Publications by authors named "Amira Masri"

54Publications

Parental use of conventional and complementary therapy for autism in Jordan.

Complement Ther Med 2020 Jan 6;48:102275. Epub 2019 Dec 6.

Faculty of Medicine, The University of Jordan, Jordan. Electronic address:

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http://dx.doi.org/10.1016/j.ctim.2019.102275DOI Listing
January 2020

School bullying: an increasingly recognized etiology for psychogenic non-epileptic seizures: report of two cases.

Int J Pediatr Adolesc Med 2019 Dec 28;6(4):155-157. Epub 2019 May 28.

Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, The University of Jordan, Jordan.

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http://dx.doi.org/10.1016/j.ijpam.2019.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6926182PMC
December 2019

Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.

Clin Neurol Neurosurg 2020 02 9;189:105636. Epub 2019 Dec 9.

Human Genetics and Molecular Biology, Medical Laboratory Sciences, Faculty of Science Institute of Molecular and Cell Biology, A⁎STAR, Singapore, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2019.105636DOI Listing
February 2020

Anti-NMDA receptor encephalitis in a toddler: A diagnostic challenge.

Int J Pediatr Adolesc Med 2018 Jun 30;5(2):75-77. Epub 2018 Apr 30.

Distinguished Professor of Pediatrics and Infectious Disease, Department of Pediatrics, Faculty of Medicine, The University of Jordan, Amman, Jordan.

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http://dx.doi.org/10.1016/j.ijpam.2018.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363247PMC
June 2018

Predictors of nonadherence in children and adolescents with epilepsy: A multimethod assessment approach.

Epilepsy Behav 2018 08 4;85:205-211. Epub 2018 Jul 4.

Children Neurology, Faculty of Medicine, the University of Jordan, Amman, Jordan.

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http://dx.doi.org/10.1016/j.yebeh.2018.06.022DOI Listing
August 2018

Recurrent meningitis in children: etiologies, outcome, and lessons to learn.

Childs Nerv Syst 2018 08 4;34(8):1541-1547. Epub 2018 May 4.

Department of Internal Medicine, Division of Infectious Diseases, School of Medicine, The University of Jordan, Amman, Jordan.

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http://dx.doi.org/10.1007/s00381-018-3815-9DOI Listing
August 2018

Parental knowledge and attitudes towards epilepsy -A study from Jordan.

Seizure 2017 Dec 8;53:75-80. Epub 2017 Nov 8.

Department of Biochemistry, Faculty of Medicine, The University of Jordan, Jordan. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2017.11.006DOI Listing
December 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142104PMC
December 2016

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.

Brain Dev 2017 Apr 11;39(4):306-311. Epub 2016 Nov 11.

Institute of Life Sciences, Swansea University Medical School, Swansea University, UK. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.10.010DOI Listing
April 2017

Congenital insensitivity to pain and anhydrosis due to a rare mutation and that is complicated by inflammatory bowel disease and amyloidosis: a case report.

Clin Case Rep 2016 Oct 12;4(10):997-1000. Epub 2016 Sep 12.

Department of Pediatrics Division of Child Neurology Jordan University Hospital The University of Jordan Amman Jordan.

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http://dx.doi.org/10.1002/ccr3.689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054479PMC
October 2016

Patterns of antiepileptic drugs use in epileptic pediatric patients in Jordan.

Neurosciences (Riyadh) 2016 Jul;21(3):264-7

Department of Biopharmaceutics and Clinical Pharmacy, Faculty of Pharmacy, University of Jordan, E-mail: /

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107296PMC
http://dx.doi.org/10.17712/nsj.2016.3.20150766DOI Listing
July 2016

Clinical presentation, etiology, and outcome of stroke in children: A hospital-based study.

Brain Dev 2016 Feb 2;38(2):204-8. Epub 2015 Sep 2.

Department of Pediatrics, Division of Pediatric Cardiology, Faculty of Medicine, The University of Jordan, Jordan.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604150017
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http://dx.doi.org/10.1016/j.braindev.2015.08.007DOI Listing
February 2016

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

Am J Med Genet A 2015 Nov 24;167A(11):2503-2507. Epub 2015 Jun 24.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.37225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011459PMC
November 2015

Intracranial Hypertension in Children: Etiologies, Clinical Features, and Outcome.

