119-1123
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Severe combined immunodeficiency caused by deficiency in either the [delta] or the [epsilon] subunit of CD3
Author / Creator:Geneviève de Saint Basile ; Geissmann, Frédéric ; Flori, Elisabeth ; Uring-Lambert, Béatrice
Publisher:Ann Arbor: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2004-11, Vol.114 (10), p.1512
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Three New BLM Gene Mutations Associated with Bloom Syndrome
Author / Creator:Amor-Guéret, Mounira ; Dubois-d'Enghien, Catherine ; Laugé, Anthony ; Onclercq-Delic, Rosine ; Barakat, Abdelhamid ; Chadli, Elbekkay ; Bousfiha, Ahmed Aziz ; Benjelloun, Meriem ; Flori, Elisabeth ; Doray, Bérénice ; Laugel, Vincent ; Lourenço, Maria Teresa ; Gonçalves, Rui ; Sousa, Silvia ; Couturier, Jérôme ; Stoppa-Lyonnet, Dominique
Publisher:United States: Mary Ann Liebert, Inc
Journal title:Genetic testing, 2008-06, Vol.12 (2), p.257-261
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Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly
Author / Creator:Kim, Artem ; Savary, Clara ; Dubourg, Christele ; Carre, Wilfrid ; Mouden, Charlotte ; Hamdi-Roze, Houda ; Guyodo, Helene ; Jerome Le Douce ; Pasquier, Laurent ; Flori, Elisabeth ; Gonzales, Marie ; Beneteau, Claire ; Boute, Odile ; Attie-Bitach, Tania ; Roume, Joelle ; Goujon, Louise ; Akloul, Linda ; Watrin, Erwan ; Dupe, Valerie ; Odent, Sylvie ; De Tayrac, Marie ; Veronique, David
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-05
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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

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Genetic Compensation in a Human Genomic Disorder

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Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

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ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

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Clinical utility gene card for: Arterial tortuosity syndrome

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Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3

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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

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Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

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A Novel Mutation in the \textbf\textitROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

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Genetic Compensation in a Human Genomic DisorderBrief Report

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Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome

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ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-[beta] bioavailability regulation

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Severe combined immunodeficiency caused by deficiency in either the [delta] or the [epsilon] subunit of CD3

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Three New BLM Gene Mutations Associated with Bloom Syndrome

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Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

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