Results 101 to 110 of about 1,301,774 (408)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Union of maxillary second and third molar [PDF]

, 1968
Pathological union is rare between permanent teeth. A case study of a male aged thirty, had pain and a swelling associated with two partly erupted permanent upper molars is described. An incision was made and the mucosa reflected.
Boffa, Charles J.
core  

Deciduous enamel 3D microwear texture analysis as an indicator of childhood diet in medieval Canterbury, England [PDF]

, 2016
This study conducted the first three dimensional microwear texture analysis of human deciduous teeth to reconstruct the physical properties of medieval childhood diet (age 1-8yrs) at St Gregory's Priory and Cemetery (11th to 16th century AD) in ...
Deter, Chris, Johns, Sarah E., Mahoney, Patrick, Miszkiewicz, Justyna J., Nystrom, Pia, Remy, Ashley, Schmidt, Christopher W Schmidt, Slavin, Philip   +7 more
core   +3 more sources

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Radiographic Study of Developmental Alteration in Tooth Number Among Children in IIUM Dental Clinic [PDF]

, 2016
Background: The aim of this research was to determine the prevalence, distribution and association of developmental alteration in tooth number with gender, location, and presence of delayed eruption of tooth among children who attended to Student's ...
Ardini, Y. D. (Yunita), Azaldin, N. H. (Nurul), Ismail, N. (Nabilahuda), Sukmasari, S. (Susi)   +3 more
core   +3 more sources

A novel inhaled anesthesia technique for concurrent direct laryngoscopy in rats

Animal Models and Experimental Medicine, EarlyView.
Our novel nose cone anesthetic technique allows the use of gas anesthesia during concurrent direct laryngoscopy. Inhaled anesthesia not only has a better safety profile for rats, but also increases lab efficiency when compared to injectable anesthesia. Abstract The current anesthetic standard for laryngoscopy in rats utilizes injectable intraperitoneal
Corinne Negvesky, Amin Mirzaaghasi, Eric M. Smith, Ashley E. Kita   +3 more
wiley   +1 more source

Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice

Annals of Neurology, EarlyView.
rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury. However, loss of NF2 leads to a reduction in NRGβ1‐expression and increased ErbB2 levels on Schwann cells (in green), which contributes to schwannoma ...
Julia P. Bischoff, Alexander Schulz, Christian Hagel, Robert Büttner, Michael Reuter, Waylan K. Bessler, D. Wade Clapp, Helen Morrison   +7 more
wiley   +1 more source

Mesiodistal width correlation between primary and successor mandibular teeth: implication for early orthodontic diagnosis

Frontiers in Dental Medicine
BackgroundMost studies on permanent tooth width prediction focus on the predictive value of permanent teeth, however only a few studies examine the predictive value of primary teeth.
Aleyna Cakir, Annika Both, Christian Kirschneck, Nikolaos Daratsianos, Cristiano Miranda de Araújo, Juliane Corá, Erika Calvano Küchler, Svenja Beisel-Memmert   +7 more
doaj   +1 more source

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances [PDF]

, 2013
Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption we performed a population based genome-wide association study ...
Alexei I. Zhurov, Anja Taanila, Anneli Pouta, Arshed M. Toma, Bakrania, Bayés de Luna, Beate St Pourcain, Bei, Bjarke Feenstra, Clive J. Hoggart, Cole, Cornelis, David M. Evans, Demetris Pillas, Di Cello, Eleftherohorinou, Eleftherohorinou, Elks, Ellen A. Nohr, Frank Geller, Freedman, Fujiwara, Geller, George Davey Smith, Ghazaleh Fatemifar, Golding, Goyal, Gu, Gudbjartsson, Hammarsund, Haraguchi, Hikake, Holmans, Horikoshi, Houlston, Hughes, Inga Prokopenko, Jernvall, Jia, John P. Kemp, Jon H. Tobias, Jussila, Kang, Kere, Kirsi Sipila, Lango Allen, Lavinia Paternoster, Levy, Li, Ligon, Mads Melbye, Marjo-Riitta Jarvelin, Meindl, Mikkola, Momoko Horikoshi, Mustonen, Nicholas J. Timpson, Nohr, Nunes, Nyholt, Paternoster, Pillas, Pispa, Pruim, Raija Lähdesmäki, Sabatti, Sakuraba, Simón-Sánchez, Soranzo, Srivastava, Stein, Stephen Richmond, Susan M. Ring, Taal, Taviaux, Tummers, Vainio, Vaz, Victoria J. Wright, Weedon, Willer, Wise, Yabe, Yang, Zhang   +84 more
core   +2 more sources

Early synapsids neurosensory diversity revealed by CT and synchrotron scanning

The Anatomical Record, EarlyView.
Abstract Non‐mammaliaