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A possible cranio-oro-facial phenotype in Cockayne syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-9
By:
- Bloch-Zupan, Agnès;
- Rousseaux, Morgan;
- Laugel, Virginie;
- Schmittbuhl, Matthieu;
- Mathis, Rémy;
- Desforges, Emmanuelle;
- Koob, Mériam;
- Zaloszyc, Ariane;
- Dollfus, Hélène;
- Laugel, Vincent
Publication type:
Article
A possible cranio-oro-facial phenotype in Cockayne syndrome.
Published in:
2013
By:
- Bloch-Zupan, Agnès;
- Rousseaux, Morgan;
- Laugel, Virginie;
- Schmittbuhl, Matthieu;
- Mathis, Rémy;
- Desforges, Emmanuelle;
- Koob, Mériam;
- Zaloszyc, Ariane;
- Dollfus, Hélène;
- Laugel, Vincent
Publication type:
journal article
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.
Published in:
Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-6
By:
- Reibel, Amélie;
- Manière, Marie-Cécile;
- Clauss, François;
- Droz, Dominique;
- Alembik, Yves;
- Mornet, Etienne;
- Bloch-Zupan, Agnès
Publication type:
Article
Otodental syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2006, v. 1, p. 5, doi. 10.1186/1750-1172-1-5
By:
- Bloch-Zupan, Agnès;
- Goodman, Jane R.
Publication type:
Article
COVID-19 and Dentistry in 72 Questions: An Overview of the Literature.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 779, doi. 10.3390/jcm10040779
By:
- Derruau, Stéphane;
- Bouchet, Jérôme;
- Nassif, Ali;
- Baudet, Alexandre;
- Yasukawa, Kazutoyo;
- Lorimier, Sandrine;
- Prêcheur, Isabelle;
- Bloch-Zupan, Agnès;
- Pellat, Bernard;
- Chardin, Hélène;
- Jung, Sophie;
- Howaldt, Hans-Peter
Publication type:
Article
La dent : un marqueur d'anomalies génétiques du développement.
Published in:
Médecine Sciences, 2024, v. 40, n. 1, p. 16, doi. 10.1051/medsci/2023190
By:
- de La Dure-Molla, Muriel;
- Gaucher, Céline;
- Dupré, Nicolas;
- Bloch Zupan, Agnès;
- Berdal, Ariane;
- Chaussain, Catherine
Publication type:
Article
Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective.
Published in:
International Journal of Paediatric Dentistry, 2016, v. 26, n. 6, p. 426, doi. 10.1111/ipd.12232
By:
- Bloch‐Zupan, Agnès
Publication type:
Article
RSK2 Is a Modulator of Craniofacial Development.
Published in:
PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084343
By:
- Laugel-Haushalter, Virginie;
- Paschaki, Marie;
- Marangoni, Pauline;
- Pilgram, Coralie;
- Langer, Arnaud;
- Kuntz, Thibaut;
- Demassue, Julie;
- Morkmued, Supawich;
- Choquet, Philippe;
- Constantinesco, André;
- Bornert, Fabien;
- Schmittbuhl, Matthieu;
- Pannetier, Solange;
- Viriot, Laurent;
- Hanauer, André;
- Dollé, Pascal;
- Bloch-Zupan, Agnès
Publication type:
Article
Clinical utility gene card for: Hypophosphatasia - update 2013.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.177
By:
- Mornet, Etienne;
- Hofmann, Christine;
- Bloch-Zupan, Agnès;
- Girschick, Hermann;
- Le Merrer, Martine
Publication type:
Article
Clinical utility gene card for: hypophosphatasia.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.170
By:
- Mornet, Etienne;
- Beck, Christine;
- Bloch-Zupan, Agnès;
- Girschick, Hermann;
- Le Merrer, Martine
Publication type:
Article
SIXTH INTERNATIONAL ALKALINE PHOSPHATASE and HYPOPHOSPHATASIA SYMPOSIUM.
