Rehman A - Search Results

1

New variants and in silico analyses in GRK1 associated Oguchi disease.

Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium; De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF. Poulter JA, et al. Among authors: rehman a, rehman au. Hum Mutat. 2021 Feb;42(2):164-176. doi: 10.1002/humu.24140. Epub 2020 Nov 30. Hum Mutat. 2021. PMID: 33252155 Free PMC article.

2

Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.

Rehman AU, Peter VG, Quinodoz M, Dawood M, Rivolta C. Rehman AU, et al. Clin Dysmorphol. 2020 Apr;29(2):86-89. doi: 10.1097/MCD.0000000000000299. Clin Dysmorphol. 2020. PMID: 31634165

3

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.

Rehman AU, Peter VG, Quinodoz M, Rashid A, Khan SA, Superti-Furga A, Rivolta C. Rehman AU, et al. Genes (Basel). 2019 Dec 21;11(1):12. doi: 10.3390/genes11010012. Genes (Basel). 2019. PMID: 31877759 Free PMC article.

4

Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome.

Panagiotou ES, Papathomas T, Nikopoulos K, Koukoula S, Quinodoz M, Rehman AU, Giannopoulos T, Rivolta C, Konstas AG. Panagiotou ES, et al. Ophthalmol Ther. 2020 Sep;9(3):677-684. doi: 10.1007/s40123-020-00276-4. Epub 2020 Jun 21. Ophthalmol Ther. 2020. PMID: 32566994 Free PMC article.

5

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.

Rehman AU, Sepahi N, Bedoni N, Ravesh Z, Salmaninejad A, Cancellieri F, Peter VG, Quinodoz M, Mojarrad M, Pasdar A, Asad AG, Ghalamkari S, Piran M, Piran M, Superti-Furga A, Rivolta C. Rehman AU, et al. Sci Rep. 2021 Sep 29;11(1):19332. doi: 10.1038/s41598-021-98677-3. Sci Rep. 2021. PMID: 34588515 Free PMC article.

6

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

Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C. Nikopoulos K, et al. Among authors: rehman au. Nat Commun. 2019 Jun 28;10(1):2884. doi: 10.1038/s41467-019-10746-4. Nat Commun. 2019. PMID: 31253780 Free PMC article.

7

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.

Aziz N, Ullah M, Rashid A, Hussain Z, Shah K, Awan A, Khan M, Ullah I, Rehman AU. Aziz N, et al. Among authors: rehman au. BMC Ophthalmol. 2023 Mar 23;23(1):116. doi: 10.1186/s12886-023-02845-0. BMC Ophthalmol. 2023. PMID: 36959549 Free PMC article.

8

TRANSITION IN CONSANGUINITY IN DIR LOWER DISTRICT, A VICTIM OF WAR, NATURAL DISASTER AND POPULATION DISPLACEMENT, IN NORTH-WEST PAKISTAN - A RESPONSE TO STHANADAR ET AL. (2015).

Rehman AU, Ahmad I, Zaman M, Malik S. Rehman AU, et al. J Biosoc Sci. 2016 May;48(3):421-6. doi: 10.1017/S0021932015000152. Epub 2015 Jun 15. J Biosoc Sci. 2016. PMID: 26075334 No abstract available.

9

Determinants of Consanguinity and Inbreeding Coefficient F in Dir Lower District, North-West Pakistan: A Multivariate Approach.

Ahmad I, Rehman AU, Malik S. Ahmad I, et al. Iran J Public Health. 2016 Apr;45(4):537-9. Iran J Public Health. 2016. PMID: 27252925 Free PMC article. No abstract available.

10

Frequencies of ABO and Rh (D) Blood Group Phenotypes in Pashtuns of North-Western Pakistan: A population undergoing huge demographic changes.

Rehman AU, Anwar I, Rashid A, Malik S. Rehman AU, et al. Int J Immunogenet. 2021 Aug;48(4):336-339. doi: 10.1111/iji.12536. Int J Immunogenet. 2021. PMID: 34236143 No abstract available.

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