CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

Authors: Otaify, Ghada A., Elhossini, Rasha M., Abdel‐Ghafar, Sherif F., Sayed, Inas M., Abdel‐Salam, Ghada M. H., Aglan, Mona S., Abdel‐Hamid, Mohamed S.

Source: American journal of medical genetics.Part A. 191(8):2100-2112

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Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum

Authors: Otaify, Ghada A., Abdel‐Hamid, Mohamed S., Hassib, Nehal F., Elhossini, Rasha M., Abdel‐Ghafar, Sherif F., Aglan, Mona S.

Source: American journal of medical genetics.Part A. 188(6):1815-1825

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149841054.0x000001&indx=1&recIds=ETOCvdc_100149841054.0x000001

Clinical and molecular cytogenetic description of a female patient with de novo 18q inversion duplication/deletion

Authors: Mahrous, Rana, Gabal, Mohamed S., Eid, Ola M., Ashaat, Engy A., Aglan, Mona S., Shoman, Ahmed E., Mohamed, Amal M.

Source: In Gene Reports December 2021 25

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.

Authors: Elhossini, Rasha M., El-Bassyouni, Hala T., Ashaat, Engy A., Ashour, Adel M., Hamed, Khaled, Soliman, Doaa R., Hegazy, Ibrahim, Abdel-Hadi, Sawsan, Elbendary, Hasnaa M., Mehrez, Mennat, Hassib, Nehal F., Al Kersh, Mohamed A., Othman, Amal I., Abdel-Salam, Ghada M.H., Abdel-Hamid, Mohamed S., Aglan, Mona S.

Source: Clinical Dysmorphology; Apr2025, Vol. 34 Issue 2, p15-24, 10p

Monoallelic variants in ACVR1in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva

Authors: Elhossini, Rasha M., El-Bassyouni, Hala T., Ashaat, Engy A., Ashour, Adel M., Hamed, Khaled, Soliman, Doaa R., Hegazy, Ibrahim, Abdel-Hadi, Sawsan, Elbendary, Hasnaa M., Mehrez, Mennat, Hassib, Nehal F., Al Kersh, Mohamed A., Othman, Amal I., Abdel-Salam, Ghada M.H., Abdel-Hamid, Mohamed S., Aglan, Mona S.

Source: Clinical Dysmorphology; April 2025, Vol. 34 Issue: 2 p15-24, 10p

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Authors: Palencia‐Campos, Adrián, Martínez‐Fernández, María‐Luisa, Altunoglu, Umut, Soto‐Bielicka, Patricia, Torres, Antonio, Marín, Purificación, Aller, Elena, Şentürk, Leyli, Berköz, Ömer, Yıldıran, Mehmet, Kayserili, Hülya, Gil‐Camarero, Elena, Colli‐Lista, Gloria, Sanchís‐Calvo, Amparo, Carretero, Alba, Guillén‐Navarro, Encarna, López‐González, Vanesa, Ballesta‐Martínez, María, Rosell, Jordi, Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Cuevas‐Catalina, Lourdes, Torres‐Saavedra, María‐Nieves, Nevado, Julian, Tenorio, Jair, Lapunzina, Pablo, Bermejo‐Sánchez, Eva, Ruiz‐Pérez, Víctor L.

Source: Human mutation. 41(1):265-276

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100096238210.0x000001&indx=1&recIds=ETOCvdc_100096238210.0x000001

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

Authors: Abdel‐Salam, Ghada M. H., Sayed, Inas S. M., Afifi, Hanan H., Abdel‐Ghafar, Sherif F., Abouzaid, Maha R., Ismail, Samira I., Aglan, Mona S., Issa, Mahmoud Y., EL‐Bassyouni, Hala T., El‐Kamah, Ghada, Effat, Laila K., Eid, Maha, Zaki, Maha S., Temtamy, Samia A., Abdel‐Hamid, Mohamed S.

