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Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Published in:
Calcified Tissue International, 2024, v. 115, n. 5, p. 591, doi. 10.1007/s00223-024-01288-z
By:
- Mancini, Maxence;
- Chapurlat, Roland;
- Isidor, Bertrand;
- Desjonqueres, Marine;
- Couture, Guillaume;
- Guggenbuhl, Pascal;
- Coutant, Régis;
- El Chehadeh, Salima;
- Fradin, Mélanie;
- Frazier, Aline;
- Goldenberg, Alice;
- Guillot, Pascaline;
- Koumakis, Eugénie;
- Mehsen-Cêtre, Nadia;
- Rossi, Massimiliano;
- Schaefer, Élise;
- Sigaudy, Sabine;
- Porquet-Bordes, Valérie;
- Fontanges, Élisabeth;
- Letard, Pauline
Publication type:
Article
Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 2, p. 92, doi. 10.1002/ajmg.c.31360
By:
- COTTEREAU, EDOUARD;
- MORTEMOUSQUE, ISABELLE;
- MOIZARD, MARIE‐PIERRE;
- BÜRGLEN, LYDIE;
- LACOMBE, DIDIER;
- GILBERT‐DUSSARDIER, BRIGITTE;
- SIGAUDY, SABINE;
- BOUTE, ODILE;
- DAVID, ALBERT;
- FAIVRE, LAURENCE;
- AMIEL, JEANNE;
- ROBERTSON, ROBERT;
- RAMOS, FABIANA VIANA;
- BIETH, ERIC;
- ODENT, SYLVIE;
- DEMEER, BÉNÉDICTE;
- MATHIEU, MICHÉLE;
- GAILLARD, DOMINIQUE;
- VAN MALDERGEM, LIONEL;
- BAUJAT, GENEVIÉVE
Publication type:
Article
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2365, doi. 10.1002/ajmg.a.61359
By:
- Mouthon, Linda;
- Busa, Tiffany;
- Bretelle, Florence;
- Karmous‐Benailly, Houda;
- Missirian, Chantal;
- Philip, Nicole;
- Sigaudy, Sabine
Publication type:
Article
Prenatal findings in cardio-facio-cutaneous syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 441, doi. 10.1002/ajmg.a.37420
By:
- Templin, Ludivine;
- Baumann, Clarisse;
- Busa, Tiffany;
- Heckenroth, Hélène;
- Pouvreau, Nathalie;
- Toutain, Annick;
- Cave, Hélène;
- Verloes, Alain;
- Sigaudy, Sabine;
- Philip, Nicole
Publication type:
Article
Whole ARX gene duplication is compatible with normal intellectual development.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2324, doi. 10.1002/ajmg.a.36564
By:
- Popovici, Cornel;
- Busa, Tiffany;
- Boute, Odile;
- Thuresson, Ann‐Charlotte;
- Perret, Odile;
- Sigaudy, Sabine;
- Södergren, Tommy;
- Andrieux, Joris;
- Moncla, Anne;
- Philip, Nicole
Publication type:
Article
Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1991, doi. 10.1002/ajmg.a.36602
By:
- Mignon‐Ravix, Cécile;
- Cacciagli, Pierre;
- Choucair, Nancy;
- Popovici, Cornel;
- Missirian, Chantal;
- Milh, Mathieu;
- Mégarbané, André;
- Busa, Tiffany;
- Julia, Sophie;
- Girard, Nadine;
- Badens, Catherine;
- Sigaudy, Sabine;
- Philip, Nicole;
- Villard, Laurent
Publication type:
Article
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
By:
- Plaisancié, Julie;
- Bailleul‐Forestier, Isabelle;
- Gaston, Véronique;
- Vaysse, Fréderic;
- Lacombe, Didier;
- Holder‐Espinasse, Muriel;
- Abramowicz, Marc;
- Coubes, Christine;
- Plessis, Ghislaine;
- Faivre, Laurence;
- Demeer, Bénédicte;
- Vincent‐Delorme, Catherine;
- Dollfus, Hélène;
- Sigaudy, Sabine;
- Guillén‐Navarro, Encarna;
- Verloes, Alain;
- Jonveaux, Philippe;
- Martin‐Coignard, Dominique;
- Colin, Estelle;
- Bieth, Eric
Publication type:
Article
Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.
