Shazia Micheal

Park Road
Chak Shahzad, IS 44000, Pakistan

Last Updated: 09/26/2026

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Found 29 publications

Functionally deficient UBOX5 variants and primary angle-closure glaucoma.

Functionally deficient UBOX5 variants and primary angle-closure glaucoma.

Journal: Nature communications

Published: July 31, 2024

Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

Journal: Molecular genetics & genomic medicine

Published: December 17, 2021

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.

Journal: Molecular genetics & genomic medicine

Published: January 06, 2020

Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.

Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.

Journal: Cornea

Published: March 14, 2019

MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world.

MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world.

Journal: Personalized medicine

Published: November 24, 2018

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.

Journal: Genes

Published: January 19, 2018

Variants in the PRPF8 Gene are Associated with Glaucoma.

Variants in the PRPF8 Gene are Associated with Glaucoma.

Journal: Molecular neurobiology

Published: March 29, 2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Journal: Nature genetics

Published: September 30, 2016

Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family.

Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family.

Journal: Molecular neurobiology

Published: May 11, 2016

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

Journal: PloS one

Published: May 04, 2016

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.

Journal: Cornea

Published: April 01, 2016

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Journal: American journal of human genetics

Published: March 17, 2016

Showing 1-12 of 29

Last Updated: 09/26/2026