J Child Neurol 2015 Oct 11;30(12):1562-8. Epub 2015 Mar 11.

Faculty of Medicine, Department of Ophthalmology, University of Jordan and Jordan University Hospital, Amman, Jordan.

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http://jcn.sagepub.com/content/15/7/453.full.pdf
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http://jcn.sagepub.com/cgi/doi/10.1177/0883073815574332
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http://dx.doi.org/10.1177/0883073815574332DOI Listing
October 2015

Bilateral pleural effusion as a complication of central venous catheterization.

J Vasc Access 2015 Jul 20;16(4):e80-1. Epub 2015 Jul 20.

Pediatric Department, Division of Child Neurology, Faculty of Medicine, The University of Jordan, Amman - Jordan.

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http://dx.doi.org/10.5301/jva.5000364DOI Listing
July 2015

Katanin p80 regulates human cortical development by limiting centriole and cilia number.

Neuron 2014 Dec;84(6):1240-57

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Harvard MD-PhD MSTP Program, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485387PMC
December 2014

Vagus nerve stimulation therapy in a developing country: a long term follow up study and cost utility analysis.

Seizure 2015 Feb 1;25:167-72. Epub 2014 Nov 1.

Faculty of Medicine, University of Jordan, PO Box 1612, Amman 11941, Jordan. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2014.10.014DOI Listing
February 2015

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.

Eur J Paediatr Neurol 2014 May 21;18(3):399-403. Epub 2014 Feb 21.

Department of Genetics, Harvard Medical School, Boston, MA, USA; Department of Medicine and the Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.02.002DOI Listing
May 2014

Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.

Am J Med Genet A 2014 May 29;164A(5):1254-61. Epub 2014 Jan 29.

Department of Pediatrics, University of Jordan, Amman, Jordan.

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http://dx.doi.org/10.1002/ajmg.a.36412DOI Listing
May 2014

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.

Neurology 2013 Oct 27;81(16):1378-86. Epub 2013 Sep 27.

From the Division of Genetics (L.B.H., A.-T.N.L., R.S.H., J.N.P., M.A.-S., J.M.S., G.H.M.) and Division of Developmental Medicine (R.N.), Department of Medicine, and Howard Hughes Medical Institute (J.N.P.), Boston Children's Hospital, Boston, MA; Division of Child Neurology (A.M.), Department of Pediatrics, Jordan University Hospital, Amman, Jordan; Department of Anatomy (K.K., M.W.), Hokkaido University Graduate School of Medicine, Sapporo, Japan; Department of Physiology (W.K., M.Y.), School of Medicine, Keio University, Tokyo, Japan; Department of Pediatrics (E.L.-M., N.C.), New York Medical College, Valhalla, NY; Department of Pediatrics (M.A.-S.), Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Department of Pediatrics (R.N., J.M.S., G.H.M.), Harvard Medical School, Boston, MA; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and Pediatric Neurology Unit (G.H.M.), Department of Neurology, Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0b013e3182a841a3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806907PMC
October 2013

Manifestations and treatment of epilepsy in children with neurometabolic disorders: a series from Jordan.

Seizure 2014 Jan 16;23(1):10-5. Epub 2013 Aug 16.

Department of Pediatrics, Faculty of Medicine, The University of Jordan, Jordan.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311130022
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http://dx.doi.org/10.1016/j.seizure.2013.08.006DOI Listing
January 2014

Clinical and inheritance profile of familial childhood epilepsy in Jordan.

Seizure 2013 Jul 20;22(6):443-51. Epub 2013 Mar 20.

Child Neurology, Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, The University of Jordan, Amman, Jordan, P.O. Box 1612, Code 11941 Amman, Jordan.

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http://dx.doi.org/10.1016/j.seizure.2013.02.017DOI Listing
July 2013

Diagnostic delay of autism in Jordan: review of 84 cases.

Libyan J Med 2013 Jan;8(1):21725

c Department of Developmental Behavioral Pediatrics Boston Children's Hospital, Harvard Medical School, Boston , MA , USA.

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http://dx.doi.org/10.3402/ljm.v8i0.21725DOI Listing
January 2013

Acute urine retention induced by ceftriaxone.

