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Your search keyword '"Alaa, K."' showing total 10 results
Start Over Author "Alaa, K." Journal middle east journal of medical genetics
10 results on '"Alaa, K."'

4. Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8

Author

Amal M. Mohamed, Mona Aglan, Samira Ismail, Maha M. Eid, Mona K. Mekkawy, Alaa K. Kamel, Mona O. El-Ruby, Maha S. Zaki, Nivine A. Helmy, and Samia A Temtamy

Subjects
0301 basic medicine, 03 medical and health sciences, Pathology, medicine.medical_specialty, 030104 developmental biology, 0302 clinical medicine, medicine, Mosaic trisomy 8, Pharmacology (medical), Biology, 030217 neurology & neurosurgery
Published
2017

5. Cytogenetics abnormalities in a referred population for chromosomal analysis and the role of fluorescence in-situ hybridization in refining the diagnosis

Author

Maha M. Eid, Hanan H. Afifi, Nivine A. Helmy, Marwa I. Shihab, Inas Mazen, Mona Aglan, Amal M. Mohamed, Mona O. El-Ruby, Assad El-Gerzawy, Saida A Hammad, Ola M. Eid, Alaa K. Kamel, Hesham F. Kayed, Maha S. Zaki, Wael Mahmoud, Mona K. Mekkawy, Ghada M H Abdel Salam, and Samia A Temtamy

Subjects
Genetics, education.field_of_study, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Population, Chromosomal analysis, Cytogenetics, medicine, Pharmacology (medical), education, business, Fluorescence in situ hybridization
Published
2017

7. XX testicular disorder of sex development with Down syndrome

Author

Inas Mazen, Alaa K. Kamel, Manal M. Thomas, Mona K. Mekkawy, and Mona O. El Ruby

Subjects
Down syndrome, Pediatrics, medicine.medical_specialty, business.industry, Testicular Disorder, medicine, Pharmacology (medical), medicine.disease, business
Published
2014

8. Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies

Author

Samira Ismail, Maha S. Zaki, Nivine A. Helmy, Sherine K. Amin, Mahmoud Y. Issa, Olweya M Abdel Baky, and Alaa K. Kamel

Subjects
Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, Genetic syndromes, business.industry, Neuropsychology, Magnetic resonance imaging, medicine.disease, Corpus callosum, White matter, Epilepsy, medicine.anatomical_structure, Agenesis, medicine, Autism, Pharmacology (medical), business
Abstract

Introduction Corpus callosum (CC) connects the left and right cerebral hemispheres. It is the largest white matter structure in the brain connecting mainly homotopic, as well as heterotopic, brain areas of both hemispheres. It has a major role in everyday behavior. Agenesis of CC can occur as isolated finding on MRI, or more commonly, it is associated with large number of brain anomalies. Patients and methods Neuropsychological and genetic assessment was done for 64 cases with corpus callosum abnormalities, whose age ranged from 6 months to 11 years and 9 months, with a mean age of 3 years and 6 months. This study was done from January 2012 till December 2014. Results Overall, 12.5% of the cases had chromosomal aberrations, 14% of the cases had identified genetic syndrome, and 73% of the cases were nonsyndromic/unclassified. Variable degrees of mental subnormality were encountered among 58 (92.2%) of 64 studied patients. Conclusion Abnormalities of the CC are often associated with cognitive deficits, autism, and epilepsy.

Published
2018

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