Wakil SM - Search Results

1

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: wakil sm. 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

2

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF. Bohlega S, et al. Among authors: wakil sm. Neurology. 2004 May 11;62(9):1518-21. doi: 10.1212/01.wnl.0000123255.92062.37. Neurology. 2004. PMID: 15136674

3

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M. Alsmadi O, et al. Eur J Hum Genet. 2009 Jan;17(1):14-21. doi: 10.1038/ejhg.2008.141. Epub 2008 Aug 13. Eur J Hum Genet. 2009. PMID: 18701883 Free PMC article.

4

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.

Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B. Al-Owain M, et al. Clin Genet. 2011 Jul;80(1):50-8. doi: 10.1111/j.1399-0004.2010.01518.x. Epub 2010 Jul 22. Clin Genet. 2011. PMID: 20738328

5

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS. Khalak HG, et al. Among authors: wakil sm. Genet Med. 2012 May;14(5):515-9. doi: 10.1038/gim.2011.28. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241088 Free article.

6

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.

Wakil SM, Bohlega S, Hagos S, Baz B, Al Dossari H, Ramzan K, Al-Hassnan ZN. Wakil SM, et al. Eur J Med Genet. 2013 Jan;56(1):43-5. doi: 10.1016/j.ejmg.2012.10.003. Epub 2012 Oct 18. Eur J Med Genet. 2013. PMID: 23085305

7

Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

Wakil SM, Monies DM, Ramzan K, Hagos S, Bastaki L, Meyer BF, Bohlega S. Wakil SM, et al. Clin Genet. 2014 Nov;86(5):500-1. doi: 10.1111/cge.12312. Epub 2013 Nov 27. Clin Genet. 2014. PMID: 24283893 No abstract available.

8

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H, Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S. Wakil SM, et al. Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4. Gene. 2014. PMID: 24315819

9

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.

Wakil SM, Monies DM, Abouelhoda M, Al-Tassan N, Al-Dusery H, Naim EA, Al-Younes B, Shinwari J, Al-Mohanna FA, Meyer BF, Al-Mayouf S. Wakil SM, et al. Arthritis Rheumatol. 2015 Jan;67(1):288-95. doi: 10.1002/art.38877. Arthritis Rheumatol. 2015. PMID: 25220867

10

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: wakil sm. 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.

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