Published in:
Prenatal Diagnosis, 2002, v. 22, n. 7, p. 567, doi. 10.1002/pd.369
By:
- Soulier, Marie;
- Sigaudy, Sabine;
- Chau, Cécile;
- Philip, Nicole
Publication type:
Article
Relevance of Fetal Brain Magnetic Resonance Imaging Compared to Ultrasound for Detecting Cerebral Anomalies in Fetuses with Cleft Lip and/or Palate: A Cohort Study.
Published in:
Fetal Diagnosis & Therapy, 2023, v. 50, n. 1, p. 37, doi. 10.1159/000528906
By:
- Eydoux, Raphaëlle;
- Lesieur, Emmanuelle;
- Blanc, Julie;
- Girard, Nadine;
- D'ercole, Claude;
- Sigaudy, Sabine;
- Chaumoitre, Kathia;
- Bretelle, Florence
Publication type:
Article
Severe Phenotype in Patients with Large Deletions of NF1.
Published in:
Cancers, 2021, v. 13, n. 12, p. 2963, doi. 10.3390/cancers13122963
By:
- Pacot, Laurence;
- Vidaud, Dominique;
- Sabbagh, Audrey;
- Laurendeau, Ingrid;
- Briand-Suleau, Audrey;
- Coustier, Audrey;
- Maillard, Théodora;
- Barbance, Cécile;
- Morice-Picard, Fanny;
- Sigaudy, Sabine;
- Glazunova, Olga O.;
- Damaj, Lena;
- Layet, Valérie;
- Quelin, Chloé;
- Gilbert-Dussardier, Brigitte;
- Audic, Frédérique;
- Dollfus, Hélène;
- Guerrot, Anne-Marie;
- Lespinasse, James;
- Julia, Sophie
Publication type:
Article
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1051, doi. 10.1038/ejhg.2014.239
By:
- Barthélémy, Florian;
- Navarro, Claire;
- Fayek, Racha;
- Da Silva, Nathalie;
- Roll, Patrice;
- Sigaudy, Sabine;
- Oshima, Junko;
- Bonne, Gisèle;
- Papadopoulou-Legbelou, Kyriaki;
- Evangeliou, Athanasios E;
- Spilioti, Martha;
- Lemerrer, Martine;
- Wevers, Ron A;
- Morava, Eva;
- Robaglia-Schlupp, Andrée;
- Lévy, Nicolas;
- Bartoli, Marc;
- De Sandre-Giovannoli, Annachiara
Publication type:
Article
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
By:
- Hichri, Haifa;
- Stoetzel, Corinne;
- Laurier, Virginie;
- Caron, Solenne;
- Sigaudy, Sabine;
- Sarda, Pierre;
- Hamel, Christian;
- Martin-Coignard, Dominique;
- Gilles, Morin;
- Leheup, Bruno;
- Holder, Mureille;
- Kaplan, Josseline;
- Bitoun, Pierre;
- Lacombe, Didier;
- Verloes, Alain;
- Bonneau, Dominique;
- Perrin-Schmitt, Fabienne;
- Brandt, Christian;
- Besancon, Anne-Françoise;
- Mandel, Jean-Louis
Publication type:
Article
Real-world evidence in achondroplasia: considerations for a standardized data set.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w
By:
- Alanay, Yasemin;
- Mohnike, Klaus;
- Nilsson, Ola;
- Alves, Inês;
- AlSayed, Moeenaldeen;
- Appelman-Dijkstra, Natasha M.;
- Baujat, Genevieve;
- Ben-Omran, Tawfeg;
- Breyer, Sandra;
- Cormier-Daire, Valerie;
- Gregersen, Pernille Axél;
- Guillén-Navarro, Encarna;
- Högler, Wolfgang;
- Maghnie, Mohamad;
- Mukherjee, Swati;
- Cohen, Shelda;
- Pimenta, Jeanne;
- Selicorni, Angelo;
- Semler, J. Oliver;
- Sigaudy, Sabine
Publication type:
Article
Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France.
Published in:
PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0239476
By:
- Suard, Cornélie;
- Flori, Audrey;
- Paoli, Florent;
- Loundou, Anderson;
- Fouilloux, Virginie;
- Sigaudy, Sabine;
- Michel, Fabrice;
- Antomarchi, Julie;
- Moceri, Pamela;
- Paquis-Flucklinger, Véronique;
- D'Ercole, Claude;
- Bretelle, Florence
Publication type:
Article
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
Published in:
2021
By:
- Messiaen, Claude;
- Racine, Caroline;
- Khatim, Ahlem;
- Soussand, Louis;
- Odent, Sylvie;
- Lacombe, Didier;
- Manouvrier, Sylvie;
- Edery, Patrick;
- Sigaudy, Sabine;
- Geneviève, David;
- Thauvin-Robinet, Christel;
- Pasquier, Laurent;
- Petit, Florence;
- Rossi, Massimiliano;
- Willems, Marjolaine;
- Attié-Bitach, Tania;
- Roux-Levy, Pierre-Henry;
- Demougeot, Laurent;
- Slama, Lilia Ben;
- Landais, Paul
Publication type:
journal article
Acrocallosal syndrome in fetus: focus on additional brain abnormalities.
