Publications

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A
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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Abdel-Salam, G. M. H., M. S. Zaki, S. N. Saleem, and K. R. Gaber, "Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome", American Journal of Medical Genetics Part A, vol. 146, no. 22: Wiley Online Library, pp. 2929–2936, 2008. 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.
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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B
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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C
Conlogue, G., S. Saleem, and P. Zádori, "Development of Study Strategies -Section 5: Interpretation Strategies . ", Advances in Paleoimaging. Applications for paleoanthropology, Bioarchaeology, Forensics, and cultural artefacts, Boca Raton, CRC, 2020.
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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.
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.

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Ghada MH Abdel‐Salam, Mohamed S Abdel‐Hamid, S. S. M. K. H. A. M. I. L. E. H. K. M. N. K. F., "Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome", American Journal of Medical Genetics Part A, vol. 158A, issue 8, pp. 1823-1831, 2012. AbstractCU-PDF

We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead, large beaked nose, relatively large ears, and mandibular microretrognathia. Brain magnetic resonance imaging (MRI) revealed extremely simplified gyral pattern, large interhemispheric cyst and agenesis of corpus callosum, abnormally shaped hippocampus, and proportionately affected cerebellum and brainstem. In addition, fundus examination showed foveal
hypoplasia with optic nerve atrophy. No abnormalities of the internal organs were found. This profound formof microcephaly was identified at 17 weeks gestation by ultrasound and fetal brain MRI helped in characterizing the developmental brain malformations in the second sib. Molecular analysis excluded mutations in potentially related genes such asRNU4ATAC,SLC25A19, and ASPM. These clinical and imaging findings are unlike that of any recognized severe forms of microcephaly which is believed to
be a new microcephalic primordial dwarfism (MPD) with developmental brain malformations with most probably autosomal recessive inheritance based on consanguinity and similarly affected male and female sibs.

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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Hawass, Z., and S. N. Saleem, Scanning the pharaohs: CT imaging of the New Kingdom Royal Mummies, , New York, AUC Press, 2016.
Hawass, Z., S. Ismail, A. Selim, S. N. Saleem, D. Fathalla, S. Wasef, A. Z. Gad, R. Saad, S. Fares, H. Amer, et al., "Revisiting the harem conspiracy and death of Ramesses III: anthropological, forensic, radiological, and genetic study", BMJ: British Medical Journal, vol. 345: BMJ, 2012. Abstract
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Hawass, Z., S. Ismail, A. Selim, S. N. Saleem, and D. Fathalla, "Revisiting the harem conspiracy and death of Ramesses III: anthropological, forensic, radiological, and genetic study", BMJ: British Medical Journal, vol. 345, 2012. Abstract

Objective To investigate the true character of the harem conspiracy described in the Judicial Papyrus of Turin and determine whether Ramesses III was indeed killed.

Design Anthropological, forensic, radiological, and genetic study of the mummies of Ramesses III and unknown man E, found together and taken from the 20th dynasty of ancient Egypt (circa 1190-1070 BC).

Results Computed tomography scans revealed a deep cut in Ramesses III’s throat, probably made by a sharp knife. During the mummification process, a Horus eye amulet was inserted in the wound for healing purposes, and the neck was covered by a collar of thick linen layers. Forensic examination of unknown man E showed compressed skin folds around his neck and a thoracic inflation. Unknown man E also had an unusual mummification procedure. According to genetic analyses, both mummies had identical haplotypes of the Y chromosome and a common male lineage.

Conclusions This study suggests that Ramesses III was murdered during the harem conspiracy by the cutting of his throat. Unknown man E is a possible candidate as Ramesses III’s son Pentawere.

Hawass, Z., and S. N. Saleem, "Computed tomography examination of the screaming mummy “Unknown-Woman-A. ", Egyptian Journal of Radiology and Nuclear Medicine, vol. 51, pp. 139, 2020.
Hawass, Z., and S. N. Saleem, "Mummified Daughters of King Tutankhamun: Archeologic and CT Studies", American Journal of Roentgenology, vol. 197, no. 5: Am Roentgen Ray Soc, pp. W829–W836, 2011. Abstract
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Lancaster, M. A., D. J. Gopal, J. Kim, S. N. Saleem, J. L. Silhavy, C. M. Louie, B. E. Thacker, Y. Williams, M. S. Zaki, and J. G. Gleeson, "Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome", Nature medicine, vol. 17, no. 6: Nature Publishing Group, pp. 726–731, 2011. Abstract
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Lancaster, M. A., D. J. Gopal, J. Kim, S. N. Saleem, J. L. Silhavy, C. M. Louie, B. E. Thacker, Y. Williams, M. S. Zaki, and J. G. Gleeson, "Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome", Nature Medicine, vol. 17, no. 6: Nature Publishing Group, pp. 726–731, 2011. Abstract
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M
Maha S Zaki, Sahar N Saleem, W. D. J. B. H. B. A. D. M. A. N. A. J. B. A. M., "Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation", Brain, vol. 135, issue 8, pp. 2416-2427, 2012. Abstract

We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic–mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic–mesencephalic junction with a characteristic ‘butterfly’-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term ‘diencephalic–mesencephalic junction dysplasia’ to characterize this autosomal recessive malformation.

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Nabhan, M. M., S. Brenzinger, J. Carlsson, S. N. Saleem, E. A. Otto, and F. Hildebrandt, "Intrafamilial Variability and Clinical Heterogeneity in Two Siblings with NPHP4 loss of Function Mutations", Journal of Molecular Biomarkers & Diagnosis, vol. 6, issue 217, pp. 1-4, 2015.
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.
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RG, B., C. GJ, V. MD, S. SN, S. H-A, and P. - M. D, "A paleoimaging study of human mummies held in the Mother Church of Gangi, Sicily: Implications for mass casualty methodology", Forensic Imaging, vol. 23, pp. 200416, 2020.
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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
Saleem, S. N., "Feasibility of MRI of the fetal heart with balanced steady-state free precession sequence along fetal body and cardiac planes", American Journal of Roentgenology, vol. 191, no. 4: Am Roentgen Ray Soc, pp. 1208–1215, 2008. Abstract
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