Literature DB >> 5803642

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

G R Fraser, A I Friedmann, P Maroteaux, A M Glen-Bott, U Mittwoch.   

Abstract

Entities:  

Mesh：

Year:  1969        PMID： 5803642      PMCID： PMC2020135          DOI： 10.1136/adc.44.236.490

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


× No keyword cloud information.
  17 in total

1.  [Diastrophic nanism].

Authors:  M LAMY; P MAROTEAUX
Journal:  Presse Med       Date:  1960-11-23       Impact factor: 1.228

2.  [Not Available].

Authors:  P MAROTEAUX; M LAMY; J BERNARD
Journal:  Presse Med       Date:  1957-06-26       Impact factor: 1.228

3.  [Ehlers-Danlos and Brailsford-Morquio syndrome: nosologic correlations].

Authors:  V MANTOVANI; S NORDIO
Journal:  Minerva Pediatr       Date:  1956-10-27       Impact factor: 1.312

4.  [Enchondralis dysostosis, type Bartenwerfer].

Authors:  H UHLIG
Journal:  Arch Kinderheilkd       Date:  1954

5.  A hereditary factor in chondrodystrophia calcificans congenita.

Authors:  F C FRASER; J B SCRIVER
Journal:  N Engl J Med       Date:  1954-02-18       Impact factor: 91.245

6.  [Differential diagnosis between dysostosis enchondralis and chondrodystrophy].

Authors:  W KNIEST
Journal:  Z Kinderheilkd       Date:  1952

7.  [Hurler's polydystrophy in a premature infant; associated with congenital cataract].

Authors:  J J HATT
Journal:  Strasb Med       Date:  1952-12

8.  [Dominant heredity in a case of a polytopic enchondral dysostosis Pfaundler-Hurler type].

Authors:  B DAVID
Journal:  Z Orthop Ihre Grenzgeb       Date:  1954

9.  [Metatrophic dwarfism].

Authors:  P Maroteaux; J Spranger; H R Wiedemann
Journal:  Arch Kinderheilkd       Date:  1966-02

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

Authors:  R Roaf; J B Longmore; R M Forrester
Journal:  Dev Med Child Neurol       Date:  1967-08       Impact factor: 5.449
View more
  10 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.  Genetical aspects of severe visual impairment in childhood.

Authors:  G R Fraser
Journal:  J Med Genet       Date:  1970-09       Impact factor: 6.318

3.  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

Review 4.  The Wagner-Stickler syndrome complex.

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

5.  Syndromes of genetic juvenile retinal detachment.

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

6.  Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.

Authors:  K D MacDermot; S C Roth; C Hall; R M Winter
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318

7.  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

8.  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.  Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.

Authors:  Ravi Savarirayan; David E Tunkel; Laura M Sterni; Michael B Bober; Tae-Joon Cho; Michael J Goldberg; Julie Hoover-Fong; Melita Irving; Shawn E Kamps; William G Mackenzie; Cathleen Raggio; Samantha A Spencer; Viviana Bompadre; Klane K White
Journal:  Orphanet J Rare Dis       Date:  2021-01-14       Impact factor: 4.123

10.  Diagnosing mucopolysaccharidosis IVA.

Authors:  Timothy C Wood; Katie Harvey; Michael Beck; Maira Graeff Burin; Yin-Hsiu Chien; Heather J Church; Vânia D'Almeida; Otto P van Diggelen; Michael Fietz; Roberto Giugliani; Paul Harmatz; Sara M Hawley; Wuh-Liang Hwu; David Ketteridge; Zoltan Lukacs; Nicole Miller; Marzia Pasquali; Andrea Schenone; Jerry N Thompson; Karen Tylee; Chunli Yu; Christian J Hendriksz
Journal:  J Inherit Metab Dis       Date:  2013-02-01       Impact factor: 4.982
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.