Khan TN - 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. 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

β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan.

Mahmood Baig S, Sabih D, Rahim MK, Azhar A, Tariq M, Sajid Hussain M, Saqlan Naqvi SM, Raja GK, Khan TN, Jameel M, Iram Z, Noor S, Baig UR, Qureshi JA, Baig SA, Bakhtiar SM. Mahmood Baig S, et al. Among authors: khan tn. J Pediatr Hematol Oncol. 2012 Mar;34(2):90-2. doi: 10.1097/MPH.0b013e31823752f3. J Pediatr Hematol Oncol. 2012. PMID: 22258353

3

Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.

Khan TN, Klar J, Ali Z, Khan F, Baig SM, Dahl N. Khan TN, et al. Among authors: khan f. Eur J Med Genet. 2013 Jul;56(7):371-4. doi: 10.1016/j.ejmg.2013.04.007. Epub 2013 May 7. Eur J Med Genet. 2013. PMID: 23664847

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: khan tn. 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. 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: khan tn. 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

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

Schuster J, Khan TN, Tariq M, Shaiq PA, Mäbert K, Baig SM, Klar J. Schuster J, et al. Among authors: khan tn. BMC Med Genet. 2014 Jun 24;15:71. doi: 10.1186/1471-2350-15-71. BMC Med Genet. 2014. PMID: 24961962 Free PMC article.

8

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.

Klar J, Schuster J, Khan TN, Jameel M, Mäbert K, Forsberg L, Baig SA, Baig SM, Dahl N. Klar J, et al. Among authors: khan tn. J Med Genet. 2015 Sep;52(9):599-606. doi: 10.1136/jmedgenet-2014-102931. Epub 2015 Jul 3. J Med Genet. 2015. PMID: 26142438

9

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.

Tariq M, Khan TN, Lundin L, Jameel M, Lönnerholm T, Baig SM, Dahl N, Klar J. Tariq M, et al. Among authors: khan tn. Clin Genet. 2018 Jan;93(1):182-186. doi: 10.1111/cge.13091. Epub 2017 Nov 21. Clin Genet. 2018. PMID: 28685811

10

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.

Baig SM, Fatima A, Tariq M, Khan TN, Ali Z, Faheem M, Mahmood H, Killela P, Waitkus M, He Y, Zhao F, Wang S, Jiao Y, Yan H. Baig SM, et al. Among authors: khan tn. Fam Cancer. 2019 Apr;18(2):261-265. doi: 10.1007/s10689-018-0112-4. Fam Cancer. 2019. PMID: 30478739

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