Literature DB >> 1360767

International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone.

P Beighton1, Z A Giedion, R Gorlin, J Hall, B Horton, K Kozlowski, R Lachman, L O Langer, P Maroteaux, A Poznanski.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1360767     DOI： 10.1002/ajmg.1320440220

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


× No keyword cloud information.
  10 in total

Review 1.  Progressive pseudorheumatoid dysplasia: report of a family and review.

Authors:  H E el-Shanti; H Z Omari; H I Qubain
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

Authors:  L I al-Gazali; L Sztriha; A Dawodu; E Varady; M Bakir; A Khdir; J Johansen
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

Review 3.  Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era.

Authors:  Shiro Ikegawa
Journal:  J Hum Genet       Date:  2006-05-03       Impact factor: 3.172

4.  Cartilage oligomeric matrix protein-deficient mice have normal skeletal development.

Authors:  Liz Svensson; Attila Aszódi; Dick Heinegård; Ernst B Hunziker; Finn P Reinholt; Reinhard Fässler; Ake Oldberg
Journal:  Mol Cell Biol       Date:  2002-06       Impact factor: 4.272

5.  Bone dysplasias of infancy in the Vienna collection.

Authors:  P Beighton; E Sujansky; B Patzak; K A Portele
Journal:  Pediatr Radiol       Date:  1994

6.  Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis.

Authors:  Yusuke Hashimoto; Takami Tomiyama; Yoshiki Yamano; Hiroshi Mori
Journal:  Am J Pathol       Date:  2003-07       Impact factor: 4.307

7.  A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.

Authors:  D L Rimoin; I M Rasmussen; M D Briggs; P J Roughley; H E Gruber; M L Warman; B R Olsen; Y E Hsia; J Yuen; K Reinker
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

8.  Changes in skeletal dysplasia nosology.

Authors:  Maria Claudia Jurcă; Sânziana Iulia Jurcă; Filip Mirodot; Bogdan Bercea; Emilia Maria Severin; Marius Bembea; Alexandru Daniel Jurcă
Journal:  Rom J Morphol Embryol       Date:  2021 Jul-Sep       Impact factor: 0.833

9.  Cartilage oligomeric matrix protein deficiency promotes early onset and the chronic development of collagen-induced arthritis.

Authors:  Hui Geng; Stefan Carlsen; Kutty Selva Nandakumar; Rikard Holmdahl; Anders Aspberg; Ake Oldberg; Ragnar Mattsson
Journal:  Arthritis Res Ther       Date:  2008-11-14       Impact factor: 5.156

Review 10.  Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.

Authors:  Giulio Calcagni; Flaminia Pugnaloni; Maria Cristina Digilio; Marta Unolt; Carolina Putotto; Marcello Niceta; Anwar Baban; Francesca Piceci Sparascio; Fabrizio Drago; Alessandro De Luca; Marco Tartaglia; Bruno Marino; Paolo Versacci
Journal:  Genes (Basel)       Date:  2021-07-08       Impact factor: 4.096
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.