Evidence-based Dentistry – Tipps für die Praxis. Fall 7: Seltene Erkrankungen – relevant für den Zahnarzt?

2013 / DEUTSCH

S. Feierabend, E. Hellwig, O. Frei, A. Petersen, E. Lausch, A. Wolff, U.Moog, H. Dollfus, C. Stoetzel, M. Huckert, M.-C. Manière, S. Troester, F. Clauss, A. Bloch-Zupan, S. Gerhardt-Szép.
Deutscher Ärzte-Verlag, Deutsche Zahnärztliche Zeitschrift, 2013; 67 (1).

« Liebe Kolleginnen und Kollegen, dieser Beitrag wird in seiner äusseren Form etwas von den bisherigen abweichen. Grund dafür ist das Thema: « Seltene Erkrankungen. (…) »

A possible cranio-oro-facial phenotype in Cockayne syndrome

2013 / ENGLISH
Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus and Vincent Laugel

Cockayne Syndrome CS is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies. […]

From the Transcription of Genes Involved in Ectodermal Dysplasias to the Understanding of Associated Dental Anomalies

2012 – August / ENGLISH
V. Laugel-Haushalter, A. Langer, J. Marrie, V. Fraulob, B. Schuhbaur, M. Koch-Phillips, P. Dollé, A. Bloch-Zupan

Orodental anomalies are one aspect of rare diseases and are increasingly identified as diagnostic and predictive traits. To understand the rationale behind gene expression during tooth or other ectodermal derivative development and the disruption of odontogenesis or hair and salivary gland formation in human syndromes we analyzed the expression patterns of a set of genes (Irf6, Nfkbia, Ercc3, Evc2, Map2k1) involved in human ectodermal dysplasias in mouse by in situ hybridization. […]

Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

2011 – December / ENGLISH
Agnès Bloch-Zupan, Xavier Jamet, Christelle Etard, Virginie Laugel, Jean Muller, Véronique Geoffroy, Jean-Pierre Strauss, Valérie Pelletier, Vincent Marion, Olivier Poch, Uwe Strahle, Corinne Stoetzel, and Helène Dollfus.

Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. Homozygosity mapping revealed a unique zone on 6q27-ter. […]

Clinical utility gene card for: hypophosphatasia

2011 / ENGLISH
Etienne Mornet, Christine Beck, Agnès Bloch-Zupan, Hermann Girschick and Martine Le Merrer

Les amélogenèses imparfaites

2010 – Octobre / FRANÇAIS
Agnès Bloch-Zupan

Parmi les anomalies dentaires, l’amélogenèse imparfaite est, dans certaines de ses formes, l’une des plus sévères et des plus difficiles à prendre en charge sur le plan esthétique et fonctionnel. […]