Aleem Lab

Publications

1.         Alice Abdel Aleem. Neuromuscular Disorders/Congenital Muscular Dystrophies Present and Future in Qatar: Lessons from PPM1 Research Outcomes. Qscience Proceedings, Congenital Dystrophies - Neuromuscular Disorders Precision Medicine: Genomics to Care and Cure, Volume 2020, https://doi.org/10.5339/qproc.2020.NMD.1

2.         Alice Abdel Aleem. Neuromuscular Disorders: Clinical, Genomic and Proteomic Databases. Qscience Proceedings, https://doi.org/10.5339/qproc.2020.NMD.23

3.         Alice Abdel Aleem, Mahmoud F. Elsaid, Nader Chalhoub, Almahdi Chakroun, Khalid AS Mohamed, Rana AlShamic, Omer Kuzub, Reem Mohamed, Khalid Ibrahim, Noora AlMudheki, Omar O.Mohamed, Elizabeth Ross, Osama  ELalamy. Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Neuromuscul Disord. 2020 Jun 1;30 (6):P457-71. http://doi.10.1016/j.nmd.2020.03.009

4.         Raphael M Bendriem, Shawn Singh, Alice Abdel Aleem, David A Antonetti, M Elizabeth Ross. Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex. eLife Dec. 2019 [cited 2020 Jul 7];, 8:e49367. https://doi.org/10.7554/eLife.49376.

5.         Eman Mohammed, Hanan H. Beherei,Mohamed El-Zawahry, Abdel H. Razik Farrag, Naglaa Kholoussi, Iman Helwa ,Khaled Gaber, Mousa A. Allam,  Mostafa Mabrouk, Alice K. Abdel Aleem.  Combination of Human Amniotic Fluid Derived-Mesenchymal Stem Cells and Nano-hydroxyapatite Scaffold Enhances Bone Regeneration. Open Access Maced J Med Sci. 2020 Jan.;7(17):2739-2750 vol 7, 2019. DOI: https://doi.org/10.3889/oamjms.2019.730

6.         Mohammed E,  El-Zawahry M, Farrag A, Abdel Aziz N,  Sharaf-ElDin W, Abu-Shahba N, Mahmoud M, Gaber K,  Ismail T, Mossaad M,  Abdel Aleem AK.  Osteogenic Differentiation Potential of Human Bone Marrow and Amniotic Fluid derived Mesenchymal Stem Cells in vitro & in vivo. Open Access Maced J Med Sci. 2019 [cited 2020 Jul 7]; 7(4): 507–515. https://doi.org/10.3889/oamjms.2019.124

7.         Eman Mohamed, Mahmoud F Elsaid, Alice Abdel Aleem, CYP2U1 recessive recurrent missense mutation in a Gulf family with hereditary spastic paraplegia (SPG56). Middle East Journal of Medical Genetics. 2020,8 (2): 96-99. DOI: 10.4103/MXE.MXE_19  

8.         Elsaid MF, Chalhoub N, Ben-Omran T, Kamel H, Al Mureikhi M, Ibrahim K, Elizabeth Ross M, Abdel Aleem AK. Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome. Clinical genetics, 2018;93(2):387-91. https://www.ncbi.nlm.nih.gov/pubmed/28787085

9.         Elsaid MF, Chalhoub N, Ben-Omran T, Kumar P, Kamel H, Ibrahim K, Mohamoud Y, Al-Dous E, Al-Azwani I, Malek JA, Suhre K, Ross ME, Aleem AA. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Annals of neurology. 2017 Jan;81(1):68-78. https://www.ncbi.nlm.nih.gov/pubmed/27863452

10.      Elsaid MF, Ibrahim K, Chalhoub N, Elsotouhy A, El Mudehki N, Abdel Aleem A. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. BMC medical genetics. 2017 Mar 21;18(1):33. https://www.ncbi.nlm.nih.gov/pubmed/28327087

11.      Elsaid MF, Chalhoub N, Kamel H, Ehlayel M, Ibrahim N, Elsaid A, Kumar P, Khalak H, Ilyin VA, Suhre K, Abdel Aleem A. Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction? Clinical genetics. 2016 Feb;89(2):210-6. https://www.ncbi.nlm.nih.gov/pubmed/26285796

12.      Kumar P, Al-Shafai M, Al Muftah WA, Chalhoub N, Elsaid MF, Aleem AA, Suhre K. Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance. BMC research notes. 2014 Oct 22;7:747. https://www.ncbi.nlm.nih.gov/pubmed/25339461

13.      Elsaid MF, Kamel H, Chalhoub N, Aziz NA, Ibrahim K, Ben-Omran T, George B, Al-Dous E, Mohamoud Y, Malek JA, Ross ME, Aleem AA. Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum. American journal of medical genetics. Part A. 2014 Jun;164a(6):1614-7. https://www.ncbi.nlm.nih.gov/pubmed/24668585

14.      Mahmoud IG, Mahmoud M, Refaat M, Girgis M, Waked N, El Badawy A, Selim L, Hassan S, Abdel Aleem AK. Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients. Pediatric neurology. 2014 Feb;50(2):140-8. https://www.ncbi.nlm.nih.gov/pubmed/24315536

15.      Zaki MS, El-Din WS, Hamdy GM, Kamal I, Aleem AA. Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome. Egyptian Journal of Medical Human Genetics. 2012;13(1):19-27. https://www.ajol.info/index.php/ejhg/article/view/77383

