Naz S - Search Results

1

Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions.

Kanwal A, Sheikh SA, Aslam F, Yaseen S, Beetham Z, Pankratz N, Clabots CR, Naz S, Pardo JV. Kanwal A, et al. Among authors: naz s. Genes (Basel). 2023 Oct 9;14(10):1921. doi: 10.3390/genes14101921. Genes (Basel). 2023. PMID: 37895270 Free PMC article.

2

Ataxia and dysarthria due to an ABCA2 variant: Extension of the phenotypic spectrum.

Aslam F, Naz S. Aslam F, et al. Among authors: naz s. Parkinsonism Relat Disord. 2019 Jul;64:328-331. doi: 10.1016/j.parkreldis.2019.04.017. Epub 2019 Apr 25. Parkinsonism Relat Disord. 2019. PMID: 31047799

3

RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.

Kanwal A, Pardo JV, Naz S. Kanwal A, et al. Among authors: naz s. J Psychiatry Neurosci. 2022 Nov 1;47(6):E379-E390. doi: 10.1503/jpn.220070. Print 2022 Nov-Dec. J Psychiatry Neurosci. 2022. PMID: 36318984 Free PMC article.

4

Preliminary studies on apparent mendelian psychotic disorders in consanguineous families.

Kanwal A, Sheikh SA, Iftikhar A, Naz S, Pardo JV. Kanwal A, et al. Among authors: naz s. BMC Psychiatry. 2022 Nov 16;22(1):709. doi: 10.1186/s12888-022-04304-4. BMC Psychiatry. 2022. PMID: 36384485 Free PMC article.

5

Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma.

Yousaf K, Naz S, Mushtaq A, Wohler E, Sobreira N, Ho BM, Chen LJ, Chu WK, Bashir R. Yousaf K, et al. Among authors: naz s. Genes (Basel). 2023 Jan 25;14(2):310. doi: 10.3390/genes14020310. Genes (Basel). 2023. PMID: 36833236 Free PMC article.

6

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.

Arif B, Grünewald A, Fatima A, Ramirez A, Ali A, Brüggemann N, Würfel J, Rolfs A, Lohmann K, Malik A, Klein C, Naz S. Arif B, et al. Among authors: naz s. Mov Disord. 2011 Oct;26(12):2279-83. doi: 10.1002/mds.23860. Epub 2011 Sep 23. Mov Disord. 2011. PMID: 21953512

7

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.

Imtiaz A, Kohrman DC, Naz S. Imtiaz A, et al. Among authors: naz s. Hum Mutat. 2014 May;35(5):618-24. doi: 10.1002/humu.22545. Epub 2014 Apr 7. Hum Mutat. 2014. PMID: 24619944 Free PMC article.

8

Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant.

Ain NU, Makitie O, Naz S. Ain NU, et al. Among authors: naz s. J Med Genet. 2018 Jun;55(6):403-407. doi: 10.1136/jmedgenet-2017-104885. Epub 2017 Aug 22. J Med Genet. 2018. PMID: 28830906

9

Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families.

Bashir R, Yousaf K, Tahir H, Sanai M, Qayyum S, Naz S, Naz S. Bashir R, et al. Among authors: naz s. J Pak Med Assoc. 2018 Aug;68(8):1205-1211. J Pak Med Assoc. 2018. PMID: 30108387

10

RIN2 and BBS7 variants as cause of a coincidental syndrome.

Shaukat M, Ishaq T, Muhammad N, Naz S. Shaukat M, et al. Among authors: naz s. Eur J Med Genet. 2020 Mar;63(3):103755. doi: 10.1016/j.ejmg.2019.103755. Epub 2019 Sep 12. Eur J Med Genet. 2020. PMID: 31521835

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