Ayub M - Search Results

1

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: ayub m. J Child Neurol. 2010 Jun;25(6):715-20. doi: 10.1177/0883073809346850. Epub 2009 Oct 6. J Child Neurol. 2010. PMID: 19808985

2

A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia.

Tariq M, Wasif N, Ayub M, Ahmad W. Tariq M, et al. Among authors: ayub m. Eur J Dermatol. 2007 May-Jun;17(3):209-12. doi: 10.1684/ejd.2007.0150. Epub 2007 May 4. Eur J Dermatol. 2007. PMID: 17478381

3

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).

Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W. Azeem Z, et al. Among authors: ayub m. Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7. Hum Genet. 2008. PMID: 18461368

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. 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

A novel missense mutation in the ectodysplasin-A (EDA) gene underlies X-linked recessive nonsyndromic hypodontia.

Ayub M, ur-Rehman F, Yasinzai M, Ahmad W. Ayub M, et al. Int J Dermatol. 2010 Dec;49(12):1399-402. doi: 10.1111/j.1365-4632.2010.04596.x. Int J Dermatol. 2010. PMID: 21091672

6

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: ayub m. J Dermatol. 2011 Aug;38(8):755-60. doi: 10.1111/j.1346-8138.2010.01151.x. J Dermatol. 2011. PMID: 21919222

7

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Riazuddin S, et al. Among authors: ayub m. Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023331 Free PMC article.

8

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M. Mittal K, et al. Among authors: ayub m. J Hum Genet. 2016 Oct;61(10):867-872. doi: 10.1038/jhg.2016.62. Epub 2016 Jun 16. J Hum Genet. 2016. PMID: 27305979

9

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H. Fattahi Z, et al. Among authors: ayub m. Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220. Hum Mol Genet. 2018. PMID: 29893856

10

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.

Pastore SF, Muhammad T, Harripaul R, Lau R, Khan MTM, Khan MI, Islam O, Kang C, Ayub M, Jelani M, Vincent JB. Pastore SF, et al. Among authors: ayub m. Sci Rep. 2021 Nov 30;11(1):23113. doi: 10.1038/s41598-021-02599-z. Sci Rep. 2021. PMID: 34848785 Free PMC article.

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