日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Psoriasiform Skin Lesions and Dental Abnormalities

银屑病样皮肤病变和牙齿异常

Al Maqbali, Huda; Otaify, Ghada; Al-Mullahi, Ali; Al Musalhi, Buthaina

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

SCNM1 基因突变会导致口面指综合征,这是由于影响初级纤毛的微小内含子剪接缺陷所致

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, Umu

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

利用斑马鱼椎间盘退变的三维评估方法,可以发现引发椎间盘疾病的骨密度变化。

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

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

首例两例因CANT1纯合突变导致Desbuquois发育不良的埃及患者报告

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

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

PRKACA 和 PRKACB 基因的种系变异和嵌合变异会导致多发性先天性畸形综合征

Palencia-Campos, Adrian; Aoto, Phillip C; Machal, Erik M F; Rivera-Barahona, Ana; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Van Hul, Wim; Huber, Celine; Bonneau, Dominique; Hildebrand, Michael S; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F; Schneider, Amy L; Scheffer, Ingrid E; Kibæk, Maria; Kristiansen, Britta S; Issa, Mahmoud Y; Mehrez, Mennat I; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Skålhegg, Bjørn Steen; Otaify, Ghada A; Temtamy, Samia; Aglan, Mona; Jønch, Aia E; De Luca, Alessandro; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, Alban; Wallis, Mathew; Lapunzina, Pablo; Herberg, Friedrich W; Taylor, Susan S; Ruiz-Perez, Victor L

Genomic and phenotypic delineation of congenital microcephaly

先天性小头畸形的基因组和表型特征

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

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

胶原脯氨酰羟基化复合物受损导致的细胞应激可通过分子伴侣 4-苯基丁酸得到挽救

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

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)

颌骨干发育不良:伴有anoctamin基因(ANO5)新型杂合突变的严重非典型表现

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

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

隐性成骨不全症中的细胞骨架和核层病变:功能蛋白质组学视角

Assunta Gagliardi, Roberta Besio, Chiara Carnemolla, Claudia Landi, Alessandro Armini, Mona Aglan, Ghada Otaify, Samia A Temtamy, Antonella Forlino, Luca Bini, Laura Bianchi

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

散发性或常染色体隐性成骨不全患者的分子谱和鉴别诊断

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