Results 91 to 100 of about 53,250 (339)

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

Identification of novel therapeutic targets in the PI3K/AKT/mTOR pathway in hepatocellular carcinoma using targeted next generation sequencing. [PDF]

, 2014
Understanding genetic aberrations in cancer leads to discovery of new targets for cancer therapies. The genomic landscape of hepatocellular carcinoma (HCC) has not been fully described. Therefore, patients with refractory advanced/metastatic HCC referred
Janku, Filip, Kaseb, Ahmed O, Kurzrock, Razelle, Tsimberidou, Apostolia M, Wolff, Robert A   +4 more
core   +3 more sources

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Frequency and Characteristics of Mesiodens in Indian School Children: A Retrospective Radiographic Study

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2022
Objective: To determine the frequency and characteristics of mesiodens in Indian school children. Material and Methods: 1232 radiographs of patients attending the Department of Oral Medicine and Radiology of the age group of 4-15 years studied for the ...
Santosh R. Patil, Ravi Kumar Gudipaneni, Ibrahim AlZoubi, Kazuyuki Araki, Krishna A. Rao, Mohammad Khursheed Alam   +5 more
doaj  

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

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Mesiodistal and Buccolingual Dimensions in Croatian Orthodontic Hypodontia Patients‘ Teeth

Acta Stomatologica Croatica, 2018
Objective: This study compared mesiodistal (MD) and buccolingual (BL) tooth dimensions of hypodontia patients with a control group with complete dentition.
Antun Vidaković, Sandra Anić-Milošević, Daša Nikolov Borić, Senka Meštrović   +3 more
doaj   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

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  

Association between Tooth Agenesis and Skeletal Malocclusions

eJournal of Oral Maxillofacial Research, 2017
Objectives: The aim of this study was to evaluate the association between tooth agenesis and skeletal malocclusions in Brazilian non-syndromic orthodontic patients. Material and Methods: Pretreatment orthodontic records of 348 patients of both genders
Ana Maria Guerra Costa, Mariana Trevizan, Mírian Aiko Nakane Matsumoto, Raquel Assed Bezerra da Silva, Lea Assed Bezerra da Silva, Karla Carpio Horta, Fabio Lourenço Romano, Paulo Nelson-Filho, Erika Calvano Küchler   +8 more
doaj   +1 more source