Literature DB >> 20989207

Dwarfism with retinal atrophy and deafness.

E A COCKAYNE.   

Abstract

Entities:  

Keywords:  DEAFNESS/in infants and children; DWARFISM; RETINA/atrophy

Mesh：

Year:  1946        PMID： 20989207

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


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  18 in total

1.  Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony.

Authors:  Alexandre T Vessoni; Roberto H Herai; Jerome V Karpiak; Angelica M S Leal; Cleber A Trujillo; Annabel Quinet; Lucymara F Agnez Lima; Carlos F M Menck; Alysson R Muotri
Journal:  Hum Mol Genet       Date:  2016-01-10       Impact factor: 6.150

Review 2.  Cockayne syndrome: Clinical features, model systems and pathways.

Authors:  Ajoy C Karikkineth; Morten Scheibye-Knudsen; Elayne Fivenson; Deborah L Croteau; Vilhelm A Bohr
Journal:  Ageing Res Rev       Date:  2016-08-06       Impact factor: 10.895

Review 3.  Genetic control of postnatal human brain growth.

Authors:  Laura I van Dyck; Eric M Morrow
Journal:  Curr Opin Neurol       Date:  2017-02       Impact factor: 5.710

4.  Ultrastructure of peripheral nerve in Cockayne's syndrome.

Authors:  S Roy; R N Srivastava; P C Gupta; G Mayekar
Journal:  Acta Neuropathol       Date:  1973       Impact factor: 17.088

5.  [Demyelination with calcium deposits and mikrocephaly].

Authors:  E D'Hoore; F Gullotta
Journal:  Acta Neuropathol       Date:  1971       Impact factor: 17.088

6.  Cockayne's syndrome. Report of case with necropsy findings.

Authors:  U Rowlatt
Journal:  Acta Neuropathol       Date:  1969-09-09       Impact factor: 17.088

7.  Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome.

Authors:  U Reiss; K Hofweber; R Herterich; R Waldherr; E Bohnert; E Jung; K Schärer
Journal:  Pediatr Nephrol       Date:  1996-10       Impact factor: 3.714

Review 8.  Dna repair: pathways and defects.

Authors:  C R Bartram
Journal:  Eur J Pediatr       Date:  1980-12       Impact factor: 3.183

9.  Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome.

Authors:  G Keren; D Duksin; B E Cohen; R M Goodman
Journal:  Eur J Pediatr       Date:  1981-11       Impact factor: 3.183

10.  Special issue on the segmental progeria Cockayne syndrome.

Authors:  David M Wilson; Vilhelm A Bohr
Journal:  Mech Ageing Dev       Date:  2013-04-11       Impact factor: 5.432
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