Al Balwi MA - Search Results

1

A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.

Almuzzaini B, Alatwi NS, Alsaif S, Al Balwi MA. Almuzzaini B, et al. Among authors: al balwi ma. Mol Genet Genomic Med. 2020 Apr;8(4):e1135. doi: 10.1002/mgg3.1135. Epub 2020 Jan 28. Mol Genet Genomic Med. 2020. PMID: 31989799 Free PMC article. Review.

2

Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples.

AlSaif S, Ponferrada MB, AlKhairy K, AlTawil K, Sallam A, Ahmed I, Khawaji M, AlHathlol K, Baylon B, AlSuhaibani A, AlBalwi M. AlSaif S, et al. BMC Pediatr. 2017 Jul 11;17(1):159. doi: 10.1186/s12887-017-0912-y. BMC Pediatr. 2017. PMID: 28693459 Free PMC article.

3

Tetrasomy 18p: case report and review of literature.

Bawazeer S, Alshalan M, Alkhaldi A, AlAtwi N, AlBalwi M, Alswaid A, Alfadhel M. Bawazeer S, et al. Appl Clin Genet. 2018 Feb 8;11:9-14. doi: 10.2147/TACG.S153469. eCollection 2018. Appl Clin Genet. 2018. PMID: 29467581 Free PMC article.

4

Coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma with antecedent chronic lymphocytic leukemia: a case report and review of the literature.

Abuelgasim KA, Rehan H, Alsubaie M, Al Atwi N, Al Balwi M, Alshieban S, Almughairi A. Abuelgasim KA, et al. J Med Case Rep. 2018 Mar 11;12(1):64. doi: 10.1186/s13256-018-1612-4. J Med Case Rep. 2018. PMID: 29524963 Free PMC article. Review.

5

A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.

Al Ghamdi MA, Al-Qattan MM, Hadadi A, Alabdulrahman A, Almuzzaini B, Alatwi N, AlBalwi MA. Al Ghamdi MA, et al. Eur J Med Genet. 2020 Mar;63(3):103738. doi: 10.1016/j.ejmg.2019.103738. Epub 2019 Aug 14. Eur J Med Genet. 2020. PMID: 31421290

6

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.

Alfadhel M, Umair M, Almuzzaini B, Alsaif S, AlMohaimeed SA, Almashary MA, Alharbi W, Alayyar L, Alasiri A, Ballow M, AlAbdulrahman A, Alaujan M, Nashabat M, Al-Odaib A, Altwaijri W, Al-Rumayyan A, Alrifai MT, Alfares A, AlBalwi M, Tabarki B. Alfadhel M, et al. Ann Clin Transl Neurol. 2019 Oct;6(10):2097-2103. doi: 10.1002/acn3.50898. Epub 2019 Sep 26. Ann Clin Transl Neurol. 2019. PMID: 31557427 Free PMC article.

7

The effect of the VKORC1 promoter variant on warfarin responsiveness in the Saudi WArfarin Pharmacogenetic (SWAP) cohort.

Al Ammari M, AlBalwi M, Sultana K, Alabdulkareem IB, Almuzzaini B, Almakhlafi NS, Aldrees M, Alghamdi J. Al Ammari M, et al. Sci Rep. 2020 Jul 15;10(1):11613. doi: 10.1038/s41598-020-68519-9. Sci Rep. 2020. PMID: 32669629 Free PMC article.

8

Targeted next-generation sequencing of genes involved in Warfarin Pharmacodynamics and pharmacokinetics pathways using the Saudi Warfarin Pharmacogenetic study (SWAP).

Ammari MA, Almuzzaini B, Al Sulaiman K, AlBalwi M, Sultana K, Alabdulkareem IB, Almakhlafi NS, Humoud AA, Waheeby M, Balla M, Shehri AA, Alharf A, Alghamdi J. Ammari MA, et al. Pharmacogenomics J. 2023 Jul;23(4):82-88. doi: 10.1038/s41397-023-00300-3. Epub 2023 Feb 4. Pharmacogenomics J. 2023. PMID: 36739459

9

Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.

Al-Qattan MM, Al-Thunayan A, Alabdulkareem I, Al Balwi M. Al-Qattan MM, et al. Gene. 2013 Jul 15;524(1):65-71. doi: 10.1016/j.gene.2013.03.120. Epub 2013 Apr 12. Gene. 2013. PMID: 23587911

10

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.

Al-Qattan MM, Hadadi A, Al-Thunayan AM, Eldali AA, AlBalwi MA. Al-Qattan MM, et al. BMC Med Genet. 2018 Sep 4;19(1):158. doi: 10.1186/s12881-018-0672-z. BMC Med Genet. 2018. PMID: 30180809 Free PMC article.

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