Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages

Pediatrics International

Volumn 43, Issue 2, 2001, Pages 120-123

  Haider, Mohammad Z ^a   Devarajan, Lakshminaran V ^a   Al Essa, Mazen ^a   Srivastva, Braham S ^a   Kumar, Harsh ^b   Azad, Rajvardhan ^b   Rashwan, Nabil ^c  

^a KUWAIT UNIVERSITY   (Kuwait)

^b IBN SINA HOSPITAL   (Kuwait)

^c AL SABAH HOSPITAL   (Kuwait)

Author keywords

Missense mutation; Norrie disease gene; Polymerase chain reaction; Retinopathy of prematurity

Indexed keywords

ARTICLE; COHORT ANALYSIS; DISEASE COURSE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; INFANT; KUWAIT; MAJOR CLINICAL STUDY; MALE; NORRIE DISEASE; POLYMERASE CHAIN REACTION; PREMATURITY; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETROLENTAL FIBROPLASIA; RISK ASSESSMENT;

DISEASE PROGRESSION; FEMALE; GESTATIONAL AGE; HUMANS; INFANT, LOW BIRTH WEIGHT; INFANT, NEWBORN; INFANT, PREMATURE; KUWAIT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RETINOPATHY OF PREMATURITY; RISK FACTORS;

EID: 0035038715     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2001.01361.x     Document Type: Article

References (14)

1. An international classification of retinopathy of prematurity
2. The international committee for the classification of late stages of retinopathy of prematurity. II. The Classification of retinal detachment
3. Retinopathy of prematurity
4. Identification of a recurrent missense mutation in the Norrie disease gene associated with a simple case of exudative vitreoretinopathy
5. A mutation in the Norrie disease (ND) associated with X-linked familial exudative vitreoretinopathy
6. Isolation of a candidate gene for Norrie disease by positional cloning
7. Norrie disease is caused by mutations in an extra cellular protein resembling C-terminal globular domain of mucins
8. Identification of a nonsense mutation at codon 128 of the Norrie disease gene in a male infant
9. Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity
10. Molecular dissection of Norrie disease
11. Two new mutations (A105T and C110G) in the Norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy
12. Molecular modelling of the Norrie disease protein predicts a cysteine knot growth factor tertiary structure
13. Missense mutations in Norrie disease gene are not associated with advanced stages of retinopathy of prematurity