Literature DB >> 4648959

[Multiple synostosis disease].

P Maroteaux, J P Bouvet, M L Briard.   

Abstract

Entities:  

Mesh：

Year:  1972        PMID： 4648959

Source DB:  PubMed          Journal:  Nouv Presse Med        ISSN： 0301-1518


× No keyword cloud information.
  8 in total

1.  Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

Authors:  Akira Ganaha; Tadashi Kaname; Yukinori Akazawa; Teruyuki Higa; Ayano Shinjou; Kenji Naritomi; Mikio Suzuki
Journal:  J Hum Genet       Date:  2014-11-13       Impact factor: 3.172

2.  Brachydactylia with symphalangism, probably autosomal recessive.

Authors:  R Walbaum; C Hazard; R Cordier
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

3.  Cushing proximal symphalangism and the NOG and GDF5 genes.

Authors:  Sara K Plett; Walter E Berdon; Robert A Cowles; Rahmi Oklu; John B Campbell
Journal:  Pediatr Radiol       Date:  2007-11-10

4.  Symphalangism with metacarpophalangeal fusions and elbow abnormalities.

Authors:  E G Kassner; I Katz; Q H Qazi
Journal:  Pediatr Radiol       Date:  1976-02-13

5.  A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

Authors:  K Lehmann; P Seemann; F Silan; T O Goecke; S Irgang; K W Kjaer; S Kjaergaard; M J Mahoney; S Morlot; C Reissner; B Kerr; A O M Wilkie; S Mundlos
Journal:  Am J Hum Genet       Date:  2007-06-08       Impact factor: 11.025

6.  Multiple synostosis syndrome.

Authors:  J C Pedersen; J P Fryns; G Carpentier; G Heremans; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1980-09       Impact factor: 3.183

7.  Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.

Authors:  Xiao-Lin Wu; Ming-Min Gu; Lei Huang; Xue-Song Liu; Hong-Xin Zhang; Xiao-Yi Ding; Jian-Qiang Xu; Bin Cui; Long Wang; Shun-Yuan Lu; Xiao-Yi Chen; Hai-Guo Zhang; Wei Huang; Wen-Tao Yuan; Jiang-Ming Yang; Qun Gu; Jian Fei; Zhu Chen; Zhi-Min Yuan; Zhu-Gang Wang
Journal:  Am J Hum Genet       Date:  2009-07       Impact factor: 11.025

8.  Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

Authors:  D Krakow; K Reinker; B Powell; R Cantor; M A Priore; A Garber; R S Lachman; D L Rimoin; D H Cohn
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.