Publications by authors named "Mathilde Huckert"

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A New 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, Mathilde Huckert

Front Genet· May 2019

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Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified Mutations Causing Amelogenesis Imperfecta.
Barbara Gasse, Megana Prasad, Sidney Delgado, Mathilde Huckert, Marzena Kawczynski

Front Physiol· June 2017

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Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Agnès Bloch-Zupan, Mathilde Huckert, Corinne Stoetzel, Julia Meyer, Véronique Geoffroy

Front Physiol· July 2016

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Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Agnès Bloch-Zupan, Mathilde Huckert, Corinne Stoetzel, Julia Meyer, Véronique Geoffroy

Front Physiol· March 2016

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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

Hum Mol Genet· June 2015

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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
Mathilde Huckert, Helen Mecili, Virginie Laugel-Haushalter, Corinne Stoetzel, Jean Muller

Mol Syndromol· December 2014

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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
Muriel de la Dure-Molla, Mickael Quentric, Paulo Marcio Yamaguti, Ana-Carolina Acevedo, Alan J Mighell, Mathilde Huckert

Orphanet J Rare Dis· June 2014

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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Graciana Jaureguiberry, Muriel De la Dure-Molla, David Parry, Mickael Quentric, Nina Himmerkus, Mathilde Huckert

Nephron Physiol· October 2013

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