Results 81 to 90 of about 58,186 (351)

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

Management of post‐implant fibrous dysplasia in the maxilla: A case study

Clinical Advances in Periodontics, EarlyView.
Abstract Background Fibrous dysplasia is generally rare, and even rarer in older adults. Special care is needed when altering the alveolar bone in these cases, especially if an implant is involved. This case study highlights such a scenario. Methods This case study details the experience of a 63‐year‐old African American female who presented with a ...
Yousef Taha Y. Amrou, Anass M. Koleilat, Abdusalam E. Alrmali, Felipe Nor, Hom‐Lay Wang   +4 more
wiley   +1 more source

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years

Clinical Advances in Periodontics, EarlyView.
Abstract Background Enamel‐renal‐gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis.
John Rong Hao Tay, Preethi Balan, Chaminda Jayampath Seneviratne   +2 more
wiley   +1 more source

Voclosporin‐induced gingival enlargement: A case report

Clinical Advances in Periodontics, EarlyView.
Abstract Background Drug‐influenced gingival enlargement (DIGE) is a recognized adverse effect of certain medications, particularly immunosuppressants like cyclosporin and tacrolimus. However, there have been no documented cases of DIGE associated with voclosporin, a newer calcineurin inhibitor used primarily to treat lupus nephritis.
Francesca Racca, Jessica M. Greco, Dimitris N. Tatakis   +2 more
wiley   +1 more source

Prevalence of Dental Anomalies in Deciduous and Permanent Dentition of Cleft Lip and Palate Patients

Pesquisa Brasileira em Odontopediatria e Clínica Integrada
Objective: To evaluate the association between oral cleft (OC) phenotypes and dental abnormalities (DA) in both permanent and deciduous dentition of patients with Cleft Lip and/or Palate (CL/P).
Bernardo Olsson, Letícia Fontanella Fernandes, Halina Grossmann Pereira, Beatriz Jervásio Silva, Nicoly Ghilardi Cardoso, Giuseppe Valduga Cruz, Caroline de Souza Mendes, Rafaela Scariot   +7 more
doaj  

Influence of Environmental Factors on the Presence and Severity of Molar Incisor Hypomineralization

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2021
Objective: To assess the association between environmental factors during pregnancy and early childhood with the presence and severity of Molar Incisor Hipomineralization (MIH).
Fernanda Mafei Felix da Silva, Fernanda Gabriela de Fatima Vieira, Thais Rodrigues Campos Soares, Flavia Martinez de Carvalho, Alexandre Rezende Vieira, Marcelo de Castro Costa   +5 more
doaj  

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Radiographic study of patients with ectodermal dysplasia and partial

Indian Journal of Dental Research, 2012
Aim: To investigate the association between gender and type of cleft with hypodontia and to verify if the presence of the cleft interferes with hypodontia of one or more type of teeth in patients with ectodermal dysplasia attending the Hospital for ...
Rafaela Rangel Rosa, Márcia Morato Janeiro, Samira Esteves Afonso Camargo, Carolina de Oliveira Tocalino Walter Porto, Eliane Maria Kreich, João César Guimarães Henriques   +5 more
doaj   +1 more source

Efficacy of a Dissolvable Strip with Calcium Sodium Phosphosilicate (NovaMin®) in Providing Rapid Dentine Hypersensitivity Relief [PDF]

, 2019
Objective To evaluate the efficacy of a dissolvable strip containing 15% w/w calcium sodium phosphosilicate (CSPS) (Novamin®) in providing rapid relief from dentine hypersensitivity (DH).
Amini, Pejmon, Atassi, Mounir, Gallob, John, Ling, Martin R., Patil, Avinash   +4 more
core   +2 more sources