Prof. Dr. Ezzat El Sobky

Prof. Dr Ghada el Sayed

Prof. Dr. Solaf Elsayed

Dr. Nermine Salah

Prof. Dr. Ezzat El Sobky

Medical Director

Recent publications:

  • Risk of Chromosomal Abnormalities Among Babies Born After Intracytoplasmic Sperm Injection (ICSI).
  • The t(12; 21) in Pediatric B-Cell Precursor ALL by FISH and G-Banding: Prognostic Significance And Use in Detection of Minimal Residual Disease.
  • Detection of Monosomy 7 in Acute Myeloid Leukaemia by Conventional Cytogenetics and Fluorescence In Situ Hybridization.
  • Detection of SRY gene in Egyptian Children With Intersex using Fluorescent In Situ Hybridization (FISH).
  • Cytogenetic Study of Uterine Leiomyomata.
  • Mutagenic effect of some pharmaceutical compounds in some biological systems.
  • Detection of D13S25 Deletion Abnormality by FISH and Expression of Adhesion Molecule VLA-4 in B-Chronic Lymphocytic Leukemia.
  • Cranial Sonographic Findings in Joubert’s Syndrome.
  • Anophthalmia- Microphthalmia in an extended family with consanguinity: further confirmation of Anophthalmia- Plus syndrome.
  • Molecular cytogenetic profile of hepatitis C infection in patients at Sharkia Governorate – Egypt
  • Down Syndrome in Egypt
  • Extended Metabolic Screen In Sick Neonates and Children.
  • Microdeletion of chromosome 22 in a series of patients with non- selective congenital heart defects.
  • Inherited Thrombotic Risk Factors in non-selected group of Egyptian population.
  • Glucose-6-Phosphate Dehydrogenase (G6PD) mutations in Non- selected Group of Egyptian Children.
  • Cytogenetics of fetal anomalies detected by ultrasonography.
  • Evidence for Single origin of 35delG and delE120 mutations in the GJB2 in Antolia.
  • Marinseco-Sjogren syndrome maps to chromosome 5q31 and is caused by mutation of BAP/SIL1 gene in an extended pedigree.
  • Prenatal onset infantile cortical hyperostosis (Caffey disease): an Egyptian report.
  • Cohen Syndrome.
  • Molecular Genetic Analysis in Mild Hyperhomocystenemia: A common mutation in the Methylenetetrahydrofolate Reductase gene Associated with recurrent Cerebrovascular strokes

Ongoing researches:

  • Cytogenetics of gliomas.
  • Cytogetics (HR , FISH) in children with unexplained mental retardation.

References:

Prof. Dr Ghada el Sayed

Molecular Lab Manager

Publications: International :

  • The importance of rapid aneuploidy screening and prenatal diagnosis in the detection of numerical chromosomal abnormalities. Ghada M El-Sayed. SpringerPlus. 01/2013;
  • FLT3 internal tandem duplication and JAK2 V617F mutations in de novo acute myelogenous leukemia: relation with induction chemotherapy and overall survival. Magda M Assem, Magda M Noshy, Ghada M Elsayed, Hanan R Nassar3 Gamal Thabet, Ghada M Sherif . Life Science Journal 2012;9(4). 09/2012; 9(4):1053-1060.
  • Expression of P-glycoprotein, Cyclin D1 and Ki-67 in Acute Lymphoblastic Leukemia: Relation with Induction Chemotherapy and Overall Survival.. Ghada M Elsayed, Manar M Ismail, Manar M Moneer. Indian Journal of Hematology and Blood Transfusion 09/2011; 27(3):157-63.
  • Clinical features and treatment outcome of acute promyelocytic leukemia patients treated at cairo national cancer institute in egypt.. Ola Khorshid, Amira Diaa, Mohamed Abd El Moaty, Rafat Abd El Fatah, Ihab El Dessouki, Maha Abd El Hamid, Essam El Noshokaty, Ghada El Saied, Tamer M Fouad, Safaa M Ramadan. Mediterranean Journal of Hematology and Infectious Diseases 01/2011; 3(1):e2011060.
  • Phenotype of apoptotic lymphocytes in children with Down syndrome.Solaf M Elsayed, Ghada M Elsayed. Immunity & Ageing 02/2009; 6:2
  • MTHFR 677 C→T Polymorphism and the Risk of Cardiac Septal Defects: A Pilot Study. Omneya I Youssef, Ghada M El Sayed. Life Science Journal 01/2012; ;9(4).

