Showing 281 - 300 results of 323 for search '"craniofacial"', query time: 0.04s Refine Results
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    Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family by Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit

    Published 2024-05-01
    “…Frank–Ter Haar syndrome (FTHS) is a rare genetic hereditary autosomal recessive disorder characterized by defective malformation of cardiovascular, craniofacial, and skeletal system. Mutations in the SH3PXD2B gene are a common cause in the development of FTHS. …”
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    Article
  3. 283

    Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome by Masatake Toshimitsu, Shinichi Nagaoka, Shuusaku Kobori, Maki Ogawa, Fumihiko Suzuki, Takema Kato, Shunsuke Miyai, Rie Kawamura, Hidehito Inagaki, Hiroki Kurahashi, Jun Murotsuki

    Published 2019-01-01
    “…Chromosome 1p36 deletion syndrome is the most common subtelomeric terminal deletion syndrome, recognized postnatally from typical craniofacial features. However, the influence of chromosome 1p36 deletion on fetal movements remains unknown. …”
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  4. 284

    FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia by Anne Morice, Amélie de La Seiglière, Alexia Kany, Roman H. Khonsari, Morad Bensidhoum, Maria-Emilia Puig-Lombardi, Laurence Legeai Mallet

    Published 2025-01-01
    “…FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, we analyzed the impact of Fgfr2- and Fgfr3-activating mutations on mandibular bone formation and endochondral bone repair after non-stabilized mandibular fractures in mouse models of Crouzon syndrome (Crz) and hypochondroplasia (Hch). …”
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    Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish by Linxue Meng, Zhixu Fang, Li Jiang, Yinglan Zheng, Siqi Hong, Yu Deng, Lingling Xie

    Published 2025-01-01
    “…Heterozygous knockdown zebrafish exhibit phenotypes similar to those of patients, including craniofacial dysmorphology (increased eye distance, increased Basihyal’s length, increased Ceratohyal’s angle), skeletal abnormalities (reduced number of mineralized bones), developmental delay (reduced adaptability under light‒dark stimuli suggesting abnormal locomotion, orientation, and social behavior), and electrophysiological abnormalities. …”
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    Diagnosis and treatment of obstructive sleep apnea by Natalia Myśliwiec, Michał Pniak, Paweł Miklis, Maciej Mawlichanów, Aleksandra Ciesielska, Aleksandra Sieradzka, Krzysztof Szerej, Alicja Kot, Marta Wojtczak, Adrian Różycki

    Published 2025-01-01
    “…Common in middle-aged and older adults, its pathogenesis is multifactorial, encompassing obesity, craniofacial abnormalities, altered upper airway muscle function, pharyngeal neuropathy, and fluid redistribution to the neck. …”
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    A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report by Xin Liu, Kaiqing Liu, Lifu Hu, Zixiao Liu, Xinhua Liu, Jiantao Wang

    Published 2025-01-01
    “…Results: This study describes the case of a 6-month-old infant diagnosed with LDS with typical craniofacial abnormalities, developmental delay, and a dilated aortic sinus (19 mm; Z-score 3.5). …”
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  17. 297

    Global, regional, and national survey on burden and Quality of Care Index (QCI) of orofacial clefts: Global burden of disease systematic analysis 1990-2019. by Ahmad Sofi-Mahmudi, Erfan Shamsoddin, Sahar Khademioore, Yeganeh Khazaei, Amin Vahdati, Marcos Roberto Tovani-Palone

    Published 2025-01-01
    “…<h4>Background</h4>Orofacial clefts are the most common craniofacial anomalies that include a variety of conditions affecting the lips and oral cavity. …”
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    Estimating Maxillary Sinus Volume Using Smartphone Camera by Christoforos Meliadis, Emily Feng, Ezekiel Johnson, Wendy Zhu, Paramesh Gopi, Vivek Mohan, Peter H. Hwang, Jacob Johnson, Bryant Y. Lin

    Published 2025-01-01
    “…Utilizing Apple&#x0027;s ARKit for 3D facial mesh modeling, we estimated sinus dimensions based on established craniofacial landmarks and calculated the volume through a geometric approximation of the maxillary sinus. …”
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    Oral manifestations of Nance Horan syndrome: A systematic review of case reports by Ankita Mathur, Sapna Negi, Snehasish Tripathy, Shalini Aggarwal, Felix Amekpor, Vini Mehta

    Published 2024-09-01
    “…Therefore, we undertake a comprehensive review of the existing literature on the oral manifestations of NHS and, its definitive diagnosis based on oral and craniofacial symptoms. An electronic search of PubMed-MEDLINE, Embase, Scopus, and Google Scholar databases was done to retrieve case reports documenting oral anomalies related to NHS at the time of presentation. …”
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