Published in:
Bulletin du Girso, 2012, v. 51, n. 1, p. e1
By:
- Millán, José Luis;
- Ursprung, Steve;
- Bloch-Zupan, Agnès;
- Mornet, Etienne
Publication type:
Article
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00504
By:
- Laugel-Haushalter, Virginie;
- Bär, Séverine;
- Schaefer, Elise;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Alembik, Yves;
- Kharouf, Naji;
- Huckert, Mathilde;
- Hamm, Pauline;
- Hemmerlé, Joseph;
- Manière, Marie-Cécile;
- Friant, Sylvie;
- Dollfus, Hélène;
- Bloch-Zupan, Agnès
Publication type:
Article
Retinoic Acid Excess Impairs Amelogenesis Inducing Enamel Defects.
Published in:
Frontiers in Physiology, 2017, v. 7, p. 1, doi. 10.3389/fphys.2016.00673
By:
- Morkmued, Supawich;
- Laugel-Haushalter, Virginie;
- Mathieu, Eric;
- Schuhbaur, Brigitte;
- Hemmerlé, Joseph;
- Dollé, Pascal;
- Bloch-Zupan, Agnès;
- Niederreither, Karen
Publication type:
Article
Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Published in:
2016
By:
- Bloch-Zupan, Agnès;
- Huckert, Mathilde;
- Stoetzel, Corinne;
- Meyer, Julia;
- Geoffroy, Véronique;
- Razafindrakoto, Rabisoa W.;
- Ralison, Saholy N.;
- Randrianaivo, Jean-Claude;
- Ralison, Georgette;
- Andriamasinoro, Rija O.;
- Ramanampamaharana, Rija H.;
- Randrianazary, Solofomanantsoa E.;
- Ralimanana, Louise H.;
- Richard, Béatrice;
- Gorry, Philippe;
- Manière, Marie-Cécile;
- Rasoamananjara, Jeanne A.;
- Alson, Simone Rakoto;
- Dollfus, Hélène
Publication type:
Correction Notice
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Published in:
Frontiers in Physiology, 2016, p. 1, doi. 10.3389/fphys.2016.00070
By:
- Bloch-Zupan, Agnès;
- Huckert, Mathilde;
- Stoetzel, Corinne;
- Meyer, Julia;
- Geoffroy, Véronique;
- Razafindrakoto, Rabisoa W.;
- Ralison, Saholy N.;
- Randrianaivo, Jean-Claude;
- Ralison, Georgette;
- Andriamasinoro, Rija O.;
- Ramanampamaharana, Rija H.;
- Randrianazary, Solofomanantsoa E.;
- Richard, Béatrice;
- Gorry, Philippe;
- Manière, Marie-Cécile;
- Alson, Simone Rakoto;
- Dollfus, Hélène;
- Remboutsika, Eumorphia;
- Gritli-Linde, Amel;
- Orsini, Giovanna
Publication type:
Article
Molars and incisors: show your microarray IDs.
Published in:
BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-113
By:
- Laugel-Haushalter, Virginie;
- Paschaki, Marie;
- Thibault-Carpentier, Christelle;
- Dembelé, Doulaye;
- Dollé, Pascal;
- Bloch-Zupan, Agnès
Publication type:
Article
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 206, doi. 10.1111/cge.13972
By:
- El Chehadeh, Salima;
- Legrand, Anne;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Billon, Clarisse;
- Adham, Salma;
- Jeunemaître, Xavier;
- Jaussaud, Roland;
- Muller, Jean;
- Schaefer, Elise;
- Benistan, Karelle;
- Gaertner, Sébastien;
- Bloch‐Zupan, Agnès;
- Courval, Aymeric;
- Manière, Marie‐Cécile;
- Petit, Catherine;
- Bursztejn, Anne‐Claire;
- Bal, Laurence;
- Reyre, Anthony;
- Chammas, Agathe
Publication type:
Article
Deficiency of the SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71749-6
By:
- Morkmued, Supawich;
- Clauss, François;
- Schuhbaur, Brigitte;
- Fraulob, Valérie;
- Mathieu, Eric;
- Hemmerlé, Joseph;
- Clevers, Hans;
- Koo, Bon-Kyoung;
- Dollé, Pascal;
- Bloch-Zupan, Agnès;
- Niederreither, Karen
Publication type:
Article
Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice.
