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Literature DB >> 16980647

Advanced bilateral persistent fetal vasculature associated with a novel mutation in the Norrie gene.

S Dhingra, D J Shears, V Blake, H Stewart, C K Patel.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2006 PMID： 16980647 PMCID： PMC1857430 DOI： 10.1136/bjo.2005.088625

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

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7 in total

1. Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature.

Authors: R Haddad; R L Font; F Reeser
Journal: Surv Ophthalmol Date: 1978 Sep-Oct Impact factor: 6.048

2. Isolation of a candidate gene for Norrie disease by positional cloning.

Authors: W Berger; A Meindl; T J van de Pol; F P Cremers; H H Ropers; C Döerner; A Monaco; A A Bergen; R Lebo; M Warburg
Journal: Nat Genet Date: 1992-06 Impact factor: 38.330

3. A novel mutation in the Norrie disease gene.

Authors: S Ott; R J Patel; B Appukuttan; X Wang; J T Stout
Journal: J AAPOS Date: 2000-04 Impact factor: 1.220

4. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.

Authors: A Meindl; B Lorenz; H Achatz; H Hellebrand; P Schmitz-Valckenberg; T Meitinger
Journal: Hum Mol Genet Date: 1995-03 Impact factor: 6.150

5. Norrie's disease: an X-linked syndrome of retinal malformation, mental retardation, and deafness.

Authors: L B Holmes
Journal: J Pediatr Date: 1971-07 Impact factor: 4.406

6. Isolation and characterization of a candidate gene for Norrie disease.

Authors: Z Y Chen; R W Hendriks; M A Jobling; J F Powell; X O Breakefield; K B Sims; I W Craig
Journal: Nat Genet Date: 1992-06 Impact factor: 38.330

7. Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.

Authors: J Zaremba; S Feil; J Juszko; W Myga; G van Duijnhoven; W Berger
Journal: Ophthalmic Genet Date: 1998-09 Impact factor: 1.803

7 in total

5 in total

1. Unilateral sporadic retinal dysplasia: results of histopathologic, immunohistochemical, chromosomal, genetic, and VEGF-A analyses.

Authors: Frederick A Jakobiec; Fouad R Zakka; Robert D'Amato; Margaret M Deangelis; David S Walton; Rajesh C Rao
Journal: J AAPOS Date: 2011-12 Impact factor: 1.220

Advanced bilateral persistent fetal vasculature associated with a novel mutation in the Norrie gene.

1. Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature.

2. Isolation of a candidate gene for Norrie disease by positional cloning.

3. A novel mutation in the Norrie disease gene.

4. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.

5. Norrie's disease: an X-linked syndrome of retinal malformation, mental retardation, and deafness.

6. Isolation and characterization of a candidate gene for Norrie disease.

7. Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.

1. Unilateral sporadic retinal dysplasia: results of histopathologic, immunohistochemical, chromosomal, genetic, and VEGF-A analyses.

2. Norrie disease: first mutation report and prenatal diagnosis in an Indian family.

3. Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.

4. pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish.

5. Outcomes and surgical management of persistent fetal vasculature.