Zaidi SH - Search Results

1

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.

Faiyaz-Ul-Haque M, Faqeih EA, Al-Zaidan H, Al-Shammary A, Zaidi SH. Faiyaz-Ul-Haque M, et al. Among authors: zaidi sh. J Bone Miner Metab. 2008;26(6):648-52. doi: 10.1007/s00774-008-0853-5. Epub 2008 Nov 1. J Bone Miner Metab. 2008. PMID: 18979166

2

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS. Faiyaz-Ul-Haque M, et al. Among authors: zaidi sh. Atherosclerosis. 2009 Apr;203(2):466-71. doi: 10.1016/j.atherosclerosis.2008.07.026. Epub 2008 Aug 5. Atherosclerosis. 2009. PMID: 18774132

3

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH. Faiyaz-Ul-Haque M, et al. Among authors: zaidi sh. Eur J Pediatr. 2009 Dec;168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4. Eur J Pediatr. 2009. PMID: 19259699

4

Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema.

Faiyaz-Ul-Haque M, Al-Gazlan S, Abalkhail HA, Al-Abdulatif A, Toulimat M, Peltekova I, Khaliq AM, Al-Dayel F, Zaidi SH. Faiyaz-Ul-Haque M, et al. Among authors: zaidi sh. Int Arch Allergy Immunol. 2010;151(2):149-54. doi: 10.1159/000236005. Epub 2009 Sep 15. Int Arch Allergy Immunol. 2010. PMID: 19752569

5

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.

Faiyaz-Ul-Haque M, Al-Jefri A, Al-Dayel F, Bhuiyan JA, Abalkhail HA, Al-Nounou R, Al-Abdullatif A, Pulicat MS, Gaafar A, Alaiya AA, Peltekova I, Zaidi SH. Faiyaz-Ul-Haque M, et al. Among authors: zaidi sh. Eur J Pediatr. 2010 Jun;169(6):661-6. doi: 10.1007/s00431-010-1150-6. Epub 2010 Feb 25. Eur J Pediatr. 2010. PMID: 20182745

6

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E, Jamil M, Saeed A, Amoudi MS, Kaya N, Abalkhail H, Al-Abdullatif A, Rashed M, Al-Owain M, Peltekova I, Zaidi SH. Faiyaz-Ul-Haque M, et al. Among authors: zaidi sh. Ann Saudi Med. 2014 Mar-Apr;34(2):107-14. doi: 10.5144/0256-4947.2014.107. Ann Saudi Med. 2014. PMID: 24894778 Free PMC article.

7

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

Faiyaz-Ul-Haque M, Bin-Abbas B, Al-Abdullatif A, Abdullah Abalkhail H, Toulimat M, Al-Gazlan S, Almutawa AM, Al-Sagheir A, Peltekova I, Al-Dayel F, Zaidi SH. Faiyaz-Ul-Haque M, et al. Among authors: zaidi sh. Clin Genet. 2009 Nov;76(5):431-40. doi: 10.1111/j.1399-0004.2009.01278.x. Epub 2009 Sep 15. Clin Genet. 2009. PMID: 19758376

8

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.

Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC. Faiyaz-Ul-Haque M, et al. Among authors: zaidi sh. Am J Med Genet. 2002 Jul 22;111(1):31-7. doi: 10.1002/ajmg.10501. Am J Med Genet. 2002. PMID: 12124730 Review.

9

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.

Faiyaz-Ul-Haque M, AlDhalaan W, AlAshwal A, Bin-Abbas BS, AlSagheir A, Alotaiby M, Rafiq Z, Zaidi SHE. Faiyaz-Ul-Haque M, et al. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):861-868. doi: 10.1515/jpem-2017-0312. J Pediatr Endocrinol Metab. 2018. PMID: 29949513 Free article.

10

Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients.

Faiyaz-Ul-Haque M, Al-Dayel F, Tulba A, Abalkhail H, Alhussaini H, Memon M, Bazarbashi S, Amin T, Satti MB, Peltekova I, Nawaz Z, Zaidi SH. Faiyaz-Ul-Haque M, et al. Among authors: zaidi sh. Asian Pac J Cancer Prev. 2018 Oct 26;19(10):2905-2910. doi: 10.22034/APJCP.2018.19.10.2905. Asian Pac J Cancer Prev. 2018. PMID: 30362320 Free PMC article.

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