Publications: National:

  • Maternal MTHFR C677T genotype and septal defects in offspring with Down syndrome: A pilot study. Ghada M. Elsayed, Solaf M. Elsayed, Sahar S. Ezz-Elarab. Egyptian Journal of Medical Human Genetics 01/2013
  • Prognostic value of IDH1 mutations identified with PCR-RFLP assay in acute myeloid leukemia patients. Ghada M. Elsayed, Hanan R. Nassar, Amr Zaher, Essam H. Elnoshokaty, Manar M. Moneer. Journal of the Egyptian National Cancer Institute 01/2013
  • Bcl-2 protein expression in egyptian acute myeloid leukemia.. Nayera H El-Shakankiry, Ghada M El-Sayed, Shereen El-Maghraby, Manar M Moneer..Journal of the Egyptian National Cancer Institute 03/2009; 21(1):71-6.
  • Viral genomes and antigen detection of hepatitis B and C viruses in involved lymph nodes of Egyptian non-Hodgkin`s lymphoma patients. Ghada Mohamed El-Sayed, Waleed Seif El-din Mohamed,Mohamed Akram Nouh, Manar Mohamed Moneer, Hadir Ahmed El-Mahallawy.The Egyptian journal of immunology / Egyptian Association of Immunologists 02/2006; 13(1):105-14.
  • Intercellular adhesion molecule-1(ICAM-1), CD44s expression and serum level of sICAM-1 in disseminated non-Hodgkin`s lymphoma: correlation with overall survival. Mostafa Aboul-Enein, Ghada M El-Sayed, Shreen El-Maghraby,Nahla A B Abd-Elatif, Gehan A Abd Elwahab, Amany A Elbasmy. Journal of the Egyptian National Cancer Institute 01/2005; 16(4):244-51.
  • Expression of DCC (Deleted in colorectal carcinoma) gene in adult AML: Correlation with response to induction chemotherapy and overall survival. Ghada M Elsayed, Mohamad Hafez,Hanan R Nassar, Yasser Mabrouk, Mnanr Moneer. The Egyptian Journal of Hematology. Vol32.June 2007
  • Clinical Relevance of Death receptors (TNFR1, TNFR2 and CD95) and the chemokine receptor CXCR4 Expression in Childhood Acute Leukemia. Maha S Madbolee, Ghada M elsayed, Manar M Ismail, Emad Ebid, Faten H Elmahalawee, Lobna Mostaf. The Journal of the Egyptian Society of Hematology & Research. Vol (2), September. 2006
  • FLT3: A target for molecular therapy in Egyptian acute myelogenous leukemia. Nayera H Elshakankery, Sheren Elmaghraby, Ghada M Elsayed, Manar M Moneer. The Egyptian Journal of Hematology. 2007
  • Intercellular adhesion molecule-1(ICAM-1), CD44s expression, and serum level of sICAM-1 in disseminated non-Hodgkin`s lymphoma: correlation with overall survival. Mostafa Aboul Enein, Ghada M Elsayed, Sheren Elmahgraby, Nahal Bahgat, Gehan Abdewahab, Amany Elbasmy. The Journal of the Egyptian National Cancer institute. Vol.16, December 2004
  • The incidence of biphenotypic type in acute leukemia. Mostafa Aboul Enein, Omima Goher, Nhala M Leheta, Faten Elmahalawee, Khaled Aboul Eneien, Ghada M Elsayed. The Egyptian Journal of Hematology. Vol.28. June.2003

