Abdullah U - Search Results

1

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS. Kaygusuz E, et al. Among authors: abdullah u. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34270086

2

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.

Jameel M, Klar J, Tariq M, Moawia A, Altaf Malik N, Seema Waseem S, Abdullah U, Naeem Khan T, Raininko R, Baig SM, Dahl N. Jameel M, et al. Among authors: abdullah u. BMC Med Genet. 2014 Dec 14;15:133. doi: 10.1186/s12881-014-0133-2. BMC Med Genet. 2014. PMID: 25496299 Free PMC article.

3

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.

Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, Waseem SS, Moawia A, Nürnberg G, Noegel AA, Baig SM, Nürnberg P. Szczepanski S, et al. Among authors: abdullah u. Hum Genet. 2016 Feb;135(2):157-70. doi: 10.1007/s00439-015-1619-5. Epub 2015 Nov 30. Hum Genet. 2016. PMID: 26621532

4

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS. Moawia A, et al. Among authors: abdullah u. Ann Neurol. 2017 Oct;82(4):562-577. doi: 10.1002/ana.25044. Epub 2017 Oct 14. Ann Neurol. 2017. PMID: 28892560

5

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

Abdullah U, Farooq M, Fatima A, Tauseef W, Sarwar Y, Nuri M, Tommerup N, Baig SM. Abdullah U, et al. Nephrology (Carlton). 2017 Oct;22(10):818-820. doi: 10.1111/nep.13097. Nephrology (Carlton). 2017. PMID: 28921755 Review.

6

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population.

Fatima A, Farooq M, Abdullah U, Tariq M, Mustafa T, Iqbal M, Tommerup N, Mahmood Baig S. Fatima A, et al. Among authors: abdullah u. Psychiatry Investig. 2017 Sep;14(5):687-692. doi: 10.4306/pi.2017.14.5.687. Epub 2017 Sep 11. Psychiatry Investig. 2017. PMID: 29042896 Free PMC article.

7

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Ali Z, Zulfiqar S, Klar J, Wikström J, Ullah F, Khan A, Abdullah U, Baig S, Dahl N. Ali Z, et al. Among authors: abdullah u. BMC Med Genet. 2017 Dec 6;18(1):144. doi: 10.1186/s12881-017-0504-6. BMC Med Genet. 2017. PMID: 29207948 Free PMC article.

8

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.

Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM. Sher M, et al. Among authors: abdullah u. Int J Neurosci. 2019 Sep;129(9):890-895. doi: 10.1080/00207454.2019.1586686. Epub 2019 Mar 20. Int J Neurosci. 2019. PMID: 30892110

9

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.

Zakaria M, Fatima A, Klar J, Wikström J, Abdullah U, Ali Z, Akram T, Tariq M, Ahmad H, Schuster J, Baig SM, Dahl N. Zakaria M, et al. Among authors: abdullah u. Hum Mutat. 2019 Jul;40(7):899-903. doi: 10.1002/humu.23755. Epub 2019 May 24. Hum Mutat. 2019. PMID: 30927481

10

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.

Zulfiqar S, Tariq M, Ali Z, Fatima A, Klar J, Abdullah U, Ali A, Ramzan S, He S, Zhang J, Khan A, Shah S, Khan S, Makhdoom EH, Schuster J, Dahl N, Baig SM. Zulfiqar S, et al. Among authors: abdullah u. J Clin Neurosci. 2019 Sep;67:19-23. doi: 10.1016/j.jocn.2019.06.039. Epub 2019 Jul 4. J Clin Neurosci. 2019. PMID: 31281085

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