نتایج جستجو برای: amelogenesis imperfecta

تعداد نتایج: 5103  

2015
James A Poulter Claire E L Smith Gina Murrillo Sandra Silva Sally Feather Marianella Howell Laura Crinnion David T Bonthron Ian M Carr Christopher M Watson Chris F Inglehearn Alan J Mighell

Biallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; and Enamel Renal Syndrome. A distinctive oral phenotype is shared in both conditions. On Sanger sequencing of FAM20A in cases with that phenotype, we identified two probands with single, likely pathogenic heterozygous mutations...

2015
Pippa Powell Thierry Troosters Frits M.E. Franssen Martijn A. Spruit Steve Sealy Elisabeth H. Bel Dan Smyth Pieter S. Hiemstra

ERS/ELF say "take the active option" for Healthy Lungs for Life http://ow.ly/R1WaX.

2010
Daniel Monells Juan M. Lopez-Sanchez

This paper presents an analysis of the performance of TerraSAR-X for subsidence monitoring in urban areas. The city of Murcia has been selected as a test-site due to its high deformation rate and the set of extensometers deployed along the city that provide validation data. The obtained results have been compared with those obtained from ERS/ENVISAT data belonging to the same period and validat...

2017
Alexander G. Mathioudakis Ibon Eguiluz Gracia Sabine Bartel Olympia Tsilochristou

Learn about the collaboration between @EarlyCareerERS and @EAACI_JM http://ow.ly/WUTO30d7dpC.

2008
Lijun Lu Mingsheng Liao

Spaceborne SAR Differential interferometry (DInSAR) has been used to monitor some geological disasters such as ground subsidence. This paper applies two Permanent Scatterer InSAR(PS-InSAR) techniques to measure long-term and short-term subsidence in urban area of Shanghai urban. A great number of archieved ERS data are utilized to measure long-term subsidence during 1993-2000 year. A small set ...

Journal: :Human mutation 2008
Sook-Kyung Lee Jan C-C Hu John D Bartlett Kyung-Eun Lee Brent P-J Lin James P Simmer Jung-Wook Kim

Dental enamel forms through the concerted activities of specialized extracellular matrix proteins, including amelogenin, enamelin, MMP20, and KLK4. Defects in the genes encoding these proteins cause non-syndromic inherited enamel malformations collectively designated as amelogenesis imperfecta (AI). These genes, however, account for only about a quarter of all AI cases. Recently we identified m...

2012
Ola B. Al-Batayneh

Tricho-dento-osseous (TDO) syndrome is a rare, autosomal dominant disorder principally characterised by curly hair at infancy, severe enamel hypomineralization and hypoplasia and taurodontism of teeth, sclerotic bone, and other defects. Diagnostic criteria are based on the generalized enamel defects, severe taurodontism especially of the mandibular first permanent molars, an autosomal dominant ...

Journal: :The journal of contemporary dental practice 2010
Cíntia Maria de Souza-e-Silva Thaís Manzano Parisotto Carolina Steiner-Oliveira Maria Beatriz Duarte Gavião Marinês Nobre-Dos-Santos

AIM The purpose of the case report was to describe the treatment of a 4(1/2)-year-old boy with amelogenesis imperfect (AI) in the primary dentition. BACKGROUND AI is a hereditary condition that affects the development of enamel, causing quantity, structural, and compositional anomalies involving all dentitions. Consequently, the effects can extend to both the primary and secondary dentitions....

2016
Sebastian Ley Nicolino Ambrosino Deebya Raj Mishra

ERS hosted a 3-day course on thoracic imaging in Barcelona, Spain http://ow.ly/Y767p.

2018
Nicolas C. Kahn Sabine Bartel Andre F.S. Amaral Lieuwe D. Bos Jana De Brandt

Opportunities for early career members to get involved in ERS activities in 2018 
http://ow.ly/rmyd30hDBCN.

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