Albalawi AM - Search Results

1

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.

Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S. Hashmi JA, et al. Among authors: albalawi am. Ann Saudi Med. 2016 Nov-Dec;36(6):391-396. doi: 10.5144/0256-4947.2016.391. Ann Saudi Med. 2016. PMID: 27920410 Free PMC article.

2

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI. Basit S, et al. Among authors: albalawi am. Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12. Hum Genet. 2016. PMID: 27519304

3

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.

Alharby E, Albalawi AM, Nasir A, Alhijji SA, Mahmood A, Ramzan K, Abdusamad F, Aljohani A, Abdelsalam O, Eldardear A, Basit S. Alharby E, et al. Among authors: albalawi am. Clin Genet. 2017 Dec;92(6):579-586. doi: 10.1111/cge.13051. Epub 2017 Sep 15. Clin Genet. 2017. PMID: 28542722

4

Angiotensin-converting enzyme gene insertion/deletion polymorphism in Saudi patients with rheumatic heart disease.

Al-Harbi KM, Almuzaini IS, Morsy MM, Abdelaziz NA, Al-Balawi AM, Abdallah AM. Al-Harbi KM, et al. Saudi Med J. 2015 Feb;36(2):176-80. doi: 10.15537/smj.2015.2.10267. Saudi Med J. 2015. PMID: 25719581 Free PMC article.

5

Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1.

Al-Barry MA, Albalawi AM, Sayf MA, Badawi A, Afzal S, Latif M, Samman MI, Basit S. Al-Barry MA, et al. Among authors: albalawi am. BMC Ophthalmol. 2016 Oct 4;16(1):172. doi: 10.1186/s12886-016-0354-6. BMC Ophthalmol. 2016. PMID: 27716192 Free PMC article.

6

High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.

AlAyadhi LY, Hashmi JA, Iqbal M, Albalawi AM, Samman MI, Elamin NE, Bashir S, Basit S. AlAyadhi LY, et al. Among authors: albalawi am. Neuroscience. 2016 Dec 17;339:561-570. doi: 10.1016/j.neuroscience.2016.10.030. Epub 2016 Oct 19. Neuroscience. 2016. PMID: 27771533

7

Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.

Basit S, Albalawi AM, Alharby E, Khoshhal KI. Basit S, et al. Among authors: albalawi am. BMC Med Genet. 2017 Mar 21;18(1):34. doi: 10.1186/s12881-017-0393-8. BMC Med Genet. 2017. PMID: 28327142 Free PMC article.

8

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.

Hashmi JA, Albarry MA, Almatrafi AM, Albalawi AM, Mahmood A, Basit S. Hashmi JA, et al. Among authors: albalawi am. Congenit Anom (Kyoto). 2018 Jan;58(1):10-15. doi: 10.1111/cga.12225. Epub 2017 May 28. Congenit Anom (Kyoto). 2018. PMID: 28419563

9

Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2.

Basit S, Alharby E, Albalawi AM, Khoshhal KI. Basit S, et al. Among authors: albalawi am. Congenit Anom (Kyoto). 2018 Mar;58(2):56-61. doi: 10.1111/cga.12235. Epub 2017 Aug 29. Congenit Anom (Kyoto). 2018. PMID: 28693051

10

Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome.

Hashmi JA, Safar RA, Afzal S, Albalawi AM, Abdu-Samad F, Iqbal Z, Basit S. Hashmi JA, et al. Among authors: albalawi am. Mol Med Rep. 2018 Dec;18(6):5095-5100. doi: 10.3892/mmr.2018.9528. Epub 2018 Oct 2. Mol Med Rep. 2018. PMID: 30280192

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