Imtiaz F - Search Results

1

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G. Schollen E, et al. Among authors: imtiaz f. Hum Mutat. 2000 Sep;16(3):247-52. doi: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10980531 Review.

2

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B. Imtiaz F, et al. J Inherit Metab Dis. 2000 Mar;23(2):162-74. doi: 10.1023/a:1005669900330. J Inherit Metab Dis. 2000. PMID: 10801058 Clinical Trial.

3

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B. Matthijs G, et al. Among authors: imtiaz f. Hum Mutat. 2000 Nov;16(5):386-94. doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 11058895

4

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.

Hendriksz CJ, McClean P, Henderson MJ, Keir DG, Worthington VC, Imtiaz F, Schollen E, Matthijs G, Winchester BG. Hendriksz CJ, et al. Among authors: imtiaz f. Arch Dis Child. 2001 Oct;85(4):339-40. doi: 10.1136/adc.85.4.339. Arch Dis Child. 2001. PMID: 11567948 Free PMC article.

5

Molecular characterization of novel splice site mutation causing protein C deficiency.

Al-Hamed MH, AlBatniji F, AlDakheel GA, El-Faraidi H, Al-Zahrani A, Al-Abbass F, Imtiaz F. Al-Hamed MH, et al. Among authors: imtiaz f. Blood Coagul Fibrinolysis. 2016 Jul;27(5):585-8. doi: 10.1097/MBC.0000000000000490. Blood Coagul Fibrinolysis. 2016. PMID: 26656900

6

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.

7

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.

Imtiaz F, Al-Mostafa A, Al-Hassnan ZN. Imtiaz F, et al. JIMD Rep. 2012;2:107-11. doi: 10.1007/8904_2011_57. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430862 Free PMC article.

8

Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.

Ramzan K, Imtiaz F, Al-Ashgar HI, AlSayed M, Sulaiman RA. Ramzan K, et al. Among authors: imtiaz f. Eur J Med Genet. 2017 Jun;60(6):308-311. doi: 10.1016/j.ejmg.2017.03.011. Epub 2017 Mar 28. Eur J Med Genet. 2017. PMID: 28363629

9

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

10

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Ramzan K, Taibah K, Tahir AI, Al-Tassan N, Berhan A, Khater AM, Al-Hazzaa SA, Al-Owain M, Imtiaz F. Ramzan K, et al. Among authors: imtiaz f. Eur J Med Genet. 2014 May-Jun;57(6):253-8. doi: 10.1016/j.ejmg.2014.04.004. Epub 2014 Apr 21. Eur J Med Genet. 2014. PMID: 24768815

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