Basit S - Search Results

1

Genetics of clubfoot; recent progress and future perspectives.

Basit S, Khoshhal KI. Basit S, et al. Eur J Med Genet. 2018 Feb;61(2):107-113. doi: 10.1016/j.ejmg.2017.09.006. Epub 2017 Sep 14. Eur J Med Genet. 2018. PMID: 28919208 Review.

2

A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.

Abdullah, Shah PW, Nawaz S, Hussain S, Ullah A, Basit S, Ahmad W. Abdullah, et al. Among authors: basit s. Mol Biol Rep. 2020 Sep;47(9):7083-7088. doi: 10.1007/s11033-020-05774-z. Epub 2020 Sep 4. Mol Biol Rep. 2020. PMID: 32886330

3

A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.

Almatrafi A, Umair M, Eldardear A, Al-Luqmani M, Hashmi JA, Albalawi AM, Alfadhel M, Ramzan K, Basit S. Almatrafi A, et al. Among authors: basit s. J Gene Med. 2020 Aug;22(8):e3196. doi: 10.1002/jgm.3196. Epub 2020 Apr 16. J Gene Med. 2020. PMID: 32246862

4

Genetics of human isolated hereditary hair loss disorders.

Basit S, Khan S, Ahmad W. Basit S, et al. Clin Genet. 2015 Sep;88(3):203-12. doi: 10.1111/cge.12531. Epub 2014 Nov 22. Clin Genet. 2015. PMID: 25350920 Review.

5

A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.

Basit S, Malibari O, Al Balwi AM, Abdusamad F, Abu Ismail F. Basit S, et al. Ann Saudi Med. 2014 Sep-Oct;34(5):390-5. doi: 10.5144/0256-4947.2014.390. Ann Saudi Med. 2014. PMID: 25827695 Free PMC article.

6

Genetics of human isolated hereditary nail disorders.

Khan S, Basit S, Habib R, Kamal A, Muhammad N, Ahmad W. Khan S, et al. Among authors: basit s. Br J Dermatol. 2015 Oct;173(4):922-9. doi: 10.1111/bjd.14023. Epub 2015 Sep 8. Br J Dermatol. 2015. PMID: 26149975 Review.

7

Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.

Basit S, Malibari OI, Al-Balawi AM, Afzal S, Eldardear AE, Ramzan K. Basit S, et al. Am J Med Genet A. 2016 Jan;170A(1):87-93. doi: 10.1002/ajmg.a.37372. Epub 2015 Sep 11. Am J Med Genet A. 2016. PMID: 26358363

8

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.

Umair M, Hassan A, Jan A, Ahmad F, Imran M, Samman MI, Basit S, Ahmad W. Umair M, et al. Among authors: basit s. J Hum Genet. 2016 Mar;61(3):207-13. doi: 10.1038/jhg.2015.129. Epub 2015 Nov 5. J Hum Genet. 2016. PMID: 26538303

9

Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.

Basit S, Hannan MA, Khoshhal KI. Basit S, et al. Clin Genet. 2016 Jul;90(1):16-20. doi: 10.1111/cge.12755. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26842108 Review.

10

Genetics of human isolated acromesomelic dysplasia.

Khan S, Basit S, Khan MA, Muhammad N, Ahmad W. Khan S, et al. Among authors: basit s. Eur J Med Genet. 2016 Apr;59(4):198-203. doi: 10.1016/j.ejmg.2016.02.011. Epub 2016 Feb 27. Eur J Med Genet. 2016. PMID: 26926249 Review.

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