Ramzan K - Search Results

1

Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.

Umair M, Wasif N, Albalawi AM, Ramzan K, Alfadhel M, Ahmad W, Basit S. Umair M, et al. Among authors: ramzan k. Mol Genet Genomic Med. 2019 Jul;7(7):e00627. doi: 10.1002/mgg3.627. Epub 2019 May 21. Mol Genet Genomic Med. 2019. PMID: 31115189 Free PMC article.

2

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A. AlAsiri S, et al. Among authors: ramzan k. J Clin Invest. 2015 Jan;125(1):258-62. doi: 10.1172/JCI78473. Epub 2014 Dec 1. J Clin Invest. 2015. PMID: 25437880 Free PMC article.

3

Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2.

Jan A, Basit S, Wakil SM, Ramzan K, Ahmad W. Jan A, et al. Among authors: ramzan k. J Dermatol Sci. 2015 Aug;79(2):173-5. doi: 10.1016/j.jdermsci.2015.04.012. Epub 2015 May 6. J Dermatol Sci. 2015. PMID: 25999149 No abstract available.

4

A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.

Jan A, Basit S, Wakil SM, Ramzan K, Ahmad W. Jan A, et al. Among authors: ramzan k. Arch Dermatol Res. 2015 Nov;307(9):793-801. doi: 10.1007/s00403-015-1590-y. Epub 2015 Jul 7. Arch Dermatol Res. 2015. PMID: 26148547

5

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. Among authors: ramzan k. 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

6

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.

Ahmad F, Ali RH, Muhammad D, Nasir A, Umair M, Wakil SM, Ramzan K, Basit S, Ahmad W. Ahmad F, et al. Among authors: ramzan k. Eur J Dermatol. 2016 Dec 1;26(6):610-612. doi: 10.1684/ejd.2016.2848. Eur J Dermatol. 2016. PMID: 27456782 No abstract available.

7

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.

Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S. Hashmi JA, et al. Among authors: ramzan k. Ann Saudi Med. 2016 Nov-Dec;36(6):391-396. doi: 10.5144/0256-4947.2016.391. Ann Saudi Med. 2016. PMID: 27920410 Free PMC article.

8

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.

Alharby E, Albalawi AM, Nasir A, Alhijji SA, Mahmood A, Ramzan K, Abdusamad F, Aljohani A, Abdelsalam O, Eldardear A, Basit S. Alharby E, et al. Among authors: ramzan k. Clin Genet. 2017 Dec;92(6):579-586. doi: 10.1111/cge.13051. Epub 2017 Sep 15. Clin Genet. 2017. PMID: 28542722

9

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.

Khan AK, Muhammad N, Khan SA, Ullah W, Nasir A, Afzal S, Ramzan K, Basit S, Khan S. Khan AK, et al. Among authors: ramzan k. Ann Hum Genet. 2018 May;82(3):171-176. doi: 10.1111/ahg.12239. Epub 2017 Dec 28. Ann Hum Genet. 2018. PMID: 29282707

10

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.

Ijaz A, Basit S, Gul A, Batool L, Hussain A, Afzal S, Ramzan K, Ahmad J, Wali A. Ijaz A, et al. Among authors: ramzan k. Congenit Anom (Kyoto). 2019 Jan;59(1):18-21. doi: 10.1111/cga.12281. Epub 2018 Apr 15. Congenit Anom (Kyoto). 2019. PMID: 29569758

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