Basit S - Search Results

1

A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa.

Ayub M, Xiong X, Anwer S, Altmüller J, Naeem M, Hassan N, Khan K, Motameny S, Khaliq S, Rehman FU, Uddin SA, Wali A, Betz R, Basit S. Ayub M, et al. Among authors: basit s. J Med Life. 2024 Sep;17(9):892-896. doi: 10.25122/jml-2024-0090. J Med Life. 2024. PMID: 39628969 Free PMC article.

2

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.

Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, Raza SI, Naveed AK, ullah Khan S, Azeem Z, Yasinzai M, Wali A, Ali G, Chishti MS, Ahmad W. Tariq M, et al. Among authors: basit s. Br J Dermatol. 2009 May;160(5):1006-10. doi: 10.1111/j.1365-2133.2009.09046.x. Epub 2009 Mar 9. Br J Dermatol. 2009. PMID: 19292720

3

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

Azeem Z, Naqvi SK, Ansar M, Wali A, Naveed AK, Ali G, Hassan MJ, Tariq M, Basit S, Ahmad W. Azeem Z, et al. Among authors: basit s. Arch Dermatol Res. 2009 Sep;301(8):625-9. doi: 10.1007/s00403-009-0975-1. Epub 2009 Jun 24. Arch Dermatol Res. 2009. PMID: 19551394

4

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W. Ayub M, et al. Among authors: basit s. Am J Hum Genet. 2009 Oct;85(4):515-20. doi: 10.1016/j.ajhg.2009.08.015. Epub 2009 Sep 17. Am J Hum Genet. 2009. PMID: 19765682 Free PMC article.

5

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Kousar R, Nawaz H, Khurshid M, Ali G, Khan SU, Mir H, Ayub M, Wali A, Ali N, Jelani M, Basit S, Ahmad W, Ansar M. Kousar R, et al. Among authors: basit s. J Child Neurol. 2010 Jun;25(6):715-20. doi: 10.1177/0883073809346850. Epub 2009 Oct 6. J Child Neurol. 2010. PMID: 19808985

6

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W. Basit S, et al. Clin Genet. 2011 Mar;79(3):273-81. doi: 10.1111/j.1399-0004.2010.01455.x. Clin Genet. 2011. PMID: 20528890

7

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.

Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W. Khan S, et al. Among authors: basit s. Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21. Clin Exp Dermatol. 2011. PMID: 21426374

8

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.

Azeem Z, Wasif N, Basit S, Razak S, Waheed RA, Islam A, Ayub M, Kafaitullah, Kamran-ul-hassan Naqvi S, Ali G, Ahmad W. Azeem Z, et al. Among authors: basit s. J Dermatol. 2011 Aug;38(8):755-60. doi: 10.1111/j.1346-8138.2010.01151.x. J Dermatol. 2011. PMID: 21919222

9

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.

10

Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis.

Ali RH, Mahmood S, Raza SI, Aziz A, Irfanullah, Naqvi SK, Wasif N, Ansar M, Ahmad W, Shah SH, Khan BT, Zaman Q, Gul A, Wali A, Ali G, Khan S, Khisroon M, Basit S. Ali RH, et al. Among authors: basit s. J Dermatol Sci. 2015 Dec;80(3):214-7. doi: 10.1016/j.jdermsci.2015.09.007. Epub 2015 Sep 28. J Dermatol Sci. 2015. PMID: 26481779 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

200 results

Search Page

Filters