Aisha Al-Shamsi

Aisha Al-Shamsi

UNVERIFIED PROFILE

Are you Aisha Al-Shamsi?   Register this Author

Register author
Aisha Al-Shamsi

Aisha Al-Shamsi

Publications by authors named "Aisha Al-Shamsi"

Are you Aisha Al-Shamsi?   Register this Author

31Publications

873Reads

21Profile Views

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

J Mol Neurosci 2019 Aug 29. Epub 2019 Aug 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12031-019-01398-6DOI Listing
August 2019

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.

View Article

Download full-text PDF

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

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.

Am J Med Genet A 2018 09 28;176(9):1996-2003. Epub 2018 Jul 28.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40424DOI Listing
September 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 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.

View Article

Download full-text PDF

Source
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
Publisher Site
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.

View Article

Download full-text PDF

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

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Am J Hum Genet 2017 May 20;100(5):824-830. Epub 2017 Apr 20.

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, QC H3T 1J4, Canada.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297173011
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2017.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420346PMC
May 2017

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

Orphanet J Rare Dis 2016 07 8;11(1):94. Epub 2016 Jul 8.

Department of Pediatrics, United Arab Emirates University, P.O. Box 17666, Al-Ain, UAE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-016-0474-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939014PMC
July 2016

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.

View Article

Download full-text PDF

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

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

JIMD Rep 2016 28;30:59-62. Epub 2016 Apr 28.

Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2016_532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110448PMC
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37405
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/1346-8138.12917
Publisher Site
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,

View Article

Download full-text PDF

Source
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,

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00431-014-2449-5
Publisher Site
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,

View Article

Download full-text PDF

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

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Hum Mutat 2015 Jan 18;36(1):34-8. Epub 2014 Nov 18.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, GA Nijmegen, The Netherlands; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/humu.22715
Publisher Site
http://dx.doi.org/10.1002/humu.22715DOI Listing
January 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,

View Article

Download full-text PDF

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

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

Sultan Qaboos Univ Med J 2014 Feb 27;14(1):e42-9. Epub 2014 Jan 27.

Department of Paediatrics, College of Medicine & Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916276PMC
February 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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