Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Ghada, A Otaify"'
Autor:
Erika Kague, Francesco Turci, Elis Newman, Yushi Yang, Kate Robson Brown, Mona S. Aglan, Ghada A. Otaify, Samia A. Temtamy, Victor L. Ruiz-Perez, Stephen Cross, C. Patrick Royall, P. Eckhard Witten, Chrissy L. Hammond
Publikováno v:
Bone Research, Vol 9, Iss 1, Pp 1-16 (2021)
Abstract Back pain is a common condition with a high social impact and represents a global health burden. Intervertebral disc disease (IVDD) is one of the major causes of back pain; no therapeutics are currently available to reverse this disease. The
Externí odkaz:
https://doaj.org/article/8819c17624e646f48aa4bc6e7acfe858
Autor:
Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Me
Externí odkaz:
https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b
Autor:
María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
Externí odkaz:
https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8
Autor:
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
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 6 (2019)
Osteogenesis imperfecta (OI) types VII, VIII and IX, caused by recessive mutations in cartilage-associated protein (CRTAP), prolyl-3-hydroxylase 1 (P3H1) and cyclophilin B (PPIB), respectively, are characterized by the synthesis of overmodified colla
Externí odkaz:
https://doaj.org/article/9f97c041deb94e468d25a67f4be54661
Autor:
Ghada A. Otaify, Rasha M. Elhossini, Sherif F. Abdel‐Ghafar, Inas M. Sayed, Ghada M. H. Abdel‐Salam, Mona S. Aglan, Mohamed S. Abdel‐Hamid
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e3fa57f93748c9d68a11cc5e5f3ef2d
https://doi.org/10.1002/ajmg.a.63246
https://doi.org/10.1002/ajmg.a.63246
Autor:
Ghada A. Otaify, Mohamed S. Abdel‐Hamid, Nehal F. Hassib, Rasha M. Elhossini, Sherif F. Abdel‐Ghafar, Mona S. Aglan
Publikováno v:
American Journal of Medical Genetics Part A. 188:1815-1825
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bc98ff221888f0fe65cfee3ded3239c
https://doi.org/10.1002/ajmg.a.62718
https://doi.org/10.1002/ajmg.a.62718
Autor:
Mohamed S. Abdel-Hamid, Rasha M. Elhossini, Ghada A. Otaify, Sherif F. Abdel-Ghafar, Mona S. Aglan
Publikováno v:
Osteoporosis International. 33:1501-1510
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dce6fb0863248d11a2302290bd7c088
https://doi.org/10.1007/s00198-022-06313-1
https://doi.org/10.1007/s00198-022-06313-1
Autor:
Rasha Moheb Elhossini, Mohamed S. Abdel‐Hamid, Engy Ashaat, Ghada A. Otaify, Heba Dawoud, Khalid Elshimy, Mona El Ruby, Mona Aglan
Publikováno v:
Congenital Anomalies. 62:68-77
Mutations in the PORCN gene cause an X-linked dominant condition; focal dermal hypoplasia (FDH), characterized by atrophic skin, pigmented skin lesions in addition to several ocular and skeletal malformations. FDH is rare with around 275 cases report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c72eb8d907aef88493b24b1f6e954aa
https://doi.org/10.1111/cga.12457
https://doi.org/10.1111/cga.12457
Autor:
Asier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, Ghada A. Otaify, Rasha Elhossini, Marina L. Perez-Sanz, Julián Nevado, Jair Tenorio-Castano, Juan Carlos Triviño, Francesc R. Garcia-Gonzalo, Francesca Piceci-Sparascio, Alessandro De Luca, Leopoldo Martínez, Tugba Kalaycı, Pablo Lapunzina, Umut Altunoglu, Mona Aglan, Ebtesam Abdalla, Victor L. Ruiz-Perez
Publikováno v:
Am J Hum Genet
Orofaciodigital syndrome (OFD) is a genetically heterogeneous ciliopathy characterized by anomalies of the oral cavity, face, and digits. We describe individuals with OFD from three unrelated families having bi-allelic loss-of-function variants in SC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac2eebb2fb424ec12f5591bd111872b
https://europepmc.org/articles/PMC9606384/
https://europepmc.org/articles/PMC9606384/
Publikováno v:
European journal of medical genetics. 65(12)
Spondyloepimetaphyseal dysplasia-Shohat type (SEMDSH) is an ultra-rare type of skeletal dysplasia. Only nine patients from six families have been reported and genetically confirmed to have biallelic pathogenic variants in the DDRGK1 gene. We present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8b76128aa78c8aaa1edea9124e05944
https://pubmed.ncbi.nlm.nih.gov/36243336
https://pubmed.ncbi.nlm.nih.gov/36243336