Admin – Page 4 – Raheel Qamar

May 18, 2021

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

Ajmal, M, Khan, M.I., Micheal, S., Ahmed, W., Shah, A., Venselaar, H., Bokhari, H., Azam, A., Waheed, N.K., Collin, R.W.J, den Hollander, A.I., Qamar, R., Cremers, F.P.M. Molecular Vision,18:1226-1237 (2012)

May 18, 2021

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

Micheal, S., Khan, M.I., Akhtar, F., Ali, M., Ahmed, A. den Hollander, A.I., and Qamar, R. Molecular Vision, 18:1040-1044 (2012).

Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.

Ahmed W, Ajmal M, Sadeque A, Whittall, R.A., Rafiq, S., Putt, W., Khawaja, A., Imtiaz, F., Ahmed N., Azam, M., Humphries, S.E. and Qamar R. Molecular Biology Reports, 39:7365-7372 (2012).

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

Shaiq, P. A., Klausegger, A., Muzzaffar, F., Latif, A., Bauer, J. W., Imran, M., Khanum, A., Qamar R. and Raja G. K. The Journal of Dermatology, 39:640-641 (2012).

Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family.

Shaiq, P. A., Klausegger, A., Bauer, J. W., Azam, M., Raja G. K. and Qamar R. The Journal of Dermatology 39:472-474 (2012).

May 18, 2021

Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.

Azam, M., Collin, R.W.J., Malik, A., Khan, M.I., Shah, S.T.A., Shah, A.A., Hussain, A., Sadeque, A., Kntar Arimadyo, K., Ajmal, M., Azam, A., Qureshi, N., Bokhari, H., Strom, T.M., Cremers, F.P.M., Qamar, R. and den Hollander, A.I. Archives of Ophthalmology, 129:1377-1378 (2011)

The development of computational biology in Pakistan: still a long way to go.

Ilyas, M., Sadique, S., Masood, K., Qamar, R. and Chohan, S.N. PLoS Computational Biology, 7:e1001135, (2011).

May 18, 2021

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

Yousaf, S., Imran, M., Michael, S., Akhter, F., Ali, S.H.B., Riaz, M., Ali, M., Lall, P., Waheed, N.K., den Hollander, A.I., Ahmed, A. and Qamar, R. Molecular Vision, 17:1153-1163 (2011).

May 18, 2021

A novel pathogenic nonsense triple-nucleotide mutation in the Low-Density Lipoprotein Receptor gene and its clinical correlation with Familial Hypercholesterolemia.

Akhter N., Sadeque A., Khalid A., Ali S.H.B., Ahmed N., Azam, M. andQamar R. Genetic Testing and Molecular Biomarkers,15:601-606 (2011).

CLRN1 mutations cause non-syndromic retinitis pigmentosa.

Khan, M.I., Kersten, F.F.J., Azam, M., Collin, R.W.J., Hussain, A., Shah, S.T.A., Keunen, J.E.E., Kremer, H., Cremers, F.P.M., Qamar R., and den Hollander, A.I. Ophthalmology, 7:1444-1448, (2011).

Author: Admin