Aisha M Al-Shamsi

Aisha M Al-Shamsi

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Aisha M Al-Shamsi

Aisha M Al-Shamsi

Publications by authors named "Aisha M Al-Shamsi"

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17Publications

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A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.

Clin Genet 2018 12 11;94(6):586-587. Epub 2018 Oct 11.

College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1111/cge.13443
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http://dx.doi.org/10.1111/cge.13443DOI Listing
December 2018

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

BMC Med Genet 2018 03 2;19(1):34. Epub 2018 Mar 2.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0540-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834892PMC
March 2018

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

Am J Med Genet A 2017 May 21;173(5):1257-1263. Epub 2017 Mar 21.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.38153DOI Listing
May 2017

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Hum Genome Var 2014 6;1:14020. Epub 2014 Nov 6.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University , Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1038/hgv.2014.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785524PMC
April 2016

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Am J Med Genet A 2016 Jan 23;170A(1):156-61. Epub 2015 Sep 23.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1002/ajmg.a.37405
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http://dx.doi.org/10.1002/ajmg.a.37405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448135PMC
January 2016

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.

J Mol Neurosci 2015 Nov 9;57(3):393-9. Epub 2015 Jun 9.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1007/s12031-015-0592-8DOI Listing
November 2015

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.

J Dermatol 2015 Aug 11;42(8):821-2. Epub 2015 May 11.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1111/1346-8138.12917
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http://dx.doi.org/10.1111/1346-8138.12917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704090PMC
August 2015

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

Metab Brain Dis 2015 Jun 17;30(3):687-94. Epub 2014 Sep 17.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://dx.doi.org/10.1007/s11011-014-9618-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915861PMC
June 2015

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

Eur J Pediatr 2015 May 12;174(5):661-8. Epub 2014 Nov 12.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, 17666, United Arab Emirates,

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http://link.springer.com/10.1007/s00431-014-2449-5
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http://dx.doi.org/10.1007/s00431-014-2449-5DOI Listing
May 2015

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.

J Mol Neurosci 2015 May 18;56(1):17-23. Epub 2014 Nov 18.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://link.springer.com/10.1007/s12031-014-0463-8
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http://dx.doi.org/10.1007/s12031-014-0463-8DOI Listing
May 2015

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

Childs Nerv Syst 2014 Jul 11;30(7):1183-9. Epub 2014 Jan 11.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://dx.doi.org/10.1007/s00381-013-2352-9DOI Listing
July 2014

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

Birth Defects Res A Clin Mol Teratol 2013 Dec 6;97(12):764-9. Epub 2013 Sep 6.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University.

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http://dx.doi.org/10.1002/bdra.23170DOI Listing
December 2013

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

Orphanet J Rare Dis 2013 Jun 17;8:87. Epub 2013 Jun 17.

Department of Pathology, College of Medicine and Health Sciences United Arab Emirates University, P,O, Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/1750-1172-8-87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847167PMC
June 2013