Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Dwarfism with retinal atrophy and deafness.

Literature DB >> 21032019

Dwarfism with retinal atrophy and deafness.

E A Cockayne.

Abstract

Entities: Disease

Year: 1936 PMID： 21032019 PMCID： PMC1975412 DOI： 10.1136/adc.11.61.1

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

Keyword Cloud
Cited

× No keyword cloud information.

44 in total

Review 1. Cockayne syndrome group B cellular and biochemical functions.

Authors: Cecilie Löe Licht; Tinna Stevnsner; Vilhelm A Bohr
Journal: Am J Hum Genet Date: 2003-11-24 Impact factor: 11.025

2. Giardiasis in children; first report of an investigation.

Authors: S K BOSE; D K BASU
Journal: Indian J Pediatr Date: 1958-05 Impact factor: 1.967

3. Anesthetic management of an infant with Cockayne's syndrome.

Authors: K Nishina; K Mikawa; N Maekawa; M Shiga; R Goto; H Yaku; H Obara
Journal: J Anesth Date: 1993-10 Impact factor: 2.078

4. Cranial CT and MRI in diseases with DNA repair defects.

Authors: P Demaerel; B E Kendall; D Kingsley
Journal: Neuroradiology Date: 1992 Impact factor: 2.804

5. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Authors: Laila Shehata; Dimitre R Simeonov; Anja Raams; Lynne Wolfe; Adeline Vanderver; Xueli Li; Yan Huang; Shannon Garner; Cornelius F Boerkoel; Audrey Thurm; Gail E Herman; Cynthia J Tifft; Miao He; Nicolaas G J Jaspers; William A Gahl
Journal: Am J Med Genet A Date: 2014-09-22 Impact factor: 2.802

Review 6. Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.

Authors: Mohsen Hosseini; Khaled Ezzedine; Alain Taieb; Hamid R Rezvani
Journal: J Invest Dermatol Date: 2014-10-09 Impact factor: 8.551

Dwarfism with retinal atrophy and deafness.

Review 1. Cockayne syndrome group B cellular and biochemical functions.

2. Giardiasis in children; first report of an investigation.

3. Anesthetic management of an infant with Cockayne's syndrome.

4. Cranial CT and MRI in diseases with DNA repair defects.

5. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Review 6. Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.

Review 7. Cockayne syndrome: Clinical features, model systems and pathways.

Review 8. DNA damage in the oligodendrocyte lineage and its role in brain aging.

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

10. Special issue on the segmental progeria Cockayne syndrome.