Searchable abstracts of presentations at key conferences on calcified tissues

Bone Abstracts

Published by BioScientifica
Previous issue | Volume 3 | ECTS2014 | Next issue

European Calcified Tissue Society Congress 2014

Prague, Czech Republic
17 May 2014 - 20 May 2014

Card image cap
European Calcified Tissue Society Annual Congress, 17 - 20 May 2014; Prague, Czech Republic

Clinical Case Oral Communications

(1)

Table of contents
Molecular diagnosis of osteopetrotic patients with atypical presentations using traditional approaches and exome sequencing
Palagano Eleonora   Pangrazio Alessandra   Strina Dario   Puddu Alessandro   Oppo Manuela   Valentini Maria   Vezzoni Paolo   Villa Anna   Sobacchi Cristina  
1CNR-IRGB, Milan Unit, Milan, Italy; 2Istituto Clinico Humanitas IRCCS, Rozzano, Italy; 3CRS4 Bioinformatics Laboratory, Parco Scientifico e Tecnologico POLARIS, Pula, Italy; 4CNR-IRGB, Cittadella Universitaria di Monserrato, Cagliari, Italy.
ba0003cc1
Hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; Long-term clinical outcome and phenotypic variability.
Rafaelsen Silje   Johansson Stefan   Raeder Helge   Bjerknes Robert  
1Institute of Clinical Science, University of Bergen, Bergen, Norway; 2Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; 3Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
ba0003cc2
Absence of ER cation channel TMEM38B/TRIC-B causes recessive osteogenesis imperfecta by dysregulation of collagen post-translational modification
Cabral Wayne   Makareeva Elena   Ishikawa Masaki   Barnes Aileen   MaryAnn Weis   Lacbawan Felicitas   Eyre David   Yamada Yoshihiko   Leikin Sergey   Marini Joan  
1Bone and Extracellular Matrix Branch, NICH, NIH, Bethesda, Maryland, USA; 2Section on Physical Biochemistry, NICHD, NIH, Bethesda, Maryland, USA; 3Molecular Biology Section, NIDCR, NIH, Bethesda, Maryland, USA; 4Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, USA; 5Department of Medical Genetics, Children’s National Medical Center, Washington, District of Columbia, USA.
ba0003cc3
Two novel compound heterozygous mutations in LRP5 cause osteoporosis pseudoglioma syndrome
Alonso N   Soares D C   Kabir D   Summers G D   Ralston S H   Gregson C L  
1Rheumatic Diseases Unit, MRC Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK; 2MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK; 3Department of Rheumatology, Derby Hospitals NHS Foundations Trust, Derby, UK; 4Musculoskeletal Research Unit, School of Clinical Sciences, University of Bristol, Bristol, UK.
ba0003cc4

Published by BioScientifica

Bone Abstracts
ISSN 2052-1219 (online)
© Bioscientifica 2021 | Privacy policy | Cookie settings

BiosciAbstracts

Biosci AbstractsBiosci Abstracts Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more