Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate
Besio, Roberta, Garibaldi, Nadia, Leoni, Laura, Cipolla, Lina, Sabbioneda, Simone, Biggiogera, Marco, Mottes, Monica, Aglan, Mona, Otaify, Ghada A, Temtamy, Samia A, Rossi, Antonio, Forlino, Antonella
Published in Disease models & mechanisms (01.06.2019)
Published in Disease models & mechanisms (01.06.2019)
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Journal Article
Expanding the phenome and variome of skeletal dysplasia
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.
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Journal Article
3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease
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
Published in Bone Research (31.08.2021)
Published in Bone Research (31.08.2021)
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Journal Article
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations
Elhossini, Rasha Moheb, Abdel‐Hamid, Mohamed S., Ashaat, Engy, Otaify, Ghada A., Dawoud, Heba, Elshimy, Khalid, El Ruby, Mona, Aglan, Mona
Published in Congenital anomalies (01.03.2022)
Published in Congenital anomalies (01.03.2022)
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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
Mohamed, Amal M., Kamel, Alaa K., Eid, Maha M., Eid, Ola M., Mekkawy, Mona, Hussein, Shymaa H., Zaki, Maha S., Esmail, Samira, Afifi, Hanan H., El‐Kamah, Ghada Y., Otaify, Ghada A., El‐Awady, Heba Ahmed, Elaidy, Aya, Essa, Mahmoud Y., El‐Ruby, Mona, Ashaat, Engy A., Hammad, Saida A., Mazen, Inas, Abdel‐Salam, Ghada M. H., Aglan, Mona, Temtamy, Samia
Published in Molecular genetics & genomic medicine (01.11.2021)
Published in Molecular genetics & genomic medicine (01.11.2021)
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Journal Article
Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation
Otaify, Ghada A., Al Baluki, Wafa, Al-Rashdi, Samiya, Al-Maawali, Almundher
Published in European journal of medical genetics (01.12.2022)
Published in European journal of medical genetics (01.12.2022)
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A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly
Makrythanasis, Periklis, Temtamy, Samia, Aglan, Mona S., Otaify, Ghada A., Hamamy, Hanan, Antonarakis, Stylianos E.
Published in Human mutation (01.08.2014)
Published in Human mutation (01.08.2014)
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Journal Article
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy
Abdel-Hamid, Mohamed S., Elhossini, Rasha M., Otaify, Ghada A., Abdel-Ghafar, Sherif F., Aglan, Mona S.
Published in Osteoporosis international (01.07.2022)
Published in Osteoporosis international (01.07.2022)
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Journal Article
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
Doyard, Mathilde, Bacrot, Séverine, Huber, Céline, Di Rocco, Maja, Goldenberg, Alice, Aglan, Mona S, Brunelle, Perrine, Temtamy, Samia, Michot, Caroline, Otaify, Ghada A, Haudry, Coralie, Castanet, Mireille, Leroux, Julien, Bonnefont, Jean-Paul, Munnich, Arnold, Baujat, Geneviève, Lapunzina, Pablo, Monnot, Sophie, Ruiz-Perez, Victor L, Cormier-Daire, Valérie
Published in Journal of medical genetics (01.04.2018)
Published in Journal of medical genetics (01.04.2018)
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Journal Article
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
Iturrate, Asier, Rivera-Barahona, Ana, Flores, Carmen-Lisset, Otaify, Ghada A., Elhossini, Rasha, Perez-Sanz, Marina L., Nevado, Julián, Tenorio-Castano, Jair, Triviño, Juan Carlos, Garcia-Gonzalo, Francesc R., Piceci-Sparascio, Francesca, De Luca, Alessandro, Martínez, Leopoldo, Kalaycı, Tugba, Lapunzina, Pablo, Altunoglu, Umut, Aglan, Mona, Abdalla, Ebtesam, Ruiz-Perez, Victor L.
Published in American journal of human genetics (06.10.2022)
Published in American journal of human genetics (06.10.2022)
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Journal Article
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Whyte, Michael P, McAlister, William H, Fallon, Michael D, Pierpont, Mary Ella, Bijanki, Vinieth N, Duan, Shenghui, Otaify, Ghada A, Sly, William S, Mumm, Steven
Published in Journal of bone and mineral research (01.04.2017)
Published in Journal of bone and mineral research (01.04.2017)
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Journal Article
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
Otaify, Ghada A., Abdel‐Hamid, Mohamed S., Hassib, Nehal F., Elhossini, Rasha M., Abdel‐Ghafar, Sherif F., Aglan, Mona S.
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
Horn, Denise, Fernández-Núñez, Elisa, Gomez-Carmona, Ricardo, Rivera-Barahona, Ana, Nevado, Julian, Schwartzmann, Sarina, Ehmke, Nadja, Lapunzina, Pablo, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Boschann, Felix, Ruiz-Perez, Victor L.
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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Journal Article
CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
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.
Published in American journal of medical genetics. Part A (01.08.2023)
Published in American journal of medical genetics. Part A (01.08.2023)
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Journal Article
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S, Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A, Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru-Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F, Martinez-Glez, Victor, Carvajal, Jaime J, Zong, Ruiting, Nelson, David L, Otaify, Ghada A, Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G, Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L
Published in Nature communications (15.02.2019)
Published in Nature communications (15.02.2019)
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Journal Article
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
Caparrós-Martín, José A, De Luca, Alessandro, Cartault, François, Aglan, Mona, Temtamy, Samia, Otaify, Ghada A, Mehrez, Mennat, Valencia, María, Vázquez, Laura, Alessandri, Jean-Luc, Nevado, Julián, Rueda-Arenas, Inmaculada, Heath, Karen E, Digilio, Maria Cristina, Dallapiccola, Bruno, Goodship, Judith A, Mill, Pleasantine, Lapunzina, Pablo, Ruiz-Perez, Victor L
Published in Human molecular genetics (15.07.2015)
Published in Human molecular genetics (15.07.2015)
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Journal Article
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)
Otaify, Ghada A., Whyte, Michael P., Gottesman, Gary S., McAlister, William H., Eric Gordon, J., Hollander, Abby, Andrews, Marisa V., El-Mofty, Samir K., Chen, Wei-Shen, Veis, Deborah V., Stolina, Marina, Woo, Albert S., Katsonis, Panagiotis, Lichtarge, Olivier, Zhang, Fan, Shinawi, Marwan
Published in Bone (New York, N.Y.) (01.02.2018)
Published in Bone (New York, N.Y.) (01.02.2018)
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Journal Article
Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
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.
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Journal Article
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations
Thomas, Manal M., Ashaat, Engy A., Otaify, Ghada A., Ismail, Samira, Essawi, Mona L., Abdel-Hamid, Mohamed S., Hassan, Heba A., Alsaiedi, Sonia A., Aglan, Mona, El Ruby, Mona O., Temtamy, Samia
Published in Molecular syndromology (01.08.2021)
Published in Molecular syndromology (01.08.2021)
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Journal Article
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion
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.
Published in American journal of medical genetics. Part A (01.02.2019)
Published in American journal of medical genetics. Part A (01.02.2019)
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