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Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Front Genet
April 2024
Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis, Tunisia.
Article Synopsis
- * A 14-year study analyzed over 700 patients with syndromic deafness (SD) in Tunisia, using advanced genetic sequencing techniques to identify various genetic conditions, including Usher syndrome and H syndrome.
- * The research highlights challenges in distinguishing between non-syndromic and syndromic HI and reveals that nearly 50% of Tunisian SD cases relate to rare inherited metabolic disorders, providing valuable insights for improving molecular diagnoses in Tunisia and North Africa.
Fibrous dysplasia and cherubism.
Indian J Plast Surg
March 2016
Department of Plastic and Reconstructive Surgery, SIPS Hospital, Lucknow, Uttar Pradesh, India.
Fibrous dysplasia (FD) is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation.
View Article and Find Full Text PDFSecond cranio-facial malignancies in hereditary retinoblastoma survivors previously treated with radiation therapy: clinic and radiologic characteristics and survival outcomes.
Eur J Cancer
May 2013
Department of Radiology, VU University Medical Center, Amsterdam, The Netherlands.
Introduction: Hereditary retinoblastoma survivors have an increased risk for cranio-facial second primary tumours (SPT), especially after treatment with external beam radiotherapy (EBRT). This multicentre study evaluates the clinical and imaging characteristics and outcomes of cranio-facial SPTs in irradiated retinoblastoma survivors.
Patients And Methods: Clinical and radiological data of 42 hereditary retinoblastoma patients with 44 second and third malignancies were reviewed.
[Neurophysiological aspects of Proteus syndrome].
Rev Neurol
October 1997
Servicio de Neurofisiología Clínica, Hospital Ramón y Cajal, Madrid, España.
Introduction: The Proteus Syndrome was defined in 1983 by Wiedeman. However, the first case mentioned in the literature was that of Joseph Merrick, the Elephant Man, presented by Sir Frederick Treves in 1884. It is a rare pathological condition.
View Article and Find Full Text PDFReduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene.
Proc Natl Acad Sci U S A
November 1991
Department of Molecular Genetics, University of Texas, M.D. Anderson Cancer Center, Houston 77030.
We have generated transgenic mice harboring a glycine-to-cysteine mutation in residue 85 of the triple helical domain of mouse type II collagen. The offspring of different founders displayed a phenotype of severe chondrodysplasia characterized by short limbs and trunk, cranio-facial deformities, and cleft palate. The affected pups died of acute respiratory distress caused by an inability to inflate lungs at birth.
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