Prof. Dr. Solaf Elsayed

Clinics Manager

Publications: International :

  • Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses Eastern Mediterranean Health Journal. Volume 7, No. 6, November 2001, 981- 991
  • Dorfman-Chanarin Syndrome in Egypt. American Journal of Medical Genetics. 2003; 212A: 75-78.
  • Evidence for Single origin of 35delG and delE120 mutations in the GJB2 in Antolia. Clin Genet. 2004:67:31-37.
  • Microdeletion of chromosome 22 in a series of patients with non- selective congenital heart defects. Proceedings of the 12th world congress on heart disease- New trends in Research, Diagnosis and Treatment. Vancouver, BC, Canada, July 16-19, 2005. Eds: Asher Kimchi. Mediamond international proceedings
  • Frequency of five thrombophilic polymorphisms in the Egyptian population. Turk J Hematol 2006; 23:100-103
  • A novel mutation in BAP/SIL1 gene causes Marinesco–Sjogren syndrome in an extended pedigree Clin Genet 2006: 70: 420–423
  • Molecular Genetic Analysis in Mild Hyperhomocystenemia: A common mutation in the Methylenetetrahydrofolate Reductase gene Associated with recurrent Cerebrovascular strokes J. Med. Sci. 2004; 4 (2): 95-101
  • Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome. Neurology. 2008 Jun 10;70(24):2343-4.
  • Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. J Hum Genet. 2008;53(8):681-7.
  • Mutational Analysis of the MEFV Gene in Egyptian Patients with Familial Mediterranean Fever. Turk J Med Sci. 2009; 39 (1):
  • Phenotype of apoptotic lymphocytes in children with Down syndrome. Immunity and Aging Journal 2009, 6:2
  • Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia- cleft palate (EEC) syndrome. Genetic counseling 2010; 21 (2): 215-220
    [Ribosomal protein S19 – 631 insertion is an African-originated mutation] Turkish Journal of Hematology 27 (2) , pp. 123-124
  • Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.. Orphanet J Rare Dis. 2010 Dec 1;5:33
  • Cholestasis in patients with Cockayne syndrome and suggested modidied criteria for clinical diagnosis. Orphanet Journal of Rare Diseases 2011, 6:13
  • Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients. BMC Pediatr. 2011 Jun 17;11:56
  • Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011 Jul 1;121(7). pii: 43639. doi: 10.1172/JCI43639
  • Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients] Turkish Journal of Hematology 28 (4) , pp. 299-305
  • Inherited thrombophilia in pediatric ischemic stroke: An Egyptian study. Pediatric Neurology 47 (2) , pp. 114-118
  • TNF-α-308 G/A polimorfizmi | [TNF-α-308 G/A polymorphism in Egyptian budd-chiari syndrome patients] Turkish Journal of Hematology 29 (4) , pp. 420-421.
  • Prominent extensor truncal dystonia in egyptian patients with Wilson`s disease. Movement Disorders 2014, 29 (1): 151-153.
  • WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfect. American Journal of Human Genetics 2014, 92: 590-597.
  • Autosomal dominant SCA5 and autosomal recessive SCA are allelic conditions resulting from SPTBN2 mutations. 2014; 22 (2): 286-288

Publications: Local Publications:

