Lista de obras -

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

artículo científico publicado en 2016

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

artículo científico publicado en 2019

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

artículo científico publicado en 2019

Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma.

artículo científico publicado en 2014

CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa ⬇️

artículo científico publicado el 18 de febrero de 2011

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

scientific article published on 01 November 2019

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

artículo científico publicado en 2018

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

artículo científico publicado en 2017

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome ⬇️

artículo científico publicado el 21 de marzo de 2013

Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan ⬇️

artículo científico publicado el 4 de enero de 2012

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

scientific article published on 21 November 2019

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

scientific article published on 06 October 2016

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

artículo científico publicado en 2017

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

artículo científico publicado en 2016

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

artículo científico publicado en 2014

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ⬇️

artículo científico publicado en 2018

Identification of Novel Mutations in Pakistani Families With Autosomal Recessive Retinitis Pigmentosa ⬇️

artículo científico publicado el 1 de octubre de 2011

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome ⬇️

artículo científico publicado el 18 de julio de 2012

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma

artículo científico publicado en 2014

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa ⬇️

artículo científico publicado el 10 de mayo de 2012

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population

artículo científico publicado en 2013

LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS

artículo científico publicado en 2020

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa ⬇️

artículo científico publicado el 15 de diciembre de 2010

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

artículo científico publicado en 2018

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2018

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

scientific journal article

Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma ⬇️

artículo científico publicado el 25 de abril de 2012

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

artículo científico publicado en 2019

The association of glutathione S-transferase GSTT1 and GSTM1 gene polymorphism with pseudoexfoliative glaucoma in a Pakistani population ⬇️

artículo científico publicado el 26 de octubre de 2010

The molecular basis of retinal dystrophies in pakistan.

artículo científico publicado en 2014

Variants in the PRPF8 Gene are Associated with Glaucoma.

artículo científico publicado en 2017

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome

artículo científico publicado en 2015

XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population ⬇️

artículo científico publicado el 4 de mayo de 2011

Lista de obras de

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

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma.

CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa ⬇️

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

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

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome ⬇️

Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan ⬇️

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

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

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ⬇️

Identification of Novel Mutations in Pakistani Families With Autosomal Recessive Retinitis Pigmentosa ⬇️

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

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

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome ⬇️

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa ⬇️

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population

LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa ⬇️

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

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

Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma ⬇️

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

The association of glutathione S-transferase GSTT1 and GSTM1 gene polymorphism with pseudoexfoliative glaucoma in a Pakistani population ⬇️

The molecular basis of retinal dystrophies in pakistan.

Variants in the PRPF8 Gene are Associated with Glaucoma.

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome

XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population ⬇️