Literature DB >> 13781040

Symphalangism, strabismus and hearing loss in mother and daughter.

E S VESELL.   

Abstract

Entities:  

Keywords:  DEAFNESS/genetics; FINGERS/abnormalities; STRABISMUS/genetics

Mesh：

Year:  1960        PMID： 13781040     DOI： 10.1056/NEJM196010272631706

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  9 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.  Symphalangism: a pedigree from South India.

Authors:  G Savarinathan; W R Centerwall
Journal:  J Med Genet       Date:  1966-12       Impact factor: 6.318

3.  [Symphalangism, strabism, and anomaly of the middle ear (author's transl)].

Authors:  J F Gloede; H H Stenger
Journal:  Humangenetik       Date:  1974-04-24

4.  Congenital stapesankylosis and fusion of tarsal and carpal bones as a dominant hereditary syndrome.

Authors:  H Spoendlin
Journal:  Arch Otorhinolaryngol       Date:  1974

5.  [Symphalangisms and stapes ankylosis].

Authors:  H H Stenger; J F Gloede
Journal:  Arch Klin Exp Ohren Nasen Kehlkopfheilkd       Date:  1972

6.  Stapes fixation a proximal symphalangism.

Authors:  R J Gorlin; G Kietzer; J Wolfson
Journal:  Z Kinderheilkd       Date:  1970

7.  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

8.  Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome.

Authors:  E Athanasakis; X Biarnés; M T Bonati; P Gasparini; F Faletra
Journal:  Mol Syndromol       Date:  2012-04-11

9.  Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.

Authors:  Rong Yu; Hongqun Jiang; Huihuang Liao; Wugen Luo
Journal:  BMC Med Genomics       Date:  2020-12-11       Impact factor: 3.063
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.