Literature DB >> 19213025

Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.

D R Bertola1, R Antequera, M J Rodovalho, R S Honjo, L M J Albano, I M Furquim, L A Oliveira, C A Kim.   

Abstract

Entities:  

Mesh：

Year:  2009        PMID： 19213025     DOI： 10.1002/ajmg.a.32661

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  5 in total

1.  A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.

Authors:  A Kuechler; J Hentschel; I Kurth; B Stephan; E-C Prott; B Schweiger; A Schuster; D Wieczorek; H-J Lüdecke
Journal:  Mol Syndromol       Date:  2012-10-19

2.  Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.

Authors:  Curtis R Herzog; Bryan M Reid; Figen Seymen; Mine Koruyucu; Elif Bahar Tuna; James P Simmer; Jan C-C Hu
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol       Date:  2014-09-16

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

Authors:  Mathilde Huckert; Corinne Stoetzel; Supawich Morkmued; Virginie Laugel-Haushalter; Véronique Geoffroy; Jean Muller; François Clauss; Megana K Prasad; Frédéric Obry; Jean Louis Raymond; Marzena Switala; Yves Alembik; Sylvie Soskin; Eric Mathieu; Joseph Hemmerlé; Jean-Luc Weickert; Branka Brukner Dabovic; Daniel B Rifkin; Annelies Dheedene; Eveline Boudin; Oana Caluseriu; Marie-Claude Cholette; Ross Mcleod; Reynaldo Antequera; Marie-Paule Gellé; Jean-Louis Coeuriot; Louis-Frédéric Jacquelin; Isabelle Bailleul-Forestier; Marie-Cécile Manière; Wim Van Hul; Debora Bertola; Pascal Dollé; Alain Verloes; Geert Mortier; Hélène Dollfus; Agnès Bloch-Zupan
Journal:  Hum Mol Genet       Date:  2015-02-10       Impact factor: 6.150

4.  A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report.

Authors:  Samir Laouina; Siham Chafai El Alaoui; Rachida Amezian; Abderrahmane Al Bouzidi; Abdelaziz Sefiani; Mustapha El Alloussi
Journal:  J Med Case Rep       Date:  2015-10-28

5.  A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Authors:  Elisabetta Flex; Valentina Imperatore; Giovanna Carpentieri; Alessandro Bruselles; Andrea Ciolfi; Simone Pizzi; Maria Giovanna Tedesco; Daniela Rogaia; Amedea Mencarelli; Giuseppe Di Cara; Alberto Verrotti; Stefania Troiani; Giuseppe Merla; Marco Tartaglia; Paolo Prontera
Journal:  Genes (Basel)       Date:  2021-09-12       Impact factor: 4.096
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.