Brachydactyly

door Temtamy, Samia A, Aglan, Mona S
Gepubliceerd in 2008

AB002. Human genetics at the National Research Centre in Egypt: history, achievements and challenges

door El Gammal, Mona, Aglan, Mona, Temtamy, Samia
Gepubliceerd in Ann Transl Med (2017)

AB030. Study of bone turnover markers and treatment monitoring in osteogenesis imperfecta

door Gouda, Amr, Temtamy, Samia, Ali, Ola, Nazim, Walaa, Aglan, Mona, Otaify, Ghada
Gepubliceerd in Ann Transl Med (2017)

Dyggve–Melchior–Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

door Aglan, Mona S., Temtamy, Samia A., Fateen, Ekram, Ashour, Adel M., Eldeeb, Khamis, Hosny, Gamal A.
Gepubliceerd in 2009

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

door Fayez, Alaaeldin, Aglan, Mona, Esmaiel, Nora, El Zanaty, Taher, Abdel Kader, Mohamed, El Ruby, Mona
Gepubliceerd in Biomed Res Int (2015)

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

door Gagliardi, Assunta, Besio, Roberta, Carnemolla, Chiara, Landi, Claudia, Armini, Alessandro, Aglan, Mona, Otaify, Ghada, Temtamy, Samia A., Forlino, Antonella, Bini, Luca, Bianchi, Laura
Gepubliceerd in J Proteomics (2017)

A scoring system for the assessment of clinical severity in osteogenesis imperfecta

door Aglan, Mona S., Hosny, Laila, El-Houssini, Rasha, Abdelhadi, Sawsan, Salem, Fadia, ElBanna, Rokia A. S., Awad, Seham A., Zaki, Moushira E., Temtamy, Samia A.
Gepubliceerd in 2012

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

door 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
Gepubliceerd in Dis Model Mech (2019)

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

door Lapunzina, Pablo, Aglan, Mona, Temtamy, Samia, Caparrós-Martín, José A., Valencia, Maria, Letón, Rocío, Martínez-Glez, Victor, Elhossini, Rasha, Amr, Khalda, Vilaboa, Nuria, Ruiz-Perez, Victor L.
Gepubliceerd in 2010

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

door Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Samia, Alkuraya, Fowzan S.
Gepubliceerd in 2013

Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

door Martínez-Glez, Víctor, Valencia, Maria, Caparrós-Martín, José A., Aglan, Mona, Temtamy, Samia, Tenorio, Jair, Pulido, Veronica, Lindert, Uschi, Rohrbach, Marianne, Eyre, David, Giunta, Cecilia, Lapunzina, Pablo, Ruiz-Perez, Victor L.
Gepubliceerd in 2011

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

door Hanson, Dan, Murray, Philip G., Sud, Amit, Temtamy, Samia A., Aglan, Mona, Superti-Furga, Andrea, Holder, Sue E., Urquhart, Jill, Hilton, Emma, Manson, Forbes D.C., Scambler, Peter, Black, Graeme C.M., Clayton, Peter E.
Gepubliceerd in 2009

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

door Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd
Gepubliceerd in 2010

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

door 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.
Gepubliceerd in Hum Mol Genet (2015)

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

door Li, Yun, Pawlik, Barbara, Elcioglu, Nursel, Aglan, Mona, Kayserili, Hülya, Yigit, Gökhan, Percin, Ferda, Goodman, Frances, Nürnberg, Gudrun, Cenani, Asim, Urquhart, Jill, Chung, Boi-Dinh, Ismail, Samira, Amr, Khalda, Aslanger, Ayca D., Becker, Christian, Netzer, Christian, Scambler, Pete, Eyaid, Wafaa, Hamamy, Hanan, Clayton-Smith, Jill, Hennekam, Raoul, Nürnberg, Peter, Herz, Joachim, Temtamy, Samia A., Wollnik, Bernd
Gepubliceerd in 2010

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

door Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.
Gepubliceerd in Mol Genet Genomic Med (2016)

Mutations in WNT1 Cause Different Forms of Bone Fragility

door Keupp, Katharina, Beleggia, Filippo, Kayserili, Hülya, Barnes, Aileen M., Steiner, Magdalena, Semler, Oliver, Fischer, Björn, Yigit, Gökhan, Janda, Claudia Y., Becker, Jutta, Breer, Stefan, Altunoglu, Umut, Grünhagen, Johannes, Krawitz, Peter, Hecht, Jochen, Schinke, Thorsten, Makareeva, Elena, Lausch, Ekkehart, Cankaya, Tufan, Caparrós-Martín, José A., Lapunzina, Pablo, Temtamy, Samia, Aglan, Mona, Zabel, Bernhard, Eysel, Peer, Koerber, Friederike, Leikin, Sergey, Garcia, K. Christopher, Netzer, Christian, Schönau, Eckhard, Ruiz-Perez, Victor L., Mundlos, Stefan, Amling, Michael, Kornak, Uwe, Marini, Joan, Wollnik, Bernd
Gepubliceerd in 2013

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

door 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.
Gepubliceerd in Nat Commun (2019)

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

door Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip, Esko, Jeffrey D., Buschman, Matthew D., Fields, Seth J., Napolitano, Gennaro, Ozgul, R. Koksal, Sagiroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Gamal, Iman, Hadi, Sawsan Abdel, El Badawy, Amera, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., de Lonlay, Pascale, Gleeson, Joseph G.
Gepubliceerd in Nat Genet (2015)

Genomic and phenotypic delineation of congenital microcephaly

door Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel, Basma, Patel, Nisha, Al-Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Hamad, Muddathir, Tabarki, Brahim, Alwadei, Ali H., Alhazzani, Fahad, Bashiri, Fahad A., Kentab, Amal, Şahintürk, Serdar, Sherr, Elliott, Fregeau, Brieana, Sogati, Samira, Alshahwan, Saad Ali M., Alkhalifi, Salwa, Alhumaidi, Zainab, Temtamy, Samia, Aglan, Mona, Otaify, Ghada, Girisha, Katta M., Tulbah, Maha, Seidahmed, Mohammed Zain, Salih, Mustafa A., Abouelhoda, Mohamed, Momin, Afaque A., Saffar, Muna Al, Partlow, Jennifer N., Arold, Stefan T., Faqeih, Eissa, Walsh, Christopher, Alkuraya, Fowzan S.
Gepubliceerd in Genet Med (2018)