Literature DB >> 23134348

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

M I Khan, M Ajmal, S Micheal, M Azam, A Hussain, A Shahzad, H Venselaar, H Bokhari, I J de Wijs, L H Hoefsloot, N K Waheed, R W J Collin, A I den Hollander, R Qamar, F P M Cremers.   

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Year:  2012        PMID： 23134348     DOI： 10.1111/cge.12039

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.

Authors:  Muhammad Dawood; Siying Lin; Taj Ud Din; Irfan Ullah Shah; Niamat Khan; Abid Jan; Muhammad Marwan; Komal Sultan; Maha Nowshid; Raheel Tahir; Asif Naveed Ahmed; Muhammad Yasin; Emma L Baple; Andrew H Crosby; Shamim Saleha
Journal:  Int J Ophthalmol       Date:  2021-12-18       Impact factor: 1.779

Review 2.  Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Authors:  Anna M Siemiatkowska; Rob W J Collin; Anneke I den Hollander; Frans P M Cremers
Journal:  Cold Spring Harb Perspect Med       Date:  2014-06-17       Impact factor: 6.915

3.  Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Authors:  Muhammad Arif Nadeem Saqib; Konstantinos Nikopoulos; Ehsan Ullah; Falak Sher Khan; Jamila Iqbal; Rabia Bibi; Afeefa Jarral; Sundus Sajid; Koji M Nishiguchi; Giulia Venturini; Muhammad Ansar; Carlo Rivolta
Journal:  Sci Rep       Date:  2015-05-06       Impact factor: 4.379

4.  Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

Authors:  Maleeha Maria; Muhammad Ajmal; Maleeha Azam; Nadia Khalida Waheed; Sorath Noorani Siddiqui; Bilal Mustafa; Humaira Ayub; Liaqat Ali; Shakeel Ahmad; Shazia Micheal; Alamdar Hussain; Syed Tahir Abbas Shah; Syeda Hafiza Benish Ali; Waqas Ahmed; Yar Muhammad Khan; Anneke I den Hollander; Lonneke Haer-Wigman; Rob W J Collin; Muhammad Imran Khan; Raheel Qamar; Frans P M Cremers
Journal:  PLoS One       Date:  2015-03-16       Impact factor: 3.240

5.  A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.

Authors:  Takaaki Hayashi; Kei Mizobuchi; Shuhei Kameya; Kazutoshi Yoshitake; Takeshi Iwata; Tadashi Nakano
Journal:  Doc Ophthalmol       Date:  2021-02-21       Impact factor: 2.379

6.  The molecular basis of retinal dystrophies in pakistan.

Authors:  Muhammad Imran Khan; Maleeha Azam; Muhammad Ajmal; Rob W J Collin; Anneke I den Hollander; Frans P M Cremers; Raheel Qamar
Journal:  Genes (Basel)       Date:  2014-03-11       Impact factor: 4.096
  6 in total

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