  • Juvenile Hyaline Fibromatosis: case report .Egyptian Journal of Medical Human Genetics. 2002; 3 (1): 85-93
  • Emergency Management of Inherited Metabolic Diseases. Egyptian Journal of Medical Human Genetics. 2003; 4 (2): 95-103.
  • Fibrodysplasia Ossificans Progressiva: A case report. Egyptian Journal of Medical Human Genetics. 2003; 4 (2): 43-47.
  • Dorfman-Chanarin Syndrome (DCS): Another Egyptian Patient. The Afro-arab Liver Journal. 2004; 3 (1): 61-65.
  • Extended Metabolic Screen in Sick Neonates and Children. Egyptian Journal of Medical Human Genetics. 2004; 5 (2): 1-7.
  • Bone Mineral Density in Children with Chronic Liver Disease The Egyptian Journal of Pediatrics2004; 21 (2): 271-279,
  • Down syndrome in Egypt. Egyptian Journal of Medical Human Genetics. 2004; 5 (2): 67-78.
  • Gaucher Disease with Pulmonary, Cardiac and Renal Involvement. Improvement on Fractionation of Cerezyme Dose. Egyptian Journal of Medical Human Genetics. 2004; 5 (2): 55-59.
  • Molecular Genetic Analysis in Mild Hyperhomocystenemia: A common mutation in the Methylenetetrahydrofolate Reductase gene Associated with recurrent Cerebrovascular strokes. J. Med. Sci. 2004; 4 (2): 95-101
  • Dyggve-Melchior_Clausen Syndrome: Case Report. Egyptian Journal of Medical Human Genetics. 2005; 6 (1): 67-72.
  • Hypomelanosis of Ito Associated with Neuroblastoma. Egyptian Journal of Medical Human Genetics. 2005; 6 (1): 73-79.
  • Prenatal onset infantile cortical hyperostosis (Caffey disease): an Egyptian report. The Egyptian Journal of Neonatology 2005; 6 (1):47-49
  • Cohen Syndrome. Egyptian Journal of Medical Human Genetics. 2005; 6 (2): 207-212.
  • Methylation Status of the KCNQ1OT and H19 genes in Beckwith-Wiedmann syndrome. Egyptian Journal of Medical Human Genetics 2005; 6 (1): 55-61.
  • Inherited Thrombotic Risk Factors in non-selected group of Egyptian population. Egyptian Journal of Medical Human Genetics. 2005; 6 (1): 55-61.
  • Gallbladder disease in children with Down syndrome Egyptian Journal of Medical Human Genetics. 2005.
  • Connexin 26 Mutations in Non-selected group of Egyptian Population The Egyptian Journal of Pediatrics 2005; 22 (2&3): 349-359
  • Femoral hypoplasia-unusual facies syndrome: femoral facial syndrome (FFS): A recessive severe skeletal form?? Egyptian Journal of Medical Human Genetics. 2006; 7 (2):251-254.
  • Moonlighting proteins: old proteins learning new tricks. Egyptian Journal of Medical Human Genetics. 2006; 7 (2):107-113.
  • Clinical evaluation of non-selected group of craniofacial dysmorphism Egyptian Journal of Medical Human Genetics. 2007; 8 (1)
  • Acrocallosal Syndrome (ACS) Egyptian Journal of Medical Human Genetics. 2007; 8 (1)
  • MURCS association: a case report. Egypt. J. Med. Hum. Genet. Vol. 8, No.(2):219-224, Nov. 2007
  • Triple A syndrome presenting with myopathy: an Egyptian patient: The Egyptian Journal of Medical Human Genetics: 2009, 10 (1): 105- 109
  • Therapeutic approaches to genetic disorders. Egyptian Journal of Medical Human Genetics: 2009, 10 (2): 118- 128
  • Maternal risk factors in young Egyptian mothers of Down syndrome Egyptian Journal of Medical Human Genetics: 2009, 10: (2): 144- 152
  • Progressive osseus heteroplasia: An Egyptian patient: Egyptian Journal of Medical Human Genetics: 2010, 11: (1):
  • Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation: Egyptian Journal of Medical Human Genetics: 2011
  • Colchicine resistant FMF is not always true resistance Egyptian Journal of Medical Human Genetics: 2011
  • Connexin 26 (GJB2) Mutation in KID Syndrome: An Egyptian Patient Egyptian Journal of Medical Human Genetics: 2011
  • Outcome of enzyme replacement therapy in children with Gaucher disease: The Egyptian experience. Egyptian Journal of Medical Human Genetics: 2011
  • Multiple pterygium syndrome with marked pterygia of the fingers and MRI changes in the spine. Egyptian Journal of Medical Human Genetics. 2012, 13 (1): 107–113
  • Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation. Egyptian Journal of Medical Human Genetics 2011, 12 (1): 63-68
  • Consanguinity and its relevance to clinical genetics Egyptian Journal of Medical Human Genetics:. 2013
  • Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome. Egyptian Journal of Medical Human Genetics: 2013
  • Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum Egyptian Journal of Medical Human Genetics 2013; 14 : 421-428
  • Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi . Egyptian Journal of Medical Human Genetics 2013, 14 : 311-315
  • A severe form of cholestasis lymphoedema syndrome (Aagenaes syndrome) with progressive arthritis. Egyptian Liver Journal. 2014; 4(1):25-27
  • Maternal MTHFR C677T genotype and septal defects in offspring with Down syndrome: A pilot study . Egyptian Journal of Medical Human Genetics 2014; 15 : 39-44.
  • The blessing effect of an extra copy of chromosome 21. Egyptian Journal of Medical Human Genetics 2014; 15 : 209-210
  • Non-deletion mutations in Egyptian patients with Duchenne muscular dystrophyEgyptian Journal of Medical Human Genetics 2014; under press

