Publications by authors named "Mona S Aglan"

27Publications

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

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

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.

Gene 2017 Feb 5;600:48-54. Epub 2016 Nov 5.

Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03781119163088
Publisher Site
http://dx.doi.org/10.1016/j.gene.2016.11.002DOI Listing
February 2017

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

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

Hum Mutat 2014 Aug 28;35(8):959-63. Epub 2014 Jun 28.

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22597DOI Listing
August 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

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

A scoring system for the assessment of clinical severity in osteogenesis imperfecta.

J Child Orthop 2012 Mar 8;6(1):29-35. Epub 2012 Feb 8.

Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, El-Buhouth Street, Dokki, Cairo, 12311 Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11832-012-0385-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303020PMC
March 2012

Anthropometric measurements in Egyptian patients with osteogenesis imperfecta.

Am J Med Genet A 2012 Nov 7;158A(11):2714-8. Epub 2012 Aug 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35529DOI Listing
November 2012

Growth curves of Egyptian patients with Turner syndrome.

Am J Med Genet A 2012 Nov 27;158A(11):2687-91. Epub 2012 Jul 27.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35518DOI Listing
November 2012

Growth charts of Down syndrome in Egypt: a study of 434 children 0-36 months of age.

Am J Med Genet A 2012 Nov 18;158A(11):2647-55. Epub 2012 Jul 18.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35468DOI Listing
November 2012

Brachydactyly.

Orphanet J Rare Dis 2008 Jun 13;3:15. Epub 2008 Jun 13.

Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, El-Buhouth St., Dokki, 12311, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-3-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441618PMC
June 2008

Adams-Oliver syndrome: further evidence of an autosomal recessive variant.

Clin Dysmorphol 2007 Jul;16(3):141-9

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e3280f9df22DOI Listing
July 2007

3-M syndrome: a report of three Egyptian cases with review of the literature.

Clin Dysmorphol 2006 Apr;15(2):55-64

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

View Article

Download full-text PDF

Source
http://pdfs.journals.lww.com/clindysmorphol/2006/04000/3_M_s
Web Search
http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/01.mcd.0000198926.01706.33DOI Listing
April 2006

Assessment of pubertal development in Egyptian girls.

J Pediatr Endocrinol Metab 2005 Jun;18(6):577-84

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem.2005.18.6.577DOI Listing
June 2005