Baig SM - Search Results

1

A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.

Yousaf H, Rehmat S, Jameel M, Ibrahim R, Hashmi SN, Makhdoom EUH, Iwaszkiewicz J, Saadi SM, Tariq M, Baig SM, Toft M, Fatima A, Iqbal Z. Yousaf H, et al. Among authors: baig sm. Clin Genet. 2023 Sep;104(3):324-333. doi: 10.1111/cge.14386. Epub 2023 Jun 15. Clin Genet. 2023. PMID: 37317634

2

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

Rasool M, Schuster J, Aslam M, Tariq M, Ahmad I, Ali A, Entesarian M, Dahl N, Baig SM. Rasool M, et al. Among authors: baig sm. J Hum Genet. 2008;53(10):894-898. doi: 10.1007/s10038-008-0323-x. Epub 2008 Aug 9. J Hum Genet. 2008. PMID: 18688569

3

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N. Nawaz S, et al. Among authors: baig sm. Eur J Hum Genet. 2009 Dec;17(12):1600-5. doi: 10.1038/ejhg.2009.81. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471313 Free PMC article.

4

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J. Nawaz S, et al. Among authors: baig sm. Eur J Dermatol. 2012 Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638. Eur J Dermatol. 2012. PMID: 22257947

5

A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.

Azhar A, Tariq M, Baig SM, Dahl N, Klar J. Azhar A, et al. Among authors: baig sm. Eur J Dermatol. 2012 Jul-Aug;22(4):464-6. doi: 10.1684/ejd.2012.1731. Eur J Dermatol. 2012. PMID: 22531990

6

Genetic heterogeneity in Pakistani microcephaly families.

Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L. Sajid Hussain M, et al. Among authors: baig sm. Clin Genet. 2013 May;83(5):446-51. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7. Clin Genet. 2013. PMID: 22775483

7

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.

Tariq M, Azhar A, Baig SM, Dahl N, Klar J. Tariq M, et al. Among authors: baig sm. Sci Rep. 2012;2:730. doi: 10.1038/srep00730. Epub 2012 Oct 12. Sci Rep. 2012. PMID: 23066499 Free PMC article.

8

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

Khan TN, Klar J, Nawaz S, Jameel M, Tariq M, Malik NA, Baig SM, Dahl N. Khan TN, et al. Among authors: baig sm. BMC Med Genet. 2012 Dec 13;13:120. doi: 10.1186/1471-2350-13-120. BMC Med Genet. 2012. PMID: 23234511 Free PMC article.

9

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA. Hussain MS, et al. Among authors: baig sm. Hum Mol Genet. 2013 Dec 20;22(25):5199-214. doi: 10.1093/hmg/ddt374. Epub 2013 Aug 4. Hum Mol Genet. 2013. PMID: 23918663

10

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

Khan TN, Klar J, Tariq M, Anjum Baig S, Malik NA, Yousaf R, Baig SM, Dahl N. Khan TN, et al. Among authors: baig sm. Eur J Hum Genet. 2014 Oct;22(10):1180-4. doi: 10.1038/ejhg.2014.5. Epub 2014 Jan 29. Eur J Hum Genet. 2014. PMID: 24473461 Free PMC article.

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