Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption

被引：0
|
作者：
Helmut Roth
Lars G. Fritsche
Christoph Meier
Peter Pilz
Martin Eigenthaler
Philipp Meyer-Marcotty
Angelika Stellzig-Eisenhauer
Peter Proff
Cláudia M. Kanno
Bernhard HF Weber
机构：
[1] University of Regensburg,Institute of Human Genetics
[2] University of Wuerzburg,Department of Orthodontics
[3] University Medical Centre of Regensburg,Dental School, Department of Orthodontics
[4] University Estadual Paulista (UNESP),Araçatuba Dental School
来源：
Clinical Oral Investigations | 2014年 / 18卷
关键词：
Primary failure of tooth eruption; Parathyroid hormone 1 receptor gene; Mutation detection; Protein truncating mutation; Nonsynonymous variant; Familial cases; Simplex cases;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：377 / 384
页数：7
相关论文
共 50 条
  • [11] Exome Resequencing Combined With Linkage Analysis Identifies Novel PTH1R Variants in Primary Failure of Tooth Eruption in Japanese
    Yamaguchi, Tetsutaro
    Hosomichi, Kazuyoshi
    Narita, Akira
    Shirota, Tatsuo
    Tomoyasu, Yoko
    Maki, Koutaro
    Inoue, Ituro
    JOURNAL OF BONE AND MINERAL RESEARCH, 2011, 26 (07) : 1655 - 1661
  • [12] Validating clinical characteristic of primary failure of eruption (PFE) associated with PTH1R variants
    Grippaudo, Cristina
    D'Apolito, Isabella
    Cafiero, Concetta
    Re, Agnese
    Chiurazzi, Pietro
    Frazier-Bowers, Sylvia A.
    PROGRESS IN ORTHODONTICS, 2021, 22 (01)
  • [13] Primary failure of eruption and PTH1R: The importance of a genetic diagnosis for orthodontic treatment planning
    Frazier-Bowers, Sylvia A.
    Simmons, Darrin
    Wright, J. Timothy
    Proffit, William R.
    Ackerman, James L.
    AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS, 2010, 137 (02) : 160.e1 - 160.e7
  • [14] Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene
    S. Aziz
    N. V. Hermann
    M. Dunø
    L. Risom
    J. Daugaard-Jensen
    S. Kreiborg
    European Archives of Paediatric Dentistry, 2019, 20 : 295 - 300
  • [15] Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants
    Cristina Grippaudo
    Isabella D’Apolito
    Concetta Cafiero
    Agnese Re
    Pietro Chiurazzi
    Sylvia A. Frazier-Bowers
    Progress in Orthodontics, 22
  • [16] Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene
    Aziz, S.
    Hermann, N. V.
    Duno, M.
    Risom, L.
    Daugaard-Jensen, J.
    Kreiborg, S.
    EUROPEAN ARCHIVES OF PAEDIATRIC DENTISTRY, 2019, 20 (03) : 295 - 300
  • [17] New Insight into the Genotype-Phenotype Correlation of PTH1R variants and Primary Failure of tooth eruption on an Italian Cohort and Literature Review
    Modafferi, Clarissa
    Tabolacci, Elisabetta
    Fargnoli, Arcangelo
    Cassano, Ilaria
    Bertozzi, Roberto
    Grippaudo, Cristina
    Arcovito, Alessandro
    Lo Vecchio, Filomena
    Lo Cascio, Ettore
    Chiurazzi, Pietro
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 984 - 984
  • [18] A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
    Cristina Grippaudo
    Concetta Cafiero
    Isabella D’Apolito
    Agnese Re
    Maurizio Genuardi
    Pietro Chiurazzi
    Sylvia A. Frazier-Bowers
    BMC Oral Health, 19
  • [19] A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
    Grippaudo, Cristina
    Cafiero, Concetta
    D'Apolito, Isabella
    Re, Agnese
    Genuardi, Maurizio
    Chiurazzi, Pietro
    Frazier-Bowers, Sylvia A.
    BMC ORAL HEALTH, 2019, 19 (01)
  • [20] A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family
    Jelani, Musharraf
    Kang, Changsoo
    Mohamoud, Hussein Sheikh Ali
    Al-Rehaili, Rayan
    Almramhi, Mona Mohammad
    Serafi, Rehab
    Yang, Huanming
    Al-Aama, Jumana Yousuf
    Naeem, Muhammad
    Alkhiary, Yaser Mohammad
    ARCHIVES OF ORAL BIOLOGY, 2016, 67 : 28 - 33
12345