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Literature DB >> 12386101

Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).

D A Morrison¹, D R FitzPatrick, B W Fleck.

Abstract

Entities: Disease

Mesh：

Year: 2002 PMID： 12386101 PMCID： PMC1771353 DOI： 10.1136/bjo.86.11.1316

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

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6 in total

Review 1. An update on chromosome deletion and microdeletion syndromes.

Authors: S K Shapira
Journal: Curr Opin Pediatr Date: 1998-12 Impact factor: 2.856

2. Additional eye findings in a girl with the velo-cardio-facial syndrome.

Authors: F A Beemer; J J de Nef; J W Delleman; E M Bleeker-Wagemakers; R J Shprintzen
Journal: Am J Med Genet Date: 1986-07

Review 3. Phenotypic variability of Cat-Eye syndrome.

Authors: M J Berends; G Tan-Sindhunata; B Leegte; A J van Essen
Journal: Genet Couns Date: 2001

4. DiGeorge syndrome: part of CATCH 22.

Authors: D I Wilson; J Burn; P Scambler; J Goodship
Journal: J Med Genet Date: 1993-10 Impact factor: 6.318

5. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

Authors: D Kelly; R Goldberg; D Wilson; E Lindsay; A Carey; J Goodship; J Burn; I Cross; R J Shprintzen; P J Scambler
Journal: Am J Med Genet Date: 1993-02-01

6. Ocular findings in the velo-cardio-facial syndrome.

Authors: A M Mansour; R B Goldberg; F M Wang; R J Shprintzen
Journal: J Pediatr Ophthalmol Strabismus Date: 1987 Sep-Oct Impact factor: 1.402

6 in total

5 in total

Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).

Review 1. An update on chromosome deletion and microdeletion syndromes.

2. Additional eye findings in a girl with the velo-cardio-facial syndrome.

Review 3. Phenotypic variability of Cat-Eye syndrome.

4. DiGeorge syndrome: part of CATCH 22.

5. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

6. Ocular findings in the velo-cardio-facial syndrome.

1. Swollen optic discs in a patient with the chromosome 22q11.2 deletion syndrome.

Review 2. Neural crest derivatives in ocular development: discerning the eye of the storm.

Review 3. Ocular coloboma: a reassessment in the age of molecular neuroscience.

4. GDF6, a novel locus for a spectrum of ocular developmental anomalies.

5. Cell Behaviors during Closure of the Choroid Fissure in the Developing Eye.