Abbas S - Search Results

1

Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

Kaufmann L, Pilic J, Auinger L, Mayer AL, Blatterer J, Semmler-Bruckner J, Abbas S, Rehman K, Ayaz M, Graier WF, Malli R, Petek E, Wagner K, Al Kaissi A, Khan MA, Windpassinger C. Kaufmann L, et al. Among authors: abbas s. Clin Genet. 2023 Oct;104(4):491-496. doi: 10.1111/cge.14381. Epub 2023 Jun 4. Clin Genet. 2023. PMID: 37270786

2

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.

Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, Khan S, Badar M, Mohammad RM, Nawaz Z. Khan MA, et al. Among authors: abbas s. J Genet. 2017 Jun;96(2):383-387. doi: 10.1007/s12041-017-0759-x. J Genet. 2017. PMID: 28674240

3

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A, Abbas S, Badar M, Abbasi AA, Khan MA, Windpassinger C. Muzammal M, et al. Among authors: abbas s. Mol Genet Genomic Med. 2019 Aug;7(8):e834. doi: 10.1002/mgg3.834. Epub 2019 Jul 11. Mol Genet Genomic Med. 2019. PMID: 31294530 Free PMC article.

4

Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.

Ahmed J, Windpassinger C, Salim M, Wiener M, Petek E, Schaflinger E, Taj S, Hussain S, Abbas S, Abbas M, Younis I, Muhammad N, Khan S, Khan MA. Ahmed J, et al. Among authors: abbas m, abbas s. J Pak Med Assoc. 2019 Dec;69(12):1812-1816. doi: 10.5455/JPMA.300681. J Pak Med Assoc. 2019. PMID: 31853109

5

Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.

Abbas S, Brugger B, Zubair M, Gul S, Blatterer J, Wenninger J, Rehman K, Tatrai B, Khan MA, Windpassinger C. Abbas S, et al. Neurol Res. 2021 Feb;43(2):133-140. doi: 10.1080/01616412.2020.1831329. Epub 2020 Nov 27. Neurol Res. 2021. PMID: 33246395

6

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Ahmad S, Ali MZ, Abbasi SW, Abbas S, Ahmed I, Abbas S, Nawaz S, Ziab M, Ahmed I, Fakhro KA, Khan MA, Akil AA. Ahmad S, et al. Among authors: abbas s. Front Endocrinol (Lausanne). 2023 Mar 7;14:1066182. doi: 10.3389/fendo.2023.1066182. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36960394 Free PMC article.

7

First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.

Umair M, Ullah A, Abbas S, Ahmad F, Basit S, Ahmad W. Umair M, et al. Among authors: abbas s. Clin Genet. 2018 Mar;93(3):699-702. doi: 10.1111/cge.13152. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29023680

8

A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations.

Mustafa S, Abbas S, Mahmood A, Khan AZ, Zeb S, Khan A, Umair M. Mustafa S, et al. Among authors: abbas s. Clin Genet. 2023 Jul;104(1):142-144. doi: 10.1111/cge.14317. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36843358

9

SGCD Homozygous Nonsense Mutation (p.Arg97^∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.

Younus M, Ahmad F, Malik E, Bilal M, Kausar M, Abbas S, Shaheen S, Kakar MU, Alfadhel M, Umair M. Younus M, et al. Among authors: abbas s. Front Genet. 2019 Jan 23;9:727. doi: 10.3389/fgene.2018.00727. eCollection 2018. Front Genet. 2019. PMID: 30733730 Free PMC article.

10

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Hayat A, et al. Among authors: abbas s. Eur J Med Genet. 2020 Aug;63(8):103954. doi: 10.1016/j.ejmg.2020.103954. Epub 2020 May 13. Eur J Med Genet. 2020. PMID: 32413570

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