Source: American journal of medical genetics.Part A. 182(6):1407-1420

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107348284.0x000001&indx=1&recIds=ETOCvdc_100107348284.0x000001

Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

Authors: Zaki, Maha S., Otaify, Ghada A., Ismail, Samira, Issa, Mahmoud Y., El‐Ruby, Mona O., Sadek, Abdelrahim A., Ashaat, Engy A., El Saeidi, Sonia A., Aglan, Mona S., Temtamy, Samia, Abdel‐Hamid, Mohamed S.

Source: American journal of medical genetics.Part A. 182(12):2857-2866

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100110278582.0x000001&indx=1&recIds=ETOCvdc_100110278582.0x000001

Expanding the phenome and variome of skeletal dysplasia

Authors: Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., Alazami, Anas M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, Alshammari, Muneera, Alsagheir, Afaf, Seidahmed, Mohammed Zain, Sogati, Samira, Aglan, Mona S, Hamad, Muddathir H., Salih, Mustafa A., Hamed, Ahlam A., Alhashmi, Nadia, Nabil, Amira, Alfadli, Fatima, Abdel-Salam, Ghada M.H., Alkuraya, Hisham, Peitee, Winnie Ong, Keng, W.T., Qasem, Abdullah, Mushiba, Aziza M., Zaki, Maha S, Fassad, Mahmoud R., Alfadhel, Majid, Alexander, Saji, Sabr, Yasser, Temtamy, Samia, Ekbote, Alka V, Ismail, Samira, Hosny, Gamal Ahmed, Otaify, Ghada A., Amr, Khalda, Al Tala, Saeed, Khan, Arif O., Rizk, Tamer, Alaqeel, Aida, Alsiddiky, Abdulmonem, Singh, Ankur, Kapoor, Seema, Alhashem, Amal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

Source: In Genetics in Medicine December 2018 20(12):1609-1616

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

Authors: Abdel‐Hamid, Mohamed S., Ismail, Samira, Zaki, Maha S., Abdel‐Salam, Ghada M. H., Otaify, Ghada A., Issa, Mahmoud Y., Abdel‐Kader, Mohamed, Girgis, Marian, Aboul‐Ezz, Eman, Mazen, Inas, Aglan, Mona S., Temtamy, Samia A.

Source: American journal of medical genetics.Part A. 179(2):237-242

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100085867451.0x000001&indx=1&recIds=ETOCvdc_100085867451.0x000001

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

Authors: Elhossini, Rasha M.¹, Sayed, Inas M.², Hellal, Usama Saad², Mahmoud, Sarah A. M.³, Aglan, Mona S.¹, Hassib, Nehal F.^2,4, Abdel‐Hamid, Mohamed S.⁵, mohamadnrc@hotmail.com

Source: American Journal of Medical Genetics. Part A; Jan2024, Vol. 194 Issue 1, p39-45, 7p

Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants.

Authors: Hassan, Heba A., Essawi, Mona L., Esmail, Asmaa M., Eissa, Noura R., Aglan, Mona S., Temtamy, Samia A.

Source: Middle East Journal of Medical Genetics; Jan2024, Vol. 13 Issue 1, p9-15, 7p

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Authors: Fateen, Ekram M., El Mawgoud, Hanan Abd, Eissa, Noura R., Ibrahim, Mona M., Aglan, Mona S., Essawi, Mona L.

Source: Gene. 600:48-54

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100050495246.0x000001&indx=1&recIds=ETOCvdc_100050495246.0x000001

Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child

Authors: Ismail, Samira, Fayez, Alaaeldin, Otaify, Ghada A., Sayed, Inas, El Ruby, Mona O., Aglan, Mona S., Temtamy, Samia A.

Source: Middle East journal of medical genetics. 6(2):82-87

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100056707208.0x000001&indx=1&recIds=ETOCvdc_100056707208.0x000001

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

Authors: Ismail, Samira, Kamel, Alaa K., Eid, Maha M., Elruby, Mona O., Aglan, Mona S., Mekkawy, Mona K., Zaki, Maha S., Mohamed, Amal M., Helmy, Nivine A., Temtamy, Samia A.

