Agnès BLOCH-ZUPAN

Publications

• 2015

  • Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

    • Mathilde Huckert
    • Corinne Stoetzel
    • Supawich Morkmued
    • Virginie Laugel-Haushalter
    • Véronique Geoffroy
    • Jean Muller
    • François Clauss
    • Megana Prasad
    • Frédéric Obry
    • Jean Louis Raymond
    • Marzena Switala
    • Yves Alembik
    • Sylvie Soskin
    • Eric Mathieu
    • Joseph Hemmerlé
    • Jean-Luc Weickert
    • Branka Brukner Dabovic
    • Daniel Rifkin
    • Annelies Dheedene
    • Eveline Boudin
    • ...

    Human Molecular Genetics ; Volume: 24 ; Page: 3038-3049

    HAL DOI

  • Phenotypic and evolutionary implications of modulating the ERK-MAPK cascade using the dentition as a model

    • Pauline Marangoni
    • Cyril Charles
    • Paul Tafforeau
    • Virginie Laugel-Haushalter
    • Adriane Joo
    • Agnes Bloch-Zupan
    • Ophir D. Klein
    • Laurent Viriot

    Scientific Reports ; Volume: 5 ; Page: 12 p.

    HAL DOI

• 2014

  • MSX2 Gene Duplication in a Patient with Eye Development Defects.

    • Julie Plaisancié
    • Corinne Collet
    • Valerie Pelletier
    • Yaumara Perdomo
    • Fouzia Studer
    • Melanie Fradin
    • Elise Schaefer
    • Claude Speeg-Schatz
    • Agnès Bloch-Zupan
    • Elisabeth Flori
    • Helene Dollfus

    Ophthalmic genetics ; Volume: 36 ; Page: 353-358

    HAL DOI

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

    • Mathilde Huckert
    • Helen Mecili
    • Virginie Laugel-Haushalter
    • Corinne Stoetzel
    • Jean Muller
    • Elisabeth Flori
    • Vincent Laugel
    • Marie-Cécile Maniere
    • Hélène Dollfus
    • Agnès Bloch-Zupan

    Molecular Syndromology ; Volume: 5 ; Page: 293--298

    HAL DOI

  • RSK2 is a modulator of craniofacial development.

    • Virginie Laugel-Haushalter
    • Marie Paschaki
    • Pauline Marangoni
    • Coralie Pilgram
    • Arnaud Langer
    • Thibaut Kuntz
    • Julie Demassue
    • Supawich Morkmued
    • Philippe Choquet
    • André Constantinesco
    • Fabien Bornert
    • Mathieu Schmittbuhl
    • Solange Pannetier
    • Laurent Viriot
    • Andre Hanauer
    • Pascal Dollé
    • Agnès Bloch-Zupan

    PLoS ONE ; Volume: 9 ; Page: e84343

    HAL DOI

  • Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

    • Muriel de La Dure-Molla
    • Mickaël Quentric
    • Paulo Marcio Yamaguti
    • Ana Carolina Acevedo
    • Alan J. Mighell
    • Miikka Vikkula
    • Mathilde Huckert
    • Ariane Berdal
    • Agnès Bloch-Zupan

    Orphanet Journal of Rare Diseases ; Volume: 9 ; Page: 84

    HAL DOI

• 2013

  • Clinical utility gene card for: Hypophosphatasia – update 2013

    • Etienne Mornet
    • Christine Hofmann
    • Agnès Bloch-Zupan
    • Hermann Girschick
    • Martine Le Merrer

    European Journal of Human Genetics ; Volume: 22 ; Page: 572-572

    HAL DOI

  • Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta

    • B. Gasse
    • E. Karayigit
    • E. Mathieu
    • S. Jung
    • A. Garret
    • M. Huckert
    • S. Morkmued
    • C. Schneider
    • L. Vidal
    • J. Hemmerle
    • J. -Y. Sire
    • A. Bloch-Zupan

    Journal of Dental Research ; Volume: 92 ; Page: 598-603

    HAL DOI

  • Case report: Macrodont mandibular second premolars, a hereditary dental anomaly

    • A. Kyriazidou
    • D. Haider
    • C. Mason
    • S. Parekh
    • Agnès Bloch-Zupan

    European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry ; Volume: 14 ; Page: 411-416

    HAL DOI

  • A possible cranio-oro-facial phenotype in Cockayne syndrome.

    • Agnès Bloch-Zupan
    • Morgan Rousseaux
    • Virginie Laugel
    • Matthieu Schmittbuhl
    • Rémy Mathis
    • Emmanuelle Desforges
    • Mériam Koob
    • Ariane Zaloszyc
    • Hélène Dollfus
    • Vincent Laugel

    Orphanet Journal of Rare Diseases ; Volume: 8 ; Page: 9

    HAL DOI