Published in:
Acta Neuropathologica, 2008, v. 115, n. 1, p. 151, doi. 10.1007/s00401-007-0249-y
By:
- Fernandez, Carla;
- Soulier, Marie;
- Coulibaly, Béma;
- Liprandi, Agnès;
- Benoit, Bernard;
- Giuliano, Fabienne;
- Sigaudy, Sabine;
- Figarella-Branger, Dominique;
- Fallet-Bianco, Catherine
Publication type:
Article
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 6, p. 520, doi. 10.1093/hmg/ddad203
By:
- Khosrowabadi, Elham;
- Mignon-Ravix, Cécile;
- Riccardi, Florence;
- Cacciagli, Pierre;
- Desnous, Béatrice;
- Sigaudy, Sabine;
- Milh, Mathieu;
- Villard, Laurent;
- Kjellén, Lena;
- Molinari, Florence
Publication type:
Article
Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Published in:
Clinical Genetics, 2020, v. 98, n. 3, p. 261, doi. 10.1111/cge.13801
By:
- Billon, Clarisse;
- Molin, Arnaud;
- Poirsier, Céline;
- Clemenson, Alix;
- Dauge, Coralie;
- Grelet, Maude;
- Sigaudy, Sabine;
- Patrier, Sophie;
- Goldenberg, Alice;
- Layet, Valérie;
- Tantau, Julia;
- Fleury, Clémence;
- Liard, Agnès;
- Diguet, Alain;
- Fritih, Radia;
- Verspyck, Eric;
- Rendu, John;
- Boutaud, Lucile;
- Tessier, Aude;
- Thomas, Sophie
Publication type:
Article
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Published in:
2019
By:
- Grelet, Maude;
- Blanck, Véronique;
- Sigaudy, Sabine;
- Philip, Nicole;
- Giuliano, Fabienne;
- Khachnaoui, Khaoula;
- Morel, Godelieve;
- Grotto, Sarah;
- Sophie, Julia;
- Poirsier, Céline;
- Lespinasse, James;
- Alric, Laurent;
- Calvas, Patrick;
- Chalhoub, Gihane;
- Layet, Valérie;
- Molin, Arnaud;
- Colson, Cindy;
- Marsili, Luisa;
- Edery, Patrick;
- Lévy, Nicolas
Publication type:
journal article
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 713, doi. 10.1007/s10545-016-9945-x
By:
- Morava, Eva;
- Tiemes, Vera;
- Thiel, Christian;
- Seta, Nathalie;
- Lonlay, Pascale;
- Klerk, Hans;
- Mulder, Margot;
- Rubio-Gozalbo, Estela;
- Visser, Gepke;
- Hasselt, Peter;
- Horovitz, Dafne;
- Souza, Carolina;
- Schwartz, Ida;
- Green, Andrew;
- Al-Owain, Mohammed;
- Uziel, Graciella;
- Sigaudy, Sabine;
- Chabrol, Brigitte;
- Spronsen, Franc-Jan;
- Steinert, Martin
Publication type:
Article
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Published in:
2016
By:
- Morava, Eva;
- Tiemes, Vera;
- Thiel, Christian;
- Seta, Nathalie;
- Lonlay, Pascale;
- Klerk, Hans;
- Mulder, Margot;
- Rubio-Gozalbo, Estela;
- Visser, Gepke;
- Hasselt, Peter;
- Horovitz, Dafne;
- Souza, Carolina;
- Schwartz, Ida;
- Green, Andrew;
- Al-Owain, Mohammed;
- Uziel, Graciella;
- Sigaudy, Sabine;
- Chabrol, Brigitte;
- Spronsen, Franc-Jan;
- Steinert, Martin
Publication type:
Erratum
Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis.
