S. Micheal

发表

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

A. D. den Hollander, F. Cremers, H. Venselaar, 2012, Molecular vision.

Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

A. D. den Hollander, F. Cremers, N. Waheed, 2015, PloS one.

Mutation analysis of circadian clock gene BMAL1 in 21 Pakistani congenital cataract families

A. Bergen, S. Siddiqui, M. Khan, 2019 .

Analysis of Circadian Clock Gene BMAL1 in Pakistani Congenital Cataract Families

A. Bergen, S. Siddiqui, M. Khan, 2018 .

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

Sarah C. Nelson, U. Thorsteinsdóttir, M. Nöthen, 2017, Nature Genetics.

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

Hanka Venselaar, Raheel Qamar, Saemah Nuzhat Zafar, 2015, neurogenetics.

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

A. Bergen, N. Jansonius, S. Siddiqui, 2020, Molecular genetics & genomic medicine.

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

A. D. den Hollander, F. Cremers, L. Hoefsloot, 2013, Clinical genetics.

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

A. D. den Hollander, F. Cremers, N. Qureshi, 2010, Molecular vision.

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

A. Bergen, S. Siddiqui, M. Khan, 2018, Genes.

Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population

A. D. den Hollander, R. Qamar, M. Khan, 2013, Molecular vision.

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

A. I. Hollander, R. Qamar, M. Khan, 2015, Clinical & experimental ophthalmology.

Analysis of single nucleotide polymorphisms in the SFRS3 and FKBP4 genes in corticosteroid-induced ocular hypertension

A. D. den Hollander, C. Hoyng, S. Micheal, 2012, Ophthalmic genetics.

Association of a Polymorphism in the BIRC6 Gene with Pseudoexfoliative Glaucoma

A. D. den Hollander, N. Waheed, R. Qamar, 2014, PloS one.

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

A. D. den Hollander, R. Qamar, M. Khan, 2012, Molecular vision.

Association of tumor necrosis factor alpha gene polymorphism G-308A with pseudoexfoliative glaucoma in the Pakistani population

A. D. den Hollander, R. Qamar, M. Khan, 2009, Molecular vision.

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia

A. D. den Hollander, R. Koenekoop, S. Micheal, 2014, BMC Medical Genetics.

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

A. D. den Hollander, N. Waheed, M. Riaz, 2011, Molecular vision.

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

Silvio Alessandro Di Gioia, Y. Arsenijévic, R. Roepman, 2016, American journal of human genetics.

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

A. D. den Hollander, S. Siddiqui, M. Khan, 2016, PloS one.

Genetics of glaucoma

S. Roosing, S. Micheal, Bjorn Bakker, 2018 .

Exome sequencing identifies a novel and a recurrent BBS 1 mutation in Pakistani families with Bardet-Biedl syndrome

F. Cremers, C. Gilissen, K. Neveling, 2017 .

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

F. Cremers, Ahmed Sadeque, C. Gilissen, 2013, Molecular vision.

Glaucoma Genetics in Pakistan

T. Aung, C. Khor, A. I. Hollander, 2021 .

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

A. D. den Hollander, S. Siddiqui, M. Khan, 2016, PloS one.

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

B. Mirza, S. Siddiqi, R. Qamar, 2019, Personalized medicine.

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

S. R. Krishnadas, Chaw Chaw Khaing, Y. Teo, 2016, Nature Genetics.

Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts

A. D. den Hollander, R. Qamar, M. Ajmal, 2010, Molecular vision.

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

A. D. den Hollander, C. Hoyng, Nicole T. M. Saksens, 2017, Molecular Neurobiology.

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

R. Qamar, M. Khan, S. Micheal, 2010, Molecular vision.

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

A. D. den Hollander, M. Weiss, R. Qamar, 2012, Molecular vision.

Association of ABO blood groups with glaucoma in the Pakistani population.

R. Qamar, M. Khan, S. Micheal, 2009, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Analyses of Sequence Variants in the MYOC Gene and of Single Nucleotide Polymorphisms in the NR3C1 and FKBP5 Genes in Corticosteroid-Induced Ocular Hypertension

A. D. den Hollander, C. Hoyng, S. Micheal, 2015, Ophthalmic genetics.

MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma

R. Qamar, M. Khan, S. Micheal, 2009, Molecular vision.

Variants in the PRPF8 Gene are Associated with Glaucoma

A. D. den Hollander, C. Hoyng, R. Qamar, 2017, Molecular Neurobiology.

Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts

A. D. den Hollander, R. Qamar, M. Khan, 2014, Molecular vision.

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome

A. D. den Hollander, B. Loeys, R. Qamar, 2016, Cornea.

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

A. Bergen, S. Siddiqui, M. Khan, 2019, Cornea.