Literature DB >> 6036008

A childhood syndrome of bone dysplasia, retinal detachment and deafness.

R Roaf, J B Longmore, R M Forrester.   

Abstract

Entities:  

Mesh：

Year:  1967        PMID： 6036008     DOI： 10.1111/j.1469-8749.1967.tb02300.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


× No keyword cloud information.
  9 in total

1.  Spondylo-epiphyseal dysplasia with ocular changes: report of two "new" variants in two different families.

Authors:  J J MacDessi; K Kozlowski; S Posen
Journal:  Pediatr Radiol       Date:  1978-12-04

2.  Karyotype studies among children with severe visual handicap.

Authors:  G R Fraser; A I Friedmann; J D Delhanty; J H Edwards; A M Glen-Bott; J Insley; K P Lele; U Mittwoch; D Mutton
Journal:  Br J Ophthalmol       Date:  1970-02       Impact factor: 4.638

3.  Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps.

Authors:  G R Fraser; A I Friedmann; P Maroteaux; A M Glen-Bott; U Mittwoch
Journal:  Arch Dis Child       Date:  1969-08       Impact factor: 3.791

4.  The differential diagnosis of the short-limbed dwarfs presenting at birth.

Authors:  R N Mukherji; P D Moss
Journal:  Postgrad Med J       Date:  1977-04       Impact factor: 2.401

Review 5.  The Wagner-Stickler syndrome complex.

Authors:  V Godel; P Nemet; M Lazar
Journal:  Doc Ophthalmol       Date:  1981-12-16       Impact factor: 2.379

6.  Syndromes of genetic juvenile retinal detachment.

Authors:  R J Gorlin; W H Knobloch
Journal:  Z Kinderheilkd       Date:  1972

7.  Kniest disease with Pierre Robin syndrome and hydrocephalus.

Authors:  M Cirillo Silengo; G F Davi; R Bianco; A DeMarco; P Franceschini
Journal:  Pediatr Radiol       Date:  1983

8.  Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

Authors:  I J Anderson; R B Goldberg; R W Marion; W B Upholt; P Tsipouras
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

9.  Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.

Authors:  C I Phillips; M Newton; J Duvall; S Holloway; A M Levy
Journal:  Br J Ophthalmol       Date:  1986-04       Impact factor: 4.638
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.