Tariq M - Search Results

1

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.

Ramzan S, Tennstedt S, Tariq M, Khan S, Noor Ul Ayan H, Ali A, Munz M, Thiele H, Korejo AA, Mughal AR, Jamal SZ, Nürnberg P, Baig SM, Erdmann J, Ahmad I. Ramzan S, et al. Among authors: tariq m. Genes (Basel). 2021 Aug 21;12(8):1282. doi: 10.3390/genes12081282. Genes (Basel). 2021. PMID: 34440456 Free PMC article.

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: tariq m. 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: tariq m. 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

A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

Umm-E-Kalsoom, Wasif N, Tariq M, Ahmad W. Umm-E-Kalsoom, et al. Among authors: tariq m. Pediatr Int. 2010 Apr;52(2):240-6. doi: 10.1111/j.1442-200X.2009.02953.x. Epub 2009 Sep 7. Pediatr Int. 2010. PMID: 19744229

5

Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29.

Khan S, Muzaffar S, Tariq M, Khan A, Basit S, Ahmad W. Khan S, et al. Among authors: tariq m. Br J Dermatol. 2010 Oct;163(4):711-8. doi: 10.1111/j.1365-2133.2010.09881.x. Epub 2010 Jul 26. Br J Dermatol. 2010. PMID: 20518786

6

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: tariq m. Eur J Dermatol. 2012 Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638. Eur J Dermatol. 2012. PMID: 22257947

7

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: tariq m. Eur J Dermatol. 2012 Jul-Aug;22(4):464-6. doi: 10.1684/ejd.2012.1731. Eur J Dermatol. 2012. PMID: 22531990

8

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. Sci Rep. 2012;2:730. doi: 10.1038/srep00730. Epub 2012 Oct 12. Sci Rep. 2012. PMID: 23066499 Free PMC article.

9

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: tariq m. BMC Med Genet. 2012 Dec 13;13:120. doi: 10.1186/1471-2350-13-120. BMC Med Genet. 2012. PMID: 23234511 Free PMC article.

10

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: tariq m. 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

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