Saudi J Kidney Dis Transpl 2011 Nov;22(6):1226-8

Department of Pediatrics Nephrology, University of Jordan, Amman, Jordan.

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November 2011

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

Mol Genet Metab 2011 Dec 16;104(4):700-2. Epub 2011 Sep 16.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100324
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http://dx.doi.org/10.1016/j.ymgme.2011.09.013DOI Listing
December 2011

Septo-optic dysplasia syndrome with schizencephaly and sudden visual loss. A new observation.

Neurosciences (Riyadh) 2011 Jul;16(3):281-2

Division of Child Neurology, Department of Pediatrics, Faculty of Medicine, University of Jordan, Amman, Jordan.

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July 2011

Mondini malformation associated with diastematomyelia and presenting with recurrent meningitis.

J Child Neurol 2011 May 18;26(5):622-4. Epub 2011 Mar 18.

Department of Pediatrics, Division of Child Neurology, Jordan University Hospital, Amman, Jordan.

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http://dx.doi.org/10.1177/0883073810387136DOI Listing
May 2011

Profile of developmental delay in children under five years of age in a highly consanguineous community: a hospital-based study--Jordan.

Brain Dev 2011 Nov 30;33(10):810-5. Epub 2010 Dec 30.

Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, The University of Jordan, P.O. Box 1612, 11941 Amman, Jordan.

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http://dx.doi.org/10.1016/j.braindev.2010.12.002DOI Listing
November 2011

Lead levels in children with developmental delay. A hospital-based study.

Neurosciences (Riyadh) 2009 Jul;14(3):302-3

Department of Pediatrics, Division of Child Neurology, University of Jordan, Amman, Jordan. Tel. +962 (7) 77770919. E-mail:

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July 2009

Intra-axial dermoid tumor mimicking pilocytic astrocytoma.

Childs Nerv Syst 2009 Apr 30;25(4):395-6. Epub 2009 Jan 30.

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http://dx.doi.org/10.1007/s00381-008-0796-0DOI Listing
April 2009

Griscelli syndrome type 2: a rare and lethal disorder.

J Child Neurol 2008 Aug 10;23(8):964-7. Epub 2008 Apr 10.

Department of Pediatrics, Division of child Neurology, Jordan University Hospital, Amman, Jordan.

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http://dx.doi.org/10.1177/0883073808315409DOI Listing
August 2008

Etiologies, outcomes, and risk factors for epilepsy in infants: a case-control study.

Clin Neurol Neurosurg 2008 Apr 4;110(4):352-6. Epub 2008 Feb 4.

The University of Jordan, Faculty of Medicine, Pediatric Department, Division of Child Neurology, Jordan.

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http://dx.doi.org/10.1016/j.clineuro.2007.12.013DOI Listing
April 2008

Familiarity, knowledge, and attitudes towards epilepsy among attendees of a family clinic in Amman, Jordan.

Neurosciences (Riyadh) 2008 Jan;13(1):53-6

Departments of Pediatrics, Division of Child Neurology, Faculty of Medicine, University of Jordan, Amman, Jordan. Tel. +962 777770919. E-mail:

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January 2008

Clinical and inheritance profiles of hyperekplexia in Jordan.

J Child Neurol 2007 Jul;22(7):895-900

Division of Child Neurology, Department of Pediatrics, Faculty of Medicine, University of Jordan, Amman 11942, Jordan.

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http://dx.doi.org/10.1177/0883073807304704DOI Listing
July 2007

Consanguinity and genetic disorders. Profile from Jordan.

Saudi Med J 2007 Jul;28(7):1015-7

National Center for Diabetes, Endocrinology and Genetics, Department of Pediatrics, Jordan University Hospital, Amman, Jordan.

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July 2007

Ataxia-telangiectasia complicated by craniopharyngioma--a new observation.

Pediatr Neurol 2006 Oct;35(4):287-8

Department of Pediatrics, Division of Child Neurology, Jordan University Hospital, Amman, Jordan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.05.011DOI Listing
October 2006

Role of maternal factors in the etiology of neural tube defects in Jordan.

Authors:
Amira T Masri

Saudi Med J 2005 Dec;26(12):2000-1

Department of Pediatrics, Division of Child Neurology, Jordan University Hospital, Amman, Jordan.

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December 2005