Publications by authors named "Samira Ismail"

24Publications

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Am J Hum Genet 2020 Oct 14. Epub 2020 Oct 14.

Instituto de Investigaciones Biomédicas "Alberto Sols," Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.09.005DOI Listing
October 2020

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Am J Med Genet A 2020 Sep 19. Epub 2020 Sep 19.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61857DOI Listing
September 2020

The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.

Behav Brain Res 2020 01 3;378:112272. Epub 2019 Oct 3.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, P.O. 12622, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbr.2019.112272DOI Listing
January 2020

Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.

Arch Dermatol Res 2019 Nov 6;311(9):721-730. Epub 2019 Aug 6.

Clinical Genetics Department, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00403-019-01953-6DOI Listing
November 2019

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.

Am J Med Genet B Neuropsychiatr Genet 2019 07 29;180(5):305-309. Epub 2019 Apr 29.

Clinical and Chemical Pathology Department, Faculty of Medicine, Benha University, Benha, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32729DOI Listing
July 2019

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Am J Med Genet A 2019 02 21;179(2):237-242. Epub 2018 Dec 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61021DOI Listing
February 2019

Phenotypic and molecular insights into PQBP1-related intellectual disability.

Am J Med Genet A 2018 11 23;176(11):2446-2450. Epub 2018 Sep 23.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40479DOI Listing
November 2018

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30276-2.pdf
Web Search
http://www.cell.com/cms/attachment/2062243761/2063920621/mmc
Web Search
http://dx.doi.org/10.1016/j.ajhg.2016.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974110PMC
August 2016

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Metab Brain Dis 2016 10 7;31(5):1171-9. Epub 2016 Jul 7.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir street, Dokki, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11011-016-9861-7DOI Listing
October 2016

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

Eur J Paediatr Neurol 2016 Sep 30;20(5):714-22. Epub 2016 May 30.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4993451PMC
September 2016

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Am J Med Genet A 2015 Dec 18;167A(12):3054-61. Epub 2015 Aug 18.

Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37287DOI Listing
December 2015

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

Gene 2014 Apr 13;539(2):279-82. Epub 2014 Feb 13.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2014.01.070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226855PMC
April 2014

Genetic variants of neurotransmitter-related genes and miRNAs in Egyptian autistic patients.

ScientificWorldJournal 2013 23;2013:670621. Epub 2013 Dec 23.

Department of Molecular Genetics, National Research Centre, Giza, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2013/670621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885205PMC
June 2014

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2013 Aug 21;161A(8):1875-81. Epub 2013 Jun 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36009DOI Listing
August 2013

Phenotypic characterization of rare interstitial deletion of chromosome 4.

J Pediatr Genet 2012 Sep;1(3):189-94

Department of Clinical Genetics, Human Genetics & Genome Research, National Research Center, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/PGE-2012-029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020940PMC
September 2012

Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.

Clin Dysmorphol 2003 Apr;12(2):77-83

Department of Human Genetics, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00019605-200304000-00001DOI Listing
April 2003

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

Hum Genet 2002 Oct 16;111(4-5):376-87. Epub 2002 Aug 16.

Institute of Reproductive and Developmental Biology, Imperial College School of Medicine, Hammersmith Campus, Du Cane Road, London, W12 0NN, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-002-0777-4DOI Listing
October 2002