Imtiaz F - Search Results

1

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.

Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M. Khalifa O, et al. Among authors: imtiaz f. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. J Med Genet. 2012. PMID: 22499343 No abstract available.

2

Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.

Al-Sayed M, Imtiaz F, Alsmadi OA, Rashed MS, Meyer BF. Al-Sayed M, et al. Among authors: imtiaz f. BMC Med Genet. 2006 Dec 16;7:86. doi: 10.1186/1471-2350-7-86. BMC Med Genet. 2006. PMID: 17173698 Free PMC article.

3

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.

Kaya N, Al-Owain M, Albakheet A, Colak D, Al-Odaib A, Imtiaz F, Coskun S, Al-Sayed M, Al-Hassnan Z, Al-Zaidan H, Meyer B, Ozand P. Kaya N, et al. Among authors: imtiaz f. Eur J Med Genet. 2008 Nov-Dec;51(6):558-65. doi: 10.1016/j.ejmg.2008.08.001. Epub 2008 Aug 26. Eur J Med Genet. 2008. PMID: 18790721

4

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

Kaya N, Imtiaz F, Colak D, Al-Sayed M, Al-Odaib A, Al-Zahrani F, Al-Mubarak BR, Al-Owain M, Al-Dhalaan H, Chedrawi A, Al-Hassnan Z, Coskun S, Sakati N, Ozand P, Meyer BF. Kaya N, et al. Among authors: imtiaz f. Genet Med. 2008 Sep;10(9):675-84. doi: 10.1097/gim.0b013e31818337a8. Genet Med. 2008. PMID: 18978679 Free article.

5

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS. Al-Hassnan ZN, et al. Among authors: imtiaz f. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S263-7. doi: 10.1007/s10545-010-9143-1. Epub 2010 Jun 22. J Inherit Metab Dis. 2010. PMID: 20567907

6

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Khalifa O, Imtiaz F, Al-Sakati N, Al-Manea K, Verloes A, Al-Owain M. Khalifa O, et al. Among authors: imtiaz f. Eur J Pediatr. 2011 Jan;170(1):121-6. doi: 10.1007/s00431-010-1298-0. Epub 2010 Sep 24. Eur J Pediatr. 2011. PMID: 20865280

7

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.

Imtiaz F, Taibah K, Ramzan K, Bin-Khamis G, Kennedy S, Al-Mubarak B, Trabzuni D, Allam R, Al-Mostafa A, Sogaty S, Al-Shaikh AH, Bamukhayyar SS, Meyer BF, Al-Owain M. Imtiaz F, et al. BMC Med Genet. 2011 Jul 4;12:91. doi: 10.1186/1471-2350-12-91. BMC Med Genet. 2011. PMID: 21726435 Free PMC article.

8

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Imtiaz F, Rashed MS, Al-Mubarak B, Allam R, El-Karaksy H, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Meyer BF, Al-Sayed M. Imtiaz F, et al. Mol Genet Metab. 2011 Dec;104(4):688-90. doi: 10.1016/j.ymgme.2011.06.019. Epub 2011 Jun 30. Mol Genet Metab. 2011. PMID: 21764616

9

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Imtiaz F, Taibah K, Bin-Khamis G, Kennedy S, Hemidan A, Al-Qahtani F, Tabbara K, Al Mubarak B, Ramzan K, Meyer BF, Al-Owain M. Imtiaz F, et al. Mol Vis. 2012;18:1885-94. Epub 2012 Jul 12. Mol Vis. 2012. PMID: 22876113 Free PMC article.

10

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Al-Hashmi N, Imtiaz F, Ramzan K, Faden M, Shuaib T, Al-Otaibi L, Al-Hemidan A, Al-Owain M. Al-Hashmi N, et al. Among authors: imtiaz f. Clin Dysmorphol. 2013 Jan;22(1):39-41. doi: 10.1097/MCD.0b013e32835c297e. Clin Dysmorphol. 2013. PMID: 23188137 No abstract available.

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