Hassan MJ - Search Results

1

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.

Khan S, Lin S, Harlalka GV, Ullah A, Shah K, Khalid S, Mehmood S, Hassan MJ, Ahmad W, Self JE, Crosby AH, Baple EL, Gul A. Khan S, et al. Among authors: hassan mj. Ann Hum Genet. 2019 Nov;83(6):477-482. doi: 10.1111/ahg.12336. Epub 2019 Jun 7. Ann Hum Genet. 2019. PMID: 31173343

2

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.

Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W. Gul A, et al. Among authors: hassan mj. J Hum Genet. 2006;51(9):760-764. doi: 10.1007/s10038-006-0017-1. Epub 2006 Aug 10. J Hum Genet. 2006. PMID: 16900296

3

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA. Ullah MI, et al. Among authors: hassan mj. BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x. BMC Med Genet. 2018. PMID: 29458334 Free PMC article.

4

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.

Khan K, Mehmood S, Liu C, Siddiqui M, Ahmad A, Faiz BY, Chioza BA, Baple EA, Ullah MI, Akram Z, Satti HS, Khan R, Harlalka GV, Jameel M, Akram T, Baig SM, Crosby AH, Hassan MJ, Zhang F, Davis EE, Khan TN. Khan K, et al. Among authors: hassan mj. Am J Med Genet A. 2022 Feb;188(2):498-508. doi: 10.1002/ajmg.a.62545. Epub 2021 Oct 25. Am J Med Genet A. 2022. PMID: 34697879

5

Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.

Gul A, Tariq M, Khan MN, Hassan MJ, Ali G, Ahmad W. Gul A, et al. Among authors: hassan mj. J Neurogenet. 2007 Jul-Sep;21(3):153-63. doi: 10.1080/01677060701508594. J Neurogenet. 2007. PMID: 17849285

6

A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.

Hassan MJ, Chishti MS, Jamal SM, Tariq M, Ahmad W. Hassan MJ, et al. Hum Genet. 2008 Feb;123(1):77-82. doi: 10.1007/s00439-007-0452-x. Epub 2007 Dec 11. Hum Genet. 2008. PMID: 18071751

7

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

Chishti MS, Lee K, McDonald ML, Hassan MJ, Ansar M, Ahmad W, Leal SM. Chishti MS, et al. Among authors: hassan mj. J Hum Genet. 2009 Mar;54(3):141-4. doi: 10.1038/jhg.2009.2. Epub 2009 Feb 20. J Hum Genet. 2009. PMID: 19229252 Free PMC article.

8

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: hassan mj. BMC Neurol. 2011 Oct 1;11:119. doi: 10.1186/1471-2377-11-119. BMC Neurol. 2011. PMID: 21961505 Free PMC article.

9

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Santos-Cortez RLP, et al. Among authors: hassan mj. Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22. Hum Genet. 2018. PMID: 30167849 Free PMC article.

10

A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

Wali A, John P, Gul A, Lee K, Chishti MS, Ali G, Hassan MJ, Leal SM, Ahmad W. Wali A, et al. Among authors: hassan mj. Clin Genet. 2006 Sep;70(3):233-9. doi: 10.1111/j.1399-0004.2006.00661.x. Clin Genet. 2006. PMID: 16922726 Free PMC article.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

124 results

Search Page