日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

一种新的 SLC10A7 纯合错义突变导致较轻的牙釉质形成不全性骨骼发育不良表型

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

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

进化分析预测了MMP20的敏感位点,并验证了新发现的和先前发现的导致釉质发育不全的MMP20突变

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

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

利用新一代测序技术在马达加斯加的一个群体隔离体中检测到一种新的DSPP突变

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; Rakoto Alson, Simone; Dollfus, Hélène

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

更正:利用NGS技术在马达加斯加一个群体隔离体中检测到一种新的DSPP突变

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; Rakoto Alson, Simone; Dollfus, Hélène

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

潜伏性TGF-β结合蛋白3 (LTBP3) 基因突变导致短牙症伴牙釉质发育不全

Huckert, Mathilde; Stoetzel, Corinne; Morkmued, Supawich; Laugel-Haushalter, Virginie; Geoffroy, Véronique; Muller, Jean; Clauss, François; Prasad, Megana K; Obry, Frédéric; Raymond, Jean Louis; Switala, Marzena; Alembik, Yves; Soskin, Sylvie; Mathieu, Eric; Hemmerlé, Joseph; Weickert, Jean-Luc; Dabovic, Branka Brukner; Rifkin, Daniel B; Dheedene, Annelies; Boudin, Eveline; Caluseriu, Oana; Cholette, Marie-Claude; Mcleod, Ross; Antequera, Reynaldo; Gellé, Marie-Paule; Coeuriot, Jean-Louis; Jacquelin, Louis-Frédéric; Bailleul-Forestier, Isabelle; Manière, Marie-Cécile; Van Hul, Wim; Bertola, Debora; Dollé, Pascal; Verloes, Alain; Mortier, Geert; Dollfus, Hélène; Bloch-Zupan, Agnès

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

由隐性FAM20A突变引起的牙釉质肾综合征(ERS)的特征性口腔表现

de la Dure-Molla, Muriel; Quentric, Mickael; Yamaguti, Paulo Marcio; Acevedo, Ana-Carolina; Mighell, Alan J; Vikkula, Miikka; Huckert, Mathilde; Berdal, Ariane; Bloch-Zupan, Agnes

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

科尔舒特-滕茨综合征患者ROGDI基因中的一种新突变

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

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

由常染色体隐性FAM20A基因突变引起的肾钙质沉着症(釉质肾综合征)

Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L; Howie, Alexander J; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C; Issler, Naomi; Nicholson, Jeremy K; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B; McCredie, David A; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J; Bailleul-Forestier, Isabelle; Verloes, Alain; Le Caignec, Cedric; Roussey, Gwenaelle; Guiol, Julien; Isidor, Bertrand; Logan, Clare; Shore, Roger; Johnson, Colin; Inglehearn, Christopher; Al-Bahlani, Suhaila; Schmittbuhl, Matthieu; Clauss, François; Huckert, Mathilde; Laugel, Virginie; Ginglinger, Emmanuelle; Pajarola, Sandra; Spartà, Giuseppina; Bartholdi, Deborah; Rauch, Anita; Addor, Marie-Claude; Yamaguti, Paulo M; Safatle, Heloisa P; Acevedo, Ana Carolina; Martelli-Júnior, Hercílio; dos Santos Netos, Pedro E; Coletta, Ricardo D; Gruessel, Sandra; Sandmann, Carolin; Ruehmann, Denise; Langman, Craig B; Scheinman, Steven J; Ozdemir-Ozenen, Didem; Hart, Thomas C; Hart, P Suzanne; Neugebauer, Ute; Schlatter, Eberhard; Houillier, Pascal; Gahl, William A; Vikkula, Miikka; Bloch-Zupan, Agnès; Bleich, Markus; Kitagawa, Hiroshi; Unwin, Robert J; Mighell, Alan; Berdal, Ariane; Kleta, Robert