Published in:
Arthritis & Rheumatology, 2020, v. 72, n. 10, p. 1689, doi. 10.1002/art.41387
By:
- Ruault, Valentin;
- Yauy, Kevin;
- Fabre, Aurélie;
- Fradin, Mélanie;
- Van-Gils, Julien;
- Angelini, Chloé;
- Baujat, Geneviève;
- Blanchet, Patricia;
- Cuinat, Silvestre;
- Isidor, Bertrand;
- Jorgensen, Christian;
- Lacombe, Didier;
- Moutton, Sébastien;
- Odent, Sylvie;
- Sanchez, Elodie;
- Sigaudy, Sabine;
- Touitou, Isabelle;
- Willems, Marjolaine;
- Apparailly, Florence;
- Geneviève, David
Publication type:
Article
The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found?
Published in:
2019
By:
- Bosselut, Hortense;
- Panuel, Michel;
- Sigaudy, Sabine;
- Gorincour, Guillaume;
- Chaumoitre, Kathia;
- Bretelle, Florence
Publication type:
journal article
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
Published in:
2016
By:
- Busa, Tiffany;
- Legendre, Marine;
- Bauge, Marie;
- Quarello, Edwin;
- Bretelle, Florence;
- Bilan, Frederic;
- Sigaudy, Sabine;
- Gilbert‐Dussardier, Brigitte;
- Philip, Nicole
Publication type:
journal article
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 240, doi. 10.1002/humu.23924
By:
- Estrada‐Cuzcano, Alejandro;
- Etard, Christelle;
- Delvallée, Clarisse;
- Stoetzel, Corinne;
- Schaefer, Elise;
- Scheidecker, Sophie;
- Geoffroy, Véronique;
- Schneider, Aline;
- Studer, Fouzia;
- Mattioli, Francesca;
- Chennen, Kirsley;
- Sigaudy, Sabine;
- Plassard, Damien;
- Poch, Olivier;
- Piton, Amélie;
- Strahle, Uwe;
- Muller, Jean;
- Dollfus, Hélène
Publication type:
Article
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Published in:
Human Mutation, 2015, v. 36, n. 9, p. 894, doi. 10.1002/humu.22824
By:
- Brioude, Frederic;
- Netchine, Irène;
- Praz, Francoise;
- Jule, Marilyne;
- Calmel, Claire;
- Lacombe, Didier;
- Edery, Patrick;
- Catala, Martin;
- Odent, Sylvie;
- Isidor, Bertrand;
- Lyonnet, Stanislas;
- Sigaudy, Sabine;
- Leheup, Bruno;
- Audebert‐Bellanger, Séverine;
- Burglen, Lydie;
- Giuliano, Fabienne;
- Alessandri, Jean‐Luc;
- Cormier‐Daire, Valérie;
- Laffargue, Fanny;
- Blesson, Sophie
Publication type:
Article
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Published in:
Genes, 2022, v. 13, n. 7, p. 1277, doi. 10.3390/genes13071277
By:
- Abaji, Mario;
- Gorokhova, Svetlana;
- Da Silva, Nathalie;
- Busa, Tiffany;
- Grelet, Maude;
- Missirian, Chantal;
- Sigaudy, Sabine;
- Philip, Nicole;
- Leturcq, France;
- Lévy, Nicolas;
- Krahn, Martin;
- Bartoli, Marc
Publication type:
Article
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
Published in:
BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-51
By:
- Bárcena, Clea;
- Quesada, Víctor;
- De Sandre-Giovannoli, Annachiara;
- Puente, Diana A.;
- Fernández-Toral, Joaquín;
- Sigaudy, Sabine;
- Baban, Anwar;
- Lévy, Nicolas;
- Velasco, Gloria;
- López-Otín, Carlos
Publication type:
Article
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Published in:
PLoS Genetics, 2016, v. 12, n. 3, p. 1, doi. 10.1371/journal.pgen.1005894
By:
- Grampa, Valentina;
- Delous, Marion;
- Zaidan, Mohamad;
- Odye, Gweltas;
- Thomas, Sophie;
- Elkhartoufi, Nadia;
- Filhol, Emilie;
- Niel, Olivier;
- Silbermann, Flora;
- Lebreton, Corinne;
- Collardeau-Frachon, Sophie;
- Rouvet, Isabelle;
- Alessandri, Jean-Luc;
- Devisme, Louise;
- Dieux-Coeslier, Anne;
- Cordier, Marie-Pierre;
- Capri, Yline;
- Khung-Savatovsky, Suonavy;
- Sigaudy, Sabine;
- Salomon, Rémi
Publication type:
Article

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