Abdullah U - Search Results

1

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium; Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G. Iqbal M, et al. Among authors: abdullah u. Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4. Epub 2021 Jul 9. Genet Med. 2021. PMID: 34244665 Free PMC article.

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

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

Abdullah U, Farooq M, Mang Y, Marriam Bakhtiar S, Fatima A, Hansen L, Kjaer KW, Larsen LA, Faryal S, Tommerup N, Mahmood Baig S. Abdullah U, et al. Eur J Med Genet. 2017 Dec;60(12):627-630. doi: 10.1016/j.ejmg.2017.07.017. Epub 2017 Aug 2. Eur J Med Genet. 2017. PMID: 28778786

5

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

6

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.

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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