Publications by authors named "Ebtesam M Abdalla"

13Publications

The morbid genome of ciliopathies: an update.

Authors:
Hanan E Shamseldin Ranad Shaheen Nour Ewida Dalal K Bubshait Hisham Alkuraya Elham Almardawi Ali Howaidi Yasser Sabr Ebtesam M Abdalla Abdullah Y Alfaifi Jameel Mohammed Alghamdi Afaf Alsagheir Ahmed Alfares Heba Morsy Maged H Hussein Mohammad A Al-Muhaizea Mohammad Shagrani Essam Al Sabban Mustafa A Salih Neama Meriki Rubina Khan Maisoon Almugbel Alya Qari Maha Tulba Mohammed Mahnashi Khalid Alhazmi Abrar K Alsalamah Sawsan R Nowilaty Amal Alhashem Mais Hashem Firdous Abdulwahab Niema Ibrahim Tarfa Alshidi Eman AlObeid Mona M Alenazi Hamad Alzaidan Zuhair Rahbeeni Mohammed Al-Owain Sameera Sogaty Mohammed Zain Seidahmed Fowzan S Alkuraya

Genet Med 2020 Jun 14;22(6):1051-1060. Epub 2020 Feb 14.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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June 2020

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Authors:
Cecilia Giunta Matthias Baumann Christine Fauth Uschi Lindert Ebtesam M Abdalla Angela F Brady James Collins Jahannaz Dastgir Sandra Donkervoort Neeti Ghali Diana S Johnson Ariana Kariminejad Johannes Koch Marius Kraenzlin Nayana Lahiri Bernarda Lozic Adnan Y Manzur Jenny E V Morton Jacek Pilch Rebecca C Pollitt Gudrun Schreiber Nora L Shannon Glenda Sobey Anthony Vandersteen Fleur S van Dijk Martina Witsch-Baumgartner Johannes Zschocke F Michael Pope Carsten G Bönnemann Marianne Rohrbach

Genet Med 2018 01 15;20(1):42-54. Epub 2017 Jun 15.

Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

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January 2018

Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant.

Authors:
Ebtesam M Abdalla Ahmed A El-Beheiry

J Pediatr Genet 2017 Jun 2;6(2):118-121. Epub 2017 Jan 2.

Department of Diagnostic Radiology, Faculty of Medicine, Alexandria University, Egypt.

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June 2017

Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Authors:
Morteza Seifi Tim Footz Sherry A M Taylor Ghada M Elhady Ebtesam M Abdalla Michael A Walter

Acta Ophthalmol 2016 Nov 24;94(7):e571-e579. Epub 2016 Mar 24.

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

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November 2016

De novo EDA mutations: Variable expression in two Egyptian families.

Authors:
Agnieszka Gaczkowska Ebtesam M Abdalla Karin M L Dowidar Ghada M Elhady Pawel P Jagodzinski Adrianna Mostowska

Arch Oral Biol 2016 Aug 30;68:21-8. Epub 2016 Mar 30.

Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland. Electronic address:

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August 2016

Postmortem clinical examination by experienced clinical geneticists as an alternative to conventional autopsy for assessment of fetal and perinatal deaths in countries with limited resources.

Authors:
Ebtesam M Abdalla Lubna M El Desouky Nargues M Hassanein

Turk J Pediatr 2015 Mar-Apr;57(2):146-53

Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt.

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August 2016

β-Globin Mutations in Egyptian Patients With β-Thalassemia.

Authors:
Ammar D Elmezayen Samia M Kotb Nadia A Sadek Ebtesam M Abdalla

Lab Med 2015 ;46(1):8-13

Departments of Human Genetics and

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July 2016

A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome.

Authors:
Ebtesam M Abdalla Cristina Has

Mol Syndromol 2014 Dec 28;5(6):304-6. Epub 2014 Nov 28.

Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.

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December 2014

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.

Authors:
Ebtesam M Abdalla Marianne Rohrbach Céline Bürer Marius Kraenzlin Hazem El-Tayeby Mervat F Elbelbesy Amira Nabil Cecilia Giunta

Eur J Pediatr 2015 Jan 3;174(1):105-12. Epub 2014 Oct 3.

Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt,

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January 2015

A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family.

Authors:
Ebtesam M Abdalla Adrianna Mostowska Paweł P Jagodziński Karin Dwidar Suzan R Ismail

Arch Oral Biol 2014 Jul 19;59(7):722-8. Epub 2014 Apr 19.

Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.

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July 2014

Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss.

Authors:
Mahmoud R Fassad Lubna M Desouky Samir Asal Ebtesam M Abdalla

Int J Mol Epidemiol Genet 2014 15;5(4):200-4. Epub 2014 Dec 15.

Department of Human Genetics, Medical Research Institute, Alexandria University Egypt.

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March 2015

Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families.

Authors:
Ebtesam M Abdalla Bruce E Hayward Ahmed Shamseddin Mona M Nawar

Eur J Obstet Gynecol Reprod Biol 2012 Oct 4;164(2):211-5. Epub 2012 Jul 4.

Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.

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October 2012

Detection of Heterozygous Carriers of PKU in Egypt: Successful Application of a Simple Biochemical Method.

Authors:
Ebtesam M Abdalla

J Egypt Public Health Assoc 2008 ;83(3-4):239-54

Human Genetics Department, Medical Research Institute, University of Alexandria.

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November 2015