Basit S - Search Results

1

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Mumtaz S, Riaz HF, Touseef M, Basit S, Faiyaz Ul Haque M, Malik S. Mumtaz S, et al. Among authors: basit s. Pak J Med Sci. 2015 Nov-Dec;31(6):1542-4. doi: 10.12669/pjms.316.8115. Pak J Med Sci. 2015. PMID: 26870132 Free PMC article.

2

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

Basit S, Naqvi SK, Wasif N, Ali G, Ansar M, Ahmad W. Basit S, et al. BMC Med Genet. 2008 Nov 27;9:102. doi: 10.1186/1471-2350-9-102. BMC Med Genet. 2008. PMID: 19038017 Free PMC article.

3

Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome.

Sabir N, Iqbal Z, Aleem A, Awan T, Naeem T, Asad S, Tahir AH, Absar M, Hasanato RM, Basit S, Chishti MA, Faiyaz Ul-Haque M, Khalid AM, Sabar MF, Rasool M, Karim S, Khan M, Samreen B, Akram AM, Siddiqi MH, Shahzadi S, Shahbaz S, Ali AS, Mahmood A, Akram M, Saeed T, Saleem A, Mohsin D, Shah IH, Khalid M, Asif M, Iqbal M, Akhtar T. Sabir N, et al. Among authors: basit s. Asian Pac J Cancer Prev. 2012;13(7):3349-55. doi: 10.7314/apjcp.2012.13.7.3349. Asian Pac J Cancer Prev. 2012. PMID: 22994759 Free article.

4

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A. AlAsiri S, et al. Among authors: basit s. J Clin Invest. 2015 Jan;125(1):258-62. doi: 10.1172/JCI78473. Epub 2014 Dec 1. J Clin Invest. 2015. PMID: 25437880 Free PMC article.

5

Whole Genome Sequencing instead of Whole Exome Sequencing is required to identify the Genetic Causes of Polycystic Ovary Syndrome in Pakistani families.

Khan MJ, Nazli R, Ahmed J, Basit S. Khan MJ, et al. Among authors: basit s. Pak J Med Sci. 2018 May-Jun;34(3):540-545. doi: 10.12669/pjms.343.14644. Pak J Med Sci. 2018. PMID: 30034412 Free PMC article.

6

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.

Faiyaz-Ul-Haque M, Jamil M, Aslam M, Abalkhail H, Al-Dayel F, Basit S, Nawaz Z, Zaidi SHE. Faiyaz-Ul-Haque M, et al. Among authors: basit s. Cancer Genet. 2020 May;243:1-6. doi: 10.1016/j.cancergen.2020.02.006. Epub 2020 Mar 6. Cancer Genet. 2020. PMID: 32179488

7

A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.

Naqvi SF, Shabbir RMK, Tolun A, Basit S, Malik S. Naqvi SF, et al. Among authors: basit s. Genet Test Mol Biomarkers. 2022 Jan;26(1):37-42. doi: 10.1089/gtmb.2021.0231. Genet Test Mol Biomarkers. 2022. PMID: 35089071

8

Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M, Mubarak M, AbdulWahab A, AlRikabi AC, Alsaeed AH, Al-Otaiby M, Nawaz Z, Zaidi SHE, Basit S. Faiyaz-Ul-Haque M, et al. Among authors: basit s. J Cutan Pathol. 2022 Jul;49(7):618-622. doi: 10.1111/cup.14228. Epub 2022 Apr 10. J Cutan Pathol. 2022. PMID: 35302653

9

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.

Basit S, Iqbal Z, Umicevic-Mirkov M, Kamran Ul-Hassan Naqvi S, Coenen M, Ansar M, van Bokhoven H, Ahmad W. Basit S, et al. Arch Med Res. 2011 Feb;42(2):110-4. doi: 10.1016/j.arcmed.2011.04.006. Arch Med Res. 2011. PMID: 21565623

10

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.

Kousar R, Hassan MJ, Khan B, Basit S, Mahmood S, Mir A, Ahmad W, Ansar M. Kousar R, et al. Among authors: basit s. BMC Neurol. 2011 Oct 1;11:119. doi: 10.1186/1471-2377-11-119. BMC Neurol. 2011. PMID: 21961505 Free PMC article.

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