Publications by authors named "Mona Aglan"

50Publications

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

Am J Hum Genet 2020 11 14;107(5):977-988. 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:

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November 2020

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.

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November 2018

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.

J Proteomics 2017 09 9;167:46-59. Epub 2017 Aug 9.

Functional Proteomics Laboratory, Department of Life Sciences, University of Siena, Siena, Italy. Electronic address:

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September 2017

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:

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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.

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October 2016

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis.

Biomed Res Int 2015 23;2015:517815. Epub 2015 Apr 23.

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

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February 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.

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August 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.

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August 2013

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Am J Hum Genet 2013 Apr 21;92(4):598-604. Epub 2013 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia.

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April 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.

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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.

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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.

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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.

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November 2012

Springtime for science in Egypt.

Authors:
Mona Aglan

Science 2011 May;332(6033):1032

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May 2011

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.

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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.

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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.

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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.

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June 2005