Al Shamsi A - Search Results

1

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

Ali A, Almesmari FSA, Dhahouri NA, Saleh Ali AM, Aldhanhani MAAMA, Vijayan R, Al Tenaiji A, Al Shamsi A, Hertecant J, Al Jasmi F. Ali A, et al. Among authors: al shamsi a, al jasmi f, al tenaiji a. Genes (Basel). 2021 Aug 27;12(9):1334. doi: 10.3390/genes12091334. Genes (Basel). 2021. PMID: 34573316 Free PMC article.

2

LINS, a modulator of the WNT signaling pathway, is involved in human cognition.

Akawi NA, Al-Jasmi F, Al-Shamsi AM, Ali BR, Al-Gazali L. Akawi NA, et al. Among authors: al gazali l, al shamsi am, al jasmi f. Orphanet J Rare Dis. 2013 Jun 17;8:87. doi: 10.1186/1750-1172-8-87. Orphanet J Rare Dis. 2013. PMID: 23773660 Free PMC article.

3

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Ben-Salem S, Hertecant J, Al-Shamsi AM, Ali BR, Al-Gazali L. Ben-Salem S, et al. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):764-9. doi: 10.1002/bdra.23170. Epub 2013 Sep 6. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24014090

4

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

Al-Shamsi A, Hertecant JL, Al-Hamad S, Souid AK, Al-Jasmi F. Al-Shamsi A, et al. Among authors: al hamad s, al jasmi f. Sultan Qaboos Univ Med J. 2014 Feb;14(1):e42-9. doi: 10.12816/0003335. Epub 2014 Jan 27. Sultan Qaboos Univ Med J. 2014. PMID: 24516753 Free PMC article.

5

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L. Ben-Salem S, et al. Metab Brain Dis. 2015 Jun;30(3):687-94. doi: 10.1007/s11011-014-9618-0. Epub 2014 Sep 17. Metab Brain Dis. 2015. PMID: 25227173 Free PMC article.

6

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

Al-Shamsi AM, Ben-Salem S, Hertecant J, Al-Jasmi F. Al-Shamsi AM, et al. Eur J Pediatr. 2015 May;174(5):661-8. doi: 10.1007/s00431-014-2449-5. Epub 2014 Nov 12. Eur J Pediatr. 2015. PMID: 25388407

7

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

Al-Jasmi FA, Al-Shamsi A, Hertecant JL, Al-Hamad SM, Souid AK. Al-Jasmi FA, et al. Among authors: al shamsi a, al hamad sm. JIMD Rep. 2016;28:127-135. doi: 10.1007/8904_2015_512. Epub 2015 Nov 21. JIMD Rep. 2016. PMID: 26589311 Free PMC article.

8

Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor.

Al-Shamsi A, Baker A, Dhawan A, Hertecant J. Al-Shamsi A, et al. JIMD Rep. 2016;30:59-62. doi: 10.1007/8904_2016_532. Epub 2016 Apr 28. JIMD Rep. 2016. PMID: 27117295 Free PMC article.

9

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Al-Shamsi A, Hertecant JL, Souid AK, Al-Jasmi FA. Al-Shamsi A, et al. Among authors: al jasmi fa. Orphanet J Rare Dis. 2016 Jul 8;11(1):94. doi: 10.1186/s13023-016-0474-3. Orphanet J Rare Dis. 2016. PMID: 27391121 Free PMC article.

10

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR. Eldomery MK, et al. Among authors: al shamsi a. Genome Med. 2016 Nov 1;8(1):106. doi: 10.1186/s13073-016-0360-6. Genome Med. 2016. PMID: 27799064 Free PMC article.

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