Agnès BLOCH-ZUPAN

Publications

• 2019

  • Article in a journal

    Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.

    • Anne Molitor
    • Tony Prud'Homme
    • Zhichao Miao
    • Solène Conrad
    • Agnès Bloch-Zupan
    • Angelique Pichot
    • Antoine Hanauer
    • Bertrand Isidor
    • Seiamak Bahram
    • Raphael Carapito

    Journal of Human Genetics

    HAL DOI

  • Article in a journal

    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

    • Anika Wehrle
    • Tomasz M Witkos
    • Sheila Unger
    • Judith Schneider
    • John A Follit
    • Johannes Hermann
    • Tim Welting
    • Virginia Fano
    • Marja Hietala
    • Nithiwat Vatanavicharn
    • Katharina Schoner
    • Jürgen Spranger
    • Miriam Schmidts
    • Bernhard Zabel
    • Gregory J Pazour
    • Agnès Bloch-Zupan
    • Gen Nishimura
    • Andrea Superti-Furga
    • Martin Lowe
    • Ekkehart Lausch

    JCI Insight ; Volume: 4 ; Page: e124701

    HAL DOI

  • Article in a journal

    Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

    • Tristan Rey
    • Julien Tarabeux
    • Bénédicte Gerard
    • Marion Delbarre
    • Antony Le Béchec
    • Corinne Stoetzel
    • Megana Prasad
    • Virginie Laugel-Haushalter
    • Marzena Kawczynski
    • Jean Muller
    • Jamel Chelly
    • Hélène Dollfus
    • Marie-Cécile Maniere
    • Agnès Bloch-Zupan

    Methods in Molecular Biology ; Volume: 1922

    HAL DOI

  • Article in a journal

    A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

    • Virginie Laugel-Haushalter
    • Séverine Bär
    • Elise Schaefer
    • Corinne Stoetzel
    • Véronique Geoffroy
    • Yves Alembik
    • Naji Kharouf
    • Mathilde Huckert
    • Pauline Hamm
    • Joseph Hemmerlé
    • Marie-Cécile Maniere
    • Sylvie Friant
    • Hélène Dollfus
    • Agnès Bloch-Zupan

    Frontiers in Genetics ; Volume: 10 ; Page: 504

    HAL DOI

• 2018

  • Article in a journal

    Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

    • Virginie Haushalter
    • Supawich Morkmued
    • Corinne Stoetzel
    • Véronique Geoffroy
    • Jean Muller
    • Anne Boland
    • Jean-François Deleuze
    • Kirsley Chennen
    • Waranuch Pitiphat
    • Helene Dollfus
    • Karen Niederreither
    • Agnès Bloch-Zupan
    • Patimaporn Pungchanchaikul

    Frontiers in Physiology ; Volume: 9 ; Page: 1329

    HAL DOI

  • Article in a journal

    Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

    • Jane Hejlesen
    • Line Underbjerg
    • Hans Gjørup
    • Agnès Bloch-Zupan
    • Tanja Sikjaer
    • Lars Rejnmark
    • Dorte Haubek

    Frontiers in Physiology ; Volume: 9 ; Page: 701

    HAL DOI

• 2017

  • Article in a journal

    Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study

    • C. Tardieu
    • S. Jung
    • K. Niederreither
    • M. Prasad
    • S. Hadj-Rabia
    • Nicole Philip
    • A. Mallet
    • E. Consolino
    • E. Sfeir
    • B. Noueiri
    • N. Chassaing
    • H. Dollfus
    • M. C. Maniere
    • A. Bloch-Zupan
    • F. Clauss

    Clinical Genetics ; Volume: 92 ; Page: 477-486

    HAL DOI

  • Article in a journal

    Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice.

    • Supawich Morkmued
    • Joseph Hemmerle
    • Eric Mathieu
    • Virginie Haushalter
    • Branka Dabovic
    • Daniel B Rifkin
    • Pascal Dolle
    • Karen Niederreither
    • Agnès Bloch-Zupan

    European journal of oral sciences ; Volume: 125 ; Page: 8-17

    HAL DOI

  • Article in a journal

    Hypophosphatasie : atteintes buccale et dentaire [Hypophosphatasia: oral cavity and dental disorders]

    • Agnès Bloch
    • Frédéric Vaysse

    Archives de Pédiatrie ; Volume: 24 ; Page: 5S80-5S84

    HAL DOI

  • Article in a journal

    Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta

    • Barbara Gasse
    • Megana Prasad
    • Sidney Delgado
    • Mathilde Huckert
    • Marzena Kawczynski
    • Annelyse Garret-Bernardin
    • Serena Lopez-Cazaux
    • Isabelle Bailleul-Forestier
    • Marie-Cécile Manière
    • Corinne Stoetzel
    • Agnès Bloch-Zupan
    • Jean-Yves Sire

    Frontiers in Physiology ; Volume: 8 ; Page: 398

    HAL DOI