Source: Middle East journal of medical genetics. 6(1):29-34

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100050354172.0x000001&indx=1&recIds=ETOCvdc_100050354172.0x000001

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Authors: Rice, Gillian I, Forte, Gabriella M A, Szynkiewicz, Marcin, Chase, Diana S, Aeby, Alec, Abdel-Hamid, Mohamed S, Ackroyd, Sam, Allcock, Rebecca, Bailey, Kathryn M, Balottin, Umberto, Barnerias, Christine, Bernard, Genevieve, Bodemer, Christine, Botella, Maria P, Cereda, Cristina, Chandler, Kate E, Dabydeen, Lyvia, Dale, Russell C, De Laet, Corinne, De Goede, Christian G E L, del Toro, Mireia, Effat, Laila, Enamorado, Noemi Nunez, Fazzi, Elisa, Gener, Blanca, Haldre, Madli, Lin, Jean-Pierre S-M, Livingston, John H, Lourenco, Charles Marques, Marques, Wilson, Jr, Oades, Patrick, Peterson, Pärt, Rasmussen, Magnhild, Roubertie, Agathe, Schmidt, Johanna Loewenstein, Shalev, Stavit A, Simon, Rogelio, Spiegel, Ronen, Swoboda, Kathryn J, Temtamy, Samia A, Vassallo, Grace, Vilain, Catheline N, Vogt, Julie, Wermenbol, Vanessa, Whitehouse, William P, Soler, Doriette, Olivieri, Ivana, Orcesi, Simona, Aglan, Mona S, Zaki, Maha S, Abdel-Salam, Ghada M H, Vanderver, Adeline, Kisand, Kai, Rozenberg, Flore, Lebon, Pierre, Crow, Yanick J

Source: In Lancet Neurology December 2013 12(12):1159-1169

Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosis

Authors: Temtamy, Samia A., Aglan, Mona S., Otaify, Ghada A., Abdel-Hamid, Mohamed, Ismail, Somaia, Makrythanasis, Periklis, Hamamy, Hanan, Antonarakis, Stylianos E.

Source: Middle East journal of medical genetics. 4(1):18-23

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100050741370.0x000001&indx=1&recIds=ETOCvdc_100050741370.0x000001

Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation

Authors: Aglan, Mona S., Abdel-Hamid, Mohamed S., Otaify, Ghada A., Ismail, Somaia M., Effat, Laila K., Temtamy, Samia A.

Source: Middle East journal of medical genetics. 4(1):7-12

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100050741333.0x000001&indx=1&recIds=ETOCvdc_100050741333.0x000001

Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.

Authors: Abdel-Hamid, Mohamed S., Elhossini, Rasha M., Otaify, Ghada A., Abdel-Ghafar, Sherif F., Aglan, Mona S.

Source: Osteoporosis International; Jul2022, Vol. 33 Issue 7, p1501-1510, 10p, 2 Color Photographs, 2 Diagrams, 1 Chart

Subject Terms: OSTEORADIOGRAPHY, BONE abnormalities, GENETIC mutation, DIPHOSPHONATES, INTRAVENOUS therapy, ORAL drug administration, CELL receptors, GLIOMAS, OSTEOPOROSIS, MOLECULAR biology, TREATMENT effectiveness, BONE density, BONE fractures, PHENOTYPES, SYMPTOMS, EVALUATION

Geographic Terms: EGYPT

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.

Authors: Kague, Erika, Turci, Francesco, Newman, Elis, Yang, Yushi, Brown, Kate Robson, Aglan, Mona S., Otaify, Ghada A., Temtamy, Samia A., Ruiz-Perez, Victor L., Cross, Stephen, Royall, C. Patrick, Witten, P. Eckhard, Hammond, Chrissy L.

Source: Bone Research; 8/31/2021, Vol. 9 Issue 1, p1-16, 16p

Subject Terms: INTERVERTEBRAL disk diseases, BACKACHE, BONE density, LABORATORY zebrafish, DRUG development