Malik NA - Search Results

1

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

2

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.

Rehman Su, Baig SM, Eiberg H, Rehman Su, Ahmad I, Malik NA, Tommerup N, Hansen L. Rehman Su, et al. Among authors: malik na. Neurogenetics. 2011 Aug;12(3):247-51. doi: 10.1007/s10048-011-0286-5. Epub 2011 Jun 4. Neurogenetics. 2011. PMID: 21643797

3

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

4

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: malik na. 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

5

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: malik na. 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.

6

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N. Raykova D, et al. Among authors: malik na. PLoS One. 2014 Apr 8;9(4):e93607. doi: 10.1371/journal.pone.0093607. eCollection 2014. PLoS One. 2014. PMID: 24714551 Free PMC article.

7

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

Klar J, Hisatsune C, Baig SM, Tariq M, Johansson AC, Rasool M, Malik NA, Ameur A, Sugiura K, Feuk L, Mikoshiba K, Dahl N. Klar J, et al. Among authors: malik na. J Clin Invest. 2014 Nov;124(11):4773-80. doi: 10.1172/JCI70720. Epub 2014 Oct 20. J Clin Invest. 2014. PMID: 25329695 Free PMC article.

8

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.

Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, Müller R, Altmüller J, Budde B, Thiele H, Tariq M, Malik NA, Nürnberg P, Baig SM, Hussain MS, Noegel AA. Sukumaran SK, et al. Among authors: malik na. Mol Genet Genomics. 2017 Apr;292(2):365-383. doi: 10.1007/s00438-016-1277-x. Epub 2016 Dec 21. Mol Genet Genomics. 2017. PMID: 28004182 Free PMC article.

9

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS. Kaygusuz E, et al. Among authors: malik na. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34270086

10

Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population.

Khan NM, Hussain B, Zheng C, Khan A, Masoud MS, Gu Q, Qiu L, Malik NA, Qasim M, Tariq M, Chang J. Khan NM, et al. Among authors: malik na. Front Pediatr. 2021 Jul 6;9:695133. doi: 10.3389/fped.2021.695133. eCollection 2021. Front Pediatr. 2021. PMID: 34295862 Free PMC article.

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