Search Results - Samia A. Temtamy

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  1. 1
    A genetic epidemiological study of malformations at birth in Egypt

    A genetic epidemiological study of malformations at birth in Egypt by Samia A. Temtamy

    Published 1998
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  2. 2
    Consanguinity and genetic disorders in Egypt

    Consanguinity and genetic disorders in Egypt by Samia A. Temtamy, Mona Aglan

    Published 2012
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  3. 3
    Brachydactyly

    Brachydactyly by Samia A. Temtamy, Mona Aglan

    Published 2008
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  4. 4
    A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

    A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly by Periklis Makrythanasis, Samia A. Temtamy, Mona Aglan, Ghada A. Otaify, Hanan Hamamy, Stylianos E. Antonarakis

    Published 2014
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  5. 5
    Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

    Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate by Roberta Besio, Nadia Garibaldi, Laura Leoni, Lina Cipolla, Simone Sabbioneda, Marco Biggiogera, Monica Mottes, Mona Aglan, Ghada A. Otaify, Samia A. Temtamy, Antonio Rossi, Antonella Forlino

    Published 2019
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  6. 6
    Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

    Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta by Pablo Lapunzina, Mona Aglan, Samia A. Temtamy, José A. Caparrós‐Martín, Eulalia Valencia, Rocío Letón, Víctor Martínez‐Glez, Rasha M. Elhossini, Khalda Amr, Nuria Vilaboa, Víctor L. Ruiz‐Pérez

    Published 2010
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  7. 7
    The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

    The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 by Dan Hanson, Philip Murray, Amit Sud, Samia A. Temtamy, Mona Aglan, Andrea Superti‐Furga, Sue Holder, Jill Urquhart, Emma Hilton, Forbes D.C. Manson, Peter Scambler, Graeme Black, Peter Clayton

    Published 2009
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  8. 8
    Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

    Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta by Víctor Martínez‐Glez, Eulalia Valencia, José A. Caparrós‐Martín, Mona Aglan, Samia A. Temtamy, Jair Tenorio, Verónica Pulido, Uschi Lindert, Marianne Rohrbach, David R. Eyre, Cecilia Giunta, Pablo Lapunzina, Víctor L. Ruiz‐Pérez

    Published 2011
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  9. 9
    3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

    3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease by Érika Kague, Francesco Turci, Elis Newman, Yushi Yang, Kate Robson Brown, Mona Aglan, Ghada A. Otaify, Samia A. Temtamy, Víctor L. Ruiz‐Pérez, Stephen Cross, C. Patrick Royall, P. Eckhard Witten, Chrissy L. Hammond

    Published 2021
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  10. 10
    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome by Ranad Shaheen, Mona Aglan, Kim M. Keppler‐Noreuil, Eissa Faqeih, Shinu Ansari, Kim Horton, Adel M. Ashour, Maha S. Zaki, Fatema Alzahrani, Anna M. Cueto‐González, Ghada M. H. Abdel‐Salam, Samia A. Temtamy, Fowzan S. Alkuraya

    Published 2013
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  11. 11
    Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

    Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum by Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan, Eulalia Valencia, Víctor Martínez‐Glez, María Juliana Ballesta‐Martínez, Vanesa López‐González, Adel M. Ashour, Khalda Amr, Verónica Pulido, Encarna Guillén‐Navarro, Pablo Lapunzina, José A. Caparrós‐Martín, Víctor L. Ruiz‐Pérez

    Published 2012
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  12. 12
    Widening the mutation spectrum of<i>EVC</i>and<i>EVC2</i>: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

    Widening the mutation spectrum of<i>EVC</i>and<i>EVC2</i>: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling by Eulalia Valencia, Pablo Lapunzina, Derek Lim, Raffaella Zannolli, Deborah Bartholdi, Bernd Wollnik, Othman Al-Ajlouni, Suhair S Eid, Helen Cox, Sabrina Buoni, Joussef Hayek, María Luisa Martínez‐Frías, Antonio Pérez Aytés, Samia A. Temtamy, Mona Aglan, Judith A. Goodship, Víctor L. Ruiz‐Pérez

    Published 2009
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  13. 13
    Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

    Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling by Dan Hanson, Philip Murray, Tessa Coulson, Amit Sud, Ajibola Omokanye, Emily Stratta, Faezeh Sakhinia, C Bonshek, Laura C. Wilson, Emma Wakeling, Samia A. Temtamy, Mona Aglan, Elisabeth Rosser, Sahar Mansour, Atilano Carcavilla, Sheela Nampoothiri, Waqas Khan, Indraneel Banerjee, Kate Chandler, Graeme Black, Peter Clayton

