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Saleem, S., A. I. Belal, and N. M. El-Ghandour, "Spinal cord schistosomiasis: MR imaging appearance with surgical and pathologic correlation", American journal of neuroradiology, vol. 26, no. 7: Am Soc Neuroradiology, pp. 1646–1654, 2005. Abstract
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Saleem, S. N., S. A. Seddik, and M. El-Halwagy, "Scanning and three-dimensional-printing using computed tomography of the “Golden Boy” mummy", Frontiers in medicine, vol. 9, pp. 1028377, 2023.
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Abdel-Salam, G. M. H., M. S. Abdel-Hamid, S. N. Saleem, M. K. H. Ahmed, M. Issa, L. K. Effat, H. F. Kayed, M. S. Zaki, and K. R. Gaber, "Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome", American Journal of Medical Genetics Part A: Wiley Subscription Services, Inc., A Wiley Company, 2012. Abstract
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Behairy, N. H., S. Talaat, S. N. Saleem, and M. A. El-Raouf, "Magnetic resonance imaging in fetal anomalies: What does it add to 3D and 4D US?", European journal of radiology, vol. 74, no. 1: Elsevier, pp. 250–255, 2010. Abstract
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Behairy, N. H., S. Talaat, S. N. Saleem, and M. A. El-Raouf, "Magnetic resonance imaging in fetal anomalies: What does it add to 3D and 4D US?", European journal of radiology, vol. 74, no. 1: Elsevier, pp. 250–255, 2010. Abstract
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Escande-Beillard, N., A. Loh, S. N. Saleem, K. Kanata, Y. Hashimoto, U. Altunoglu, A. Metoska, J. Grandjean, F. M. Ng, O. Pomp, et al., "Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.", Neuron, vol. 107, issue 1, pp. 82-94.e6, 2020. Abstract

Patients lacking PYCR2, a mitochondrial enzyme that synthesizes proline, display postnatal degenerative microcephaly with hypomyelination. Here we report the crystal structure of the PYCR2 apo-enzyme and show that a novel germline p.Gly249Val mutation lies at the dimer interface and lowers its enzymatic activity. We find that knocking out Pycr2 in mice phenocopies the human disorder and depletes PYCR1 levels in neural lineages. In situ quantification of neurotransmitters in the brains of PYCR2 mutant mice and patients revealed a signature of encephalopathy driven by excessive cerebral glycine. Mechanistically, we demonstrate that loss of PYCR2 upregulates SHMT2, which is responsible for glycine synthesis. This hyperglycemia could be partially reversed by SHMT2 knockdown, which rescued the axonal beading and neurite lengths of cultured Pycr2 knockout neurons. Our findings identify the glycine metabolic pathway as a possible intervention point to alleviate the neurological symptoms of PYCR2-mutant patients.

Guemez-Gamboa, A., A. O. Çağlayan, V. Stanley, A. Gregor, M. S. Zaki, S. N. Saleem, D. Musaev, J. McEvoy-Venneri, D. Belandres, N. Akizu, et al., "Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.", Annals of neurology, vol. 84, issue 5, pp. 638-647, 2018 Nov. Abstract

OBJECTIVE: To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome.

METHODS: Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent stem cells were derived into neural precursor and endothelial cells to study gene expression.

RESULTS: All patients showed biallelic mutations in the nonclustered protocadherin-12 (PCDH12) gene. The characteristic clinical presentation included progressive microcephaly, craniofacial dysmorphism, psychomotor disability, epilepsy, and axial hypotonia with variable appendicular spasticity. Brain imaging showed brainstem malformations and with frequent thinned corpus callosum with punctate brain calcifications, reflecting expression of PCDH12 in neural and endothelial cells. These cells showed lack of PCDH12 expression and impaired neurite outgrowth.

INTERPRETATION: DMJD patients have biallelic mutations in PCDH12 and lack of protein expression. These patients present with characteristic microcephaly and abnormalities of white matter tracts. Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions. Ann Neurol 2018;84:646-655.

