Literature DB >> 22434185

Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa.

Wing Yan Yuen, Anna M G Pasmooij, Cornelis Stellingsma, Marcel F Jonkman.   

Abstract

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Year:  2012        PMID： 22434185     DOI： 10.2340/00015555-1341

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  20 in total

1.  Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.

Authors:  Figen Seymen; Youn Jung Kim; Ye Ji Lee; Jenny Kang; Tak-Heun Kim; Hwajung Choi; Mine Koruyucu; Yelda Kasimoglu; Elif Bahar Tuna; Koray Gencay; Teo Jeon Shin; Hong-Keun Hyun; Young-Jae Kim; Sang-Hoon Lee; Zang Hee Lee; Hong Zhang; Jan C-C Hu; James P Simmer; Eui-Sic Cho; Jung-Wook Kim
Journal:  Am J Hum Genet       Date:  2016-10-27       Impact factor: 11.025

2.  LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.

Authors:  J W Kim; F Seymen; K E Lee; J Ko; M Yildirim; E B Tuna; K Gencay; T J Shin; H K Kyun; J P Simmer; J C-C Hu
Journal:  J Dent Res       Date:  2013-08-19       Impact factor: 6.116

3.  Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

Authors:  M Koruyucu; J Kang; Y J Kim; F Seymen; Y Kasimoglu; Z H Lee; T J Shin; H K Hyun; Y J Kim; S H Lee; J C C Hu; J P Simmer; J W Kim
Journal:  J Dent Res       Date:  2018-03-19       Impact factor: 6.116

4.  Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.

Authors:  Katarzyna B Gostyńska; Wing Yan Yuen; Anna Maria Gerdina Pasmooij; Cornelius Stellingsma; Hendri H Pas; Henny Lemmink; Marcel F Jonkman
Journal:  Eur J Hum Genet       Date:  2016-11-09       Impact factor: 4.246

5.  ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Authors:  Shih-Kai Wang; Murim Choi; Amelia S Richardson; Bryan M Reid; Brent P Lin; Susan J Wang; Jung-Wook Kim; James P Simmer; Jan C-C Hu
Journal:  Hum Mol Genet       Date:  2013-12-04       Impact factor: 6.150

6.  Detection of copy number variants in African goats using whole genome sequence data.

Authors:  Wilson Nandolo; Gábor Mészáros; Maria Wurzinger; Liveness J Banda; Timothy N Gondwe; Henry A Mulindwa; Helen N Nakimbugwe; Emily L Clark; M Jennifer Woodward-Greene; Mei Liu; George E Liu; Curtis P Van Tassell; Benjamin D Rosen; Johann Sölkner
Journal:  BMC Genomics       Date:  2021-05-29       Impact factor: 3.969

7.  Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.

Authors:  Susanne Krämer; James Lucas; Francisca Gamboa; Miguel Peñarrocha Diago; David Peñarrocha Oltra; Marcelo Guzmán-Letelier; Sanchit Paul; Gustavo Molina; Lorena Sepúlveda; Ignacio Araya; Rubén Soto; Carolina Arriagada; Anne W Lucky; Jemima E Mellerio; Roger Cornwall; Fatimah Alsayer; Reinhard Schilke; Mark Adam Antal; Fernanda Castrillón; Camila Paredes; Maria Concepción Serrano; Victoria Clark
Journal:  Spec Care Dentist       Date:  2020-11

8.  Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity.

Authors:  K-E Lee; J Ko; C G Tran Le; T J Shin; H-K Hyun; S-H Lee; J-W Kim
Journal:  Clin Genet       Date:  2014-02-04       Impact factor: 4.438

9.  Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

Authors:  James A Poulter; Walid El-Sayed; Roger C Shore; Jennifer Kirkham; Chris F Inglehearn; Alan J Mighell
Journal:  Eur J Hum Genet       Date:  2013-05-01       Impact factor: 4.246

10.  A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Authors:  Megana K Prasad; Véronique Geoffroy; Serge Vicaire; Bernard Jost; Michael Dumas; Stéphanie Le Gras; Marzena Switala; Barbara Gasse; Virginie Laugel-Haushalter; Marie Paschaki; Bruno Leheup; Dominique Droz; Amelie Dalstein; Adeline Loing; Bruno Grollemund; Michèle Muller-Bolla; Séréna Lopez-Cazaux; Maryline Minoux; Sophie Jung; Frédéric Obry; Vincent Vogt; Jean-Luc Davideau; Tiphaine Davit-Beal; Anne-Sophie Kaiser; Ute Moog; Béatrice Richard; Jean-Jacques Morrier; Jean-Pierre Duprez; Sylvie Odent; Isabelle Bailleul-Forestier; Monique Marie Rousset; Laure Merametdijan; Annick Toutain; Clara Joseph; Fabienne Giuliano; Jean-Christophe Dahlet; Aymeric Courval; Mustapha El Alloussi; Samir Laouina; Sylvie Soskin; Nathalie Guffon; Anne Dieux; Bérénice Doray; Stephanie Feierabend; Emmanuelle Ginglinger; Benjamin Fournier; Muriel de la Dure Molla; Yves Alembik; Corinne Tardieu; François Clauss; Ariane Berdal; Corinne Stoetzel; Marie Cécile Manière; Hélène Dollfus; Agnès Bloch-Zupan
Journal:  J Med Genet       Date:  2015-10-26       Impact factor: 6.318
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