    Published 2012
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  14. 14
    Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

    Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling by Yun Li, Kathrin Laue, Samia A. Temtamy, Mona Aglan, Leman Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma Wakeling, Oliver Quarrell, Ingelore Baessmann, Matthew B. Lanktree, M. Yılmaz, Robert A. Hegele, Khalda Amr, Klaus W. May, Peter Nürnberg, A. Kemal Topaloğlu, Matthias Hammerschmidt, Bernd Wollnik

    Published 2010
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  15. 15
    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

    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 by José A. Caparrós‐Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, Mennat Mehrez, Eulalia Valencia, Laura Vázquez, Jean-Luc Alessandri, Julián Nevado, Inmaculada Rueda‐Arenas, Karen E. Heath, M. Cristina Digilio, Bruno Dallapiccola, Judith A. Goodship, Pleasantine Mill, Pablo Lapunzina, Víctor L. Ruiz‐Pérez

    Published 2015
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  16. 16
    Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

    Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis by Carmel Toomes, Jacqueline A. James, Andrew J. Wood, Chu Wu, D. McCormick, Nicholas Lench, Chelsee Hewitt, Leanne Moynihan, Emma Roberts, C. Geoffrey Woods, Alexander F. Markham, Melanie Wong, Richard P Widmer, Khaled Abdel Ghaffar, Michael Pemberton, Ibtessam R. Hussein, Samia A. Temtamy, Robin Davies, Andrew Read, Philip Sloan, Michael J. Dixon, Nalin Thakker

    Published 1999
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  17. 17
    Mutations in ANTXR1 Cause GAPO Syndrome

    Mutations in ANTXR1 Cause GAPO Syndrome by Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, Maha S. Zaki, Amit Chaudhary, Enrique Zudaire, Lenka Nosková, Veronika Barešová, Anna Přistoupilová, Kateřina Hodaňová, Jana Sovová, Helena Hůlková, Lenka Piherová, Jayne Y. Hehir‐Kwa, Deepthi De Silva, Manouri P Senanayake, Sameh Farrag, J Zeman, Pavel Martásek, A Baxová, Hanan H. Afifi, Brad St. Croix, Han G. Brunner, Samia A. Temtamy, Stanislav Kmoch

    Published 2013
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  18. 18
    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome by Yun Li, Barbara Pawlik, Nursel Elçioğlu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Perçin, Frances R. Goodman, Gudrun Nürnberg, Asım Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Amr, Ayça Dilruba Aslanger, Christian Becker, Christian Netzer, Peter Scambler, Wafaa Eyaid, Hanan Hamamy, Jill Clayton‐Smith, Raoul C. M. Hennekam, Peter Nürnberg, Joachim Herz, Samia A. Temtamy, Bernd Wollnik

    Published 2010
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  19. 19
    Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

    Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta by José A. Caparrós‐Martín, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, Eulalia Valencia, Julián Nevado, Elena Vallespín, Ángela del Pozo, Carmen Prior de Castro, Lucia Calatrava‐Ferreras, Pilar Gutierrez, Ana M. Bueno, Belén Sagastizábal, Encarna Guillén‐Navarro, María Juliana Ballesta‐Martínez, Vanesa López González, Sarenur Yilmaz Basaran, Ruksan Büyükoğlan, Bilge Sarıkepe, Cecilia Espinoza‐Valdez, Francisco Cammarata‐Scalisi, Víctor Martínez‐Glez, Karen E. Heath, Pablo Lapunzina, Víctor L. Ruiz‐Pérez

    Published 2016
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  20. 20
    Mutations in WNT1 Cause Different Forms of Bone Fragility

    Mutations in WNT1 Cause Different Forms of Bone Fragility by Katharina Keupp, Filippo Beleggia, Hülya Kayserili, Aileen M. Barnes, Magdalena Steiner, Oliver Semler, Björn Fischer‐Zirnsak, Gökhan Yigit, Claudia Y. Janda, Jutta Becker, Stefan Breer, Umut Altunoğlu, Johannes Grünhagen, Peter Krawitz, Jochen Hecht, Thorsten Schinke, Elena Makareeva, Ekkehart Lausch, Tufan Çankaya, José A. Caparrós‐Martín, Pablo Lapunzina, Samia A. Temtamy, Mona Aglan, Bernhard Zabel, Peer Eysel, Friederike Koerber, Sergey Leikin, K. Christopher García, Christian Netzer, Eckhard Schönaü, Víctor L. Ruiz‐Pérez, Stefan Mundlos, Michael Amling, Uwe Kornak, Joan C. Marini, Bernd Wollnik

    Published 2013
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