Dr. Nermine Salah El Dine El-Sayed

Molecular Lab Deputy Manager

PUBLICATIONS:

  • Rabah M. Shawky, Nermine S. Elsayed, Doaa S. Ibrahim, Neveen S. Seifeldin. Profile of genetic disorders prevalent in northeast region of Cairo, Egypt. 2012 (13): 45–62.
  • Rabah.M. Shawky, N.S.Elsayed and N.S. Seifeldin. Facial dysmorphism, skeletal anomalies, congenital glaucoma, dysplastic nails: Mild Rubinstein-Taybi syndrome The Egyptian Journal of Medical Human Genetics, Vo.13,2, 233-238, 2012.
  • Rabah M. Shawky and El-Sayed NS. Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians.Egypt. J. Med.Hum. Genet. 2011; 11(2): 167–172
  • Mohamed AF, El-Sayed NS, Seifeldin NS. Clinico-epidemiologic features of oculocutaneous albinism in northeast section of Cairo – Egypt. J.Med. Hum. Genet. 2010 11 (2):167-172.
  • Rabah M. Shawky and El-Sayed NS. Corpus Callosum Defect with Dilated Lateral Ventricles and an Occipital Cyst in an Egyptian Child with Diamond-Blackfan Anemia.. Egypt. J. Med. Hum. Genet. 2010; 11 (1): 85-90.
  • Nabil Kitchener, Hamed El-Khayat, Ahmed R Ibrahim, Nermine S. El-Sayed. The Molecular basis of epilepsy in Specific Developmental Disorders. International J. of child Neuropsychiatry. 2008, 5:1-11.
  • Shawky RM, Elhawary NA, Salem MSZ, Elgebaly HH, El-Sayed NS. Gene analysis and carrier detection of Duchenne muscle dystrophy in Egyptian families. Egypt J Med Hum Genet. 2006; 7(2):227-240.
  • Elhawary NA, Shawky, RM, El-Sayed NS. High precision DNA microsatellite genotyping in Duchenne muscular dystrophy families using ion-pair reversed-phase high performance liquid chromatography. Clin Biochem, USA, 2006; 39(7), 758-761.
  • Shawky RM, Zaghloul MS, Elhawary NA, Elgebaly HH, El-Sayed NS. Comprehensive rapid identification of female carriers of DMD/BMD by ion-pair reversed phase high performance liquid chromatography. Egypt J Med Hum Genet, 2005; 6(1), 41–53.
  • Shawky RM, El-Sayed NS, Elhawary NA. Mutations in transglutaminase gene 1 in autosomal recessive congenital lamellar ichthyosis in Egyptian families. Dis Markers. 2004; 20(6), 325-32.
  • Shawky RM, El-Sayed NS, Elhawary NA. Splice site acceptor mutation in TGM1 gene in autosomal recessive congenital ichthyosis in Egyptian families. Egypt J Med Hum Genet. 2003; 4(1), 1–14.