Published in:
European Journal of Oral Sciences, 2017, v. 125, n. 1, p. 8, doi. 10.1111/eos.12328
By:
- Morkmued, Supawich;
- Hemmerle, Joseph;
- Mathieu, Eric;
- Laugel‐Haushalter, Virginie;
- Dabovic, Branka;
- Rifkin, Daniel B.;
- Dollé, Pascal;
- Niederreither, Karen;
- Bloch‐Zupan, Agnès
Publication type:
Article
Phenotypic and evolutionary implications of modulating the ERK-MAPK cascade using the dentition as a model.
Published in:
Scientific Reports, 2015, p. 11658, doi. 10.1038/srep11658
By:
- Marangoni, Pauline;
- Charles, Cyril;
- Tafforeau, Paul;
- Laugel-Haushalter, Virginie;
- Joo, Adriane;
- Bloch-Zupan, Agnès;
- Klein, Ophir D.;
- Viriot, Laurent
Publication type:
Article
Prevalence of tooth agenesis and supernumerary teeth related to different Thai cleft lip and cleft palate populations.
Published in:
BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-04719-3
By:
- Aung, Wai Phyo;
- Pungchanchaikul, Patimaporn;
- Pisek, Araya;
- Bloch-Zupan, Agnès;
- Morkmued, Supawich
Publication type:
Article
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 20, p. 3482
By:
- Gregory-Evans, Cheryl Y.;
- Moosajee, Mariya;
- Hodges, Matthew D.;
- Mackay, Donna S.;
- Game, Laurence;
- Vargesson, Neil;
- Bloch-Zupan, Agnès;
- Rüschendorf, Franz;
- Santos-Pinto, Lourdes;
- Wackens, Georges;
- Gregory-Evans, Kevin
Publication type:
Article
The Rogdi knockout mouse is a model for Kohlschütter–Tönz syndrome.
Published in:
Scientific Reports, 2024, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-50870-2
By:
- Jimenez-Armijo, Alexandra;
- Morkmued, Supawich;
- Ahumada, José Tomás;
- Kharouf, Naji;
- de Feraudy, Yvan;
- Gogl, Gergo;
- Riet, Fabrice;
- Niederreither, Karen;
- Laporte, Jocelyn;
- Birling, Marie Christine;
- Selloum, Mohammed;
- Herault, Yann;
- Hernandez, Magali;
- Bloch-Zupan, Agnès
Publication type:
Article
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.
Published in:
Frontiers in Physiology, 2017, p. 1, doi. 10.3389/fphys.2017.00398
By:
- Gasse, Barbara;
- Prasad, Megana;
- Delgado, Sidney;
- Huckert, Mathilde;
- Kawczynski, Marzena;
- Garret-Bernardin, Annelyse;
- Lopez-Cazaux, Serena;
- Bailleul-Forestier, Isabelle;
- Manière, Marie-Cécile;
- Stoetzel, Corinne;
- Bloch-Zupan, Agnès;
- Sire, Jean-Yves
Publication type:
Article
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
Published in:
Molecular Syndromology, 2014, v. 5, n. 6, p. 293, doi. 10.1159/000366252
By:
- Huckert, Mathilde;
- Mecili, Helen;
- Laugel-Haushalter, Virginie;
- Stoetzel, Corinne;
- Muller, Jean;
- Flori, Elisabeth;
- Laugel, Vincent;
- Manière, Marie-Cécile;
- Dollfus, Hélène;
- Bloch-Zupan, Agnès
Publication type:
Article

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