Результати пошуку - Mona Aglan

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  1. 1
    Consanguinity and genetic disorders in Egypt

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

    Опубліковано 2012
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  2. 2
    Brachydactyly

    Brachydactyly за авторством Samia A. Temtamy, Mona Aglan

    Опубліковано 2008
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  3. 3
    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 за авторством Periklis Makrythanasis, Samia A. Temtamy, Mona Aglan, Ghada A. Otaify, Hanan Hamamy, Stylianos E. Antonarakis

    Опубліковано 2014
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  4. 4
    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 за авторством 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

    Опубліковано 2019
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  5. 5
    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 за авторством 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

    Опубліковано 2010
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  6. 6
    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 за авторством 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

    Опубліковано 2009
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  7. 7
    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 за авторством 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

    Опубліковано 2011
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  8. 8
    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 за авторством 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

    Опубліковано 2021
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  9. 9
    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 за авторством 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

    Опубліковано 2013
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  10. 10
    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 за авторством 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

    Опубліковано 2012
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  11. 11
    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 за авторством 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

    Опубліковано 2009
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  12. 12
    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 за авторством 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

    Опубліковано 2012
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  13. 13
    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 за авторством 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

    Опубліковано 2010
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  14. 14
    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 за авторством 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

    Опубліковано 2015
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  15. 15
    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 за авторством 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

    Опубліковано 2010
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  16. 16
    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 за авторством 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

    Опубліковано 2016
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  17. 17
    Mutations in WNT1 Cause Different Forms of Bone Fragility

    Mutations in WNT1 Cause Different Forms of Bone Fragility за авторством 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

    Опубліковано 2013
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  18. 18
    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families за авторством Periklis Makrythanasis, Mari Nelis, Federico Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia A. Temtamy, André Mégarbané, Amira Masri, Mona Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos A. Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou‐Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al‐Allawi, Abdelaziz Sefiani, Sana' A. S. Al Hait, Siham Chafai Elalaoui, Nadine Jalkh, Lihadh Al‐Gazali, Fatma Al‐Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, D.N. Cooper, Hanan Hamamy, Stylianos E. Antonarakis

    Опубліковано 2014
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  19. 19
    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report за авторством Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, Samia A. Temtamy, G. Cara Romeo, Leo P. ten Kate, Robin L. Bennett, Alison Shaw, André Mégarbané, Cornelia M. van Duijn, Heli Bathija, Siv Fokstuen, Eric Engel, Joël Zlotogora, Emmanouil T. Dermitzakis, Armand Bottani, Sophie Dahoun, Michael A. Morris, Steve Arsenault, Mona Aglan, Mubasshir Ajaz, Ayad Alkalamchi, Dhekra Alnaqeb, Mohamed K. Alwasiyah, Nawfal Anwer, Rawan I. Awwad, Melissa Bonnefin, Michael Corry, Lorraine Gwanmesia, Gulshan Karbani, Maryam Mostafavi, Tommaso Pippucci, Emmanuelle Ranza-Boscardin, Bruno Reversade, Saghira Malik Sharif, Marieke Teeuw, A.H. Bittles

    Опубліковано 2011
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  20. 20
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction за авторством Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    Опубліковано 2015
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