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Said, A. H., E. El-Kattan, M. S. Abdel-Hakeem, and H. A. El-Khayat, "In utero MRI diagnosis of fetal malformations in oligohydramnios pregnancies", EJRNM, vol. 47, issue 4, pp. 1733-1742, 2016. oligo_ejrnm_2016.pdf
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El-Bassyouni, H. T., G. H. Abdel Salam, S. N. Saleem, H. F. Kayed, M. M. Eid, M. Shihab, M. E. Zaki, and Z. MS, "Holoprosencephaly spectrum among Egyptian Patients: clinical and cytogenetic study", Genetic Counseling , vol. 25, issue 4, pp. 369-381, 2014.
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Abdel-Salam, G. M. H., H. H. Afifi, S. N. Saleem, M. I. Gadelhak, M. A. El-Serafy, I. S. M. Sayed, and M. S. Abdel-Hamid, "Further Evidence of a Continuum in the Clinical Spectrum of Dominant -Related Disorders and Implications in Cerebellar Anomalies.", Molecular syndromology, vol. 13, issue 5, pp. 389-396, 2022. Abstract

INTRODUCTION: Pathogenic variants in the PIEZO family member 2 () gene are known to cause Gordon syndrome (GS), Marden-Walker syndrome (MWS), and distal arthrogryposis type 5 (DA5). Out of these, MWS has a recognizable phenotype that can be discerned easily, but the distinction between GS and DA5 is less evident. Few children with pathogenic variants have been reported to show posterior fossa anomalies.

METHODS AND RESULTS: By candidate gene targeting guided by proper clinical evaluation and neuroimaging findings, a patient with classic MWS harboring a de novo novel variant (c.8237G>A, p.W2746*) in the C-terminal region of PIEZO2 was identified. In addition, another girl with the typical clinical features of GS is also described carrying the most prevalent reported variant (c.8057G>A, p.R2686H) in . The brain MRI of the 2 patients showed Dandy-Walker malformation (DWM). Diffusion tensor imaging visualized anteroposterior and downward aligned thin middle cerebellar peduncle. The association of DWM with arthrogryposis in the presence of variants remains quite interesting and provides more evidence that PIEZO2 plays a role in the development of hindbrain although the underlying mechanism remains unclear. Moreover, the 2 girls had distinct foot patterning in the form of shortening of the first and fifth toes.

CONCLUSION: Phenotype analysis and a comprehensive review of the literature strongly support the previously published data and corroborate the evidence that heterozygous related disorders represent a continuum with overlapping phenotypic features.

Saleem, S. N., A. H. Said, M. Abdel-Raouf, E. A. El-Kattan, M. S. Zaki, N. Madkour, and M. Shokry, "Fetal MRI in the evaluation of fetuses referred for sonographically suspected neural tube defects (NTDs): impact on diagnosis and management decision", Neuroradiology, vol. 51, no. 11: Springer, pp. 761–772, 2009. Abstract
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Saleem, S. N., A. H. Said, M. Abdel-Raouf, E. A. El-Kattan, M. S. Zaki, N. Madkour, and M. Shokry, "Fetal MRI in the evaluation of fetuses referred for sonographically suspected neural tube defects (NTDs): impact on diagnosis and management decision", Neuroradiology, vol. 51, no. 11: Springer, pp. 761–772, 2009. Abstract
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Abdel‐Salam, G. M. H., M. S. Abdel‐Hamid, H. A. El‐Khayat, O. M. Eid, S. Saba, M. K. Farag, S. N. Saleem, and K. Gaber, "Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype", American Journal of Medical Genetics Part A, vol. 167, issue 5, pp. 1089-1099, 2015.
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Nabhan, M. M., N. Elkhateeb, D. A. Braun, S. Eun, S. N. Saleem, H. Y. Gee, F. Hildebrandt, and N. A. Soliman, "Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature", ة American Journal of Medical Genetics Part A, vol. 173, issue 10, pp. 2697-2702, 2017.
Aglan, M. S., A. K. Abdel-Aleem, A. I. S. EL-Katoury, M. H. Hafez, S. N. Saleem, G. A. Otaify, and S. A. Temtamy, "Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients", Egyptian Journal of Medical Human Genetics, vol. 10, no. 1, 2009. Abstract
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Aglan, M. S., A. K. Abdel-Aleem, A. I. S. EL-Katoury, M. H. Hafez, S. N. Saleem, G. A. Otaify, and S. A. Temtamy, "Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients", Egyptian Journal of Medical Human Genetics, vol. 10, no. 1, 2009. Abstract
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Saleem, S. N., Sabah Abdel Razek Sedik, and M. El-Halwagy, "A Child Mummy in a Pot: Computed Tomography Study and Insights on Child Burials in Ancient Egypt", Guardian Of Ancient Egypt: Studies in honor of Zahi Hawass. , Prague, Charles University , Faculty of Arts, 2020. child_in_a_pot_zahi_festshrift_2020.pdf
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