16.      Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS. Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. European journal of medical genetics. 2011 Jan-Feb;54(1):82-5. https://www.ncbi.nlm.nih.gov/pubmed/20971220

17.      Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonniere M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human mutation. 2010 May;31(5):E1319-31. https://www.ncbi.nlm.nih.gov/pubmed/20232449

18.      Abdel-Salam GM, El-Kamah GY, Rice GI, El-Darouti M, Gornall H, Szynkiewicz M, Aymard F, Zaki MS, Abdel-Aleem AK, Lebon P, Crow YJ. Chilblains as a diagnostic sign of aicardi-goutieres syndrome. Neuropediatrics. 2010 Feb;41(1):18-23. https://www.ncbi.nlm.nih.gov/pubmed/20571986

19.      Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nature genetics. 2009 Sep;41(9):1032-6. https://www.ncbi.nlm.nih.gov/pubmed/19668216

20.      Abdel Aleem A, Zaki MS. Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy. Journal of neurology. 2008 Mar;255(3):413-9. https://www.ncbi.nlm.nih.gov/pubmed/18297329

21.      Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 2008 Feb 12;70(7):556-65. https://www.ncbi.nlm.nih.gov/pubmed/18268248

22.      Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of neurology. 2006 Mar;59(3):527-34. https://www.ncbi.nlm.nih.gov/pubmed/16453322

23.      Abdel Aleem A, Abbas E, Shousha W, El-mahdy s. Laboratory Protocols for Fragile X Screening and Accurate Diagnosis; Reverse Transcriptase, Long Template, and Digoxigenin Labeled PCR assays. The Egyptian Journal of Neurology, Psychiatry and Neurosurgery 2007; 44 (1), 11-18.

24.      Abdel-Aleem A , Abdel-Salam G, Kayed H, Zaki M. C677T Polymorphism of the 5,10- Methylenetetrahydrofolate Reductase (MTHFR) Gene as a Risk Factor for Neural Tube Defects among Egyptian Families. The Egyptian Journal of Medical Human Genetics 2006; 7, No. 2: 139-153.

25.      Abdel-Aleem A, Abbas E, Effat L, Sharaf El-Din H. Association of Polymorphisms of the Estrogen Receptor alpha Gene with Bone Mineral Density in Postmenopausal Egyptian Women. The Egyptian Journal of Medical Human Genetics 2006; 7, No. 2: 115-125.

26.      Hussein I, Medhat A, Zohny S, Abd El-Aleem A, El-Kammah G, Foda B. Evaluation of Some Genetic Factors Influencing the Phenotypic Severity of β Thalassemia Egyptian Patients. The Egyptian Journal of Biochemistry and molecular biology 2004; 22, No. 2: 107-122.

27.      Ali M , Kholoussi N, Ezz El-din Z, Nadi A, Abdel Aleem A. Neonatal Jaundice and its Association with Erythrocytes Deformation and Molecular Changes. The Egyptian Journal of Laboratory Medicine, Proceedings of the XV Annual Congress of ESLM, 2004: 431-444.

28.      Abdel-Aleem A, Kalff-Suske M, Temtamy S, Meguid N, Hassan S, Grzeschik K-H. Molecular Genetics Screening of GLI3 Gene in Various Polydactyly-Phenotypes in Egyptian Patients. The Arab Journal of Laboratory Medicine 2002; 28: 189-194.Abd El-Aleem A, Stuhrman M, Friedl W, Zerres K, Schmidtke J. Repeat contraction in Fragile X syndrome. Timing of (CGG)n Trinucleotide Repeat’s Transition. Arab Emirates Medical Journal 2002; 20 ( 2-6).

29.      El-Aleem AA, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. Human mutation. 1999 Aug 19;14(2):181. https://www.ncbi.nlm.nih.gov/pubmed/10425041

30.      El-Aleem AA, Bohm I, Temtamy S, el-Awady M, Awadalla M, Schmidtke J, Stuhrmann M. Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection. Human genetics. 1995 Nov;96(5):577-84. https://www.ncbi.nlm.nih.gov/pubmed/8530006

Book Chapters

1.         Abdel Aleem AK. DNA sequencing resolves misdiagnosed and rare genetic disorders, 2020. Book title: Biochemical Analysis Tools - Methods for Bio-Molecules StudiesPublisher Open Access: IntechOpen ISBN 978-1-78984-857-1.  Pub_BookschapterpublishedinIntechopenBook_20200627090737.pdf

2.  Abdel Aleem AK. Hereditary Spastic Paraplegias. Clinical Spectrum and Growing List of Genes.  Neurodegenerative Diseases [Internet]. Dover, DE. USA. SM Group; 2017 [p. 1-32. Available from: https://smjournals.com/ebooks/Neurodegenerative-Diseases/chapters/ND-17-02.pdf.

Case Reports

1.         Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. American journal of medical genetics. Part A. 2007 May 1;143a(9):939-44. https://www.ncbi.nlm.nih.gov/pubmed/17431900

2.         Abdel-Aleem A, Zaki M, Abdel-Salam G, Shehab M. Novel Truncating Mutation in MECP2 Gene in a Sporadic Case with Typical Rett Syndrome. Journal of Arab Child 2007; 18, No. 1, 61-66.

3.         Afifi HH, Abd El-Aleem A, Shaheen OO. Clinical and behavioral phenotype of a sample of Egyptian patients with fragile X syndrome diagnosed by reverse transcriptase-polymerase chain reaction of KH domains. Med J Cairo Univ. 2001;69(2 Suppl 2):175-85.