esdn.org
European Skeletal Dysplasia Network
http://www.esdn.org/eug/About/Links
Referring a Case to ESDN. DReams - Dynamic Radiological Electronic Atlas of Malformation Syndromes and Skeletal Dysplasias. DREAMS is a resource for, amongst others: radiologists, clinicians, students, molecular geneticists and researchers. It has applications in diagnostics, teaching and research. It will also be of interest to those involved in the development of other clinical databases. International Skeletal Dysplasia Registry. International Skeletal Dysplasia Society. The OMIM database is a catalog...
fundacionalpe.org
ALPE representada en la XII Reunión de la Sociedad Internacional de Displasias Óseas - ALPE
http://www.fundacionalpe.org/alpe-en-el-xii-congreso-de-la-sociedad-internacional-de-displasias-oseas
ALPE representada en la XII Reunión de la Sociedad Internacional de Displasias Óseas. ALPE representada en la XII Reunión de la Sociedad Internacional de Displasias Óseas. 31, 07, 2015. La Fundación ALPE está representada en estos días en la XII Reunión de la Sociedad Internacional de Displasias Óseas. En Estambul, por nuestra asesora científica, Inês Alves. En esta reunión, participan algunos de los más importantes especialistas del mundo en displasias óseas, como estos. Su sigla en inglés.
tratando-acondroplasia.blogspot.com
Treating Achondroplasia: Support & Information
http://tratando-acondroplasia.blogspot.com/p/support.html
Um blog dedicado ao tratamento da acondroplasia. A blog dedicated to the treatment of achondroplasia. Un blog dedicado al tratamiento de la acondroplasia. This pages lists links to non-profit organizations, institutions or websites that offer relevant medical information and / or social, educational and overall support for achondroplasia and other genetic conditions. Links are organized by country and will be updated as frequen tly. This is the Brazilian network dedicated. This is the link to ORPHANET.
emedicine.medscape.com
Genetics of Glycogen-Storage Disease Type II (Pompe Disease): Background, Pathophysiology, Epidemiology
http://emedicine.medscape.com/article/947870-overview
Medscape is available in 5 Language Editions – Choose your Edition here. Https:/ profreg.medscape.com/px/getpracticeprofile.do? Genetics of Glycogen-Storage Disease Type II (Pompe Disease). Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD more. Updated: Feb 29, 2016. What would you like to print? Print the entire contents of. Late-onset GSD II is characterized by proximal muscle weakness and respiratory compromise. Adults with late-onset GSD II typically present with proxim...
emedicine.medscape.com
Genetics of Marfan Syndrome: Background, Pathophysiology, Epidemiology
http://emedicine.medscape.com/article/946315-overview
Medscape is available in 5 Language Editions – Choose your Edition here. Https:/ profreg.medscape.com/px/getpracticeprofile.do? Genetics of Marfan Syndrome. Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD more. Updated: Mar 21, 2016. What would you like to print? Print the entire contents of. Marfan syndrome results from mutations in the fibrillin-1 (. Recent studies have suggested that abnormalities in the transforming growth factor-beta (. Mapped at 3p24.2-p25) provided ...
bio-lark.org
.:: Bio-LarK - Biomedical Large Knowledge Collider ::.
http://www.bio-lark.org/se_skeldys.html
Phenotype silver standard corpora. HPO gold standard and test suite corpora. SPARQL Endpoint: Rare bone disorders. This SPARQL Endpoint integrates rare bone disorders knowledge retrieve from the following sources:. The International Skeletal Dysplasia Society. Online Mendelian Inheritance in Man. Groups of bone disorders. 1 Choose a Query. 2 Customise Your Query. Results ({ results.results.bindings.length } ). 100" Back to Top.
emedicine.medscape.com
Fragile X Syndrome: Practice Essentials, Background, Pathophysiology
http://emedicine.medscape.com/article/943776-overview
Medscape is available in 5 Language Editions – Choose your Edition here. Https:/ profreg.medscape.com/px/getpracticeprofile.do? Author: Jennifer A Jewell, MD, MS; Chief Editor: Maria Descartes, MD more. Updated: Apr 05, 2016. What would you like to print? Print the entire contents of. Patients with fragile X syndrome present with problems in the following areas. During infancy, developmental milestones may be delayed, especially gross motor development secondary to hypotonia. As children, difficulty when...
kotsukeito.com
骨系統疾患コンソーシウム Japanese Skeletal Dysplasia Consortium
http://www.kotsukeito.com/activity.html
エーラスダンロス症候群 主に血管型および新型 の実態把握および診療指針の確立 (古庄班). 全世界の骨系統疾患研究者のネットワークであるISDS (International Skeletal Dysplasia Society, http:/ www.isds.ch/. ESDN (European Skeletal Dysplasia Network), ISDR (International Skeletal Dysplasia Registry) など世界の主要な骨系統疾患のネットワークと連携し、アメリカ，ヨーロッパのみならず、南米 チリ、ブラジル等 、中東 サウジアラビア、EAU等 等、世界中の医師、研究者をサポートしています 図１。 特に近年は、韓国 ソウル大学、アジョウ大学 、中国 北京大学、南京大学 、台湾 (Academia Sinica) の医師、研究者とは頻繁に連絡を取り合い、彼らの臨床、研究上の問題の解決をサポートしています。 開設以来、コンソーシウムのHPのシステムを維持 構築している河村進吾 骨形成不全症の患者 が、コンソーシウムでの活動により国内青年ボランティア部門を受賞。
emedicine.medscape.com
Genetics of Mucopolysaccharidosis Type I: Background, Pathophysiology, Epidemiology
http://emedicine.medscape.com/article/944816-overview
Medscape is available in 5 Language Editions – Choose your Edition here. Https:/ profreg.medscape.com/px/getpracticeprofile.do? Genetics of Mucopolysaccharidosis Type I. Author: Maryam Banikazemi, MD; Chief Editor: Maria Descartes, MD more. Updated: Oct 13, 2014. What would you like to print? Print the entire contents of. The mucopolysaccharidoses (MPSs) are a family of metabolic disorders caused by the deficiency of lysosomal enzymes needed to degrade glycosaminoglycan (GAG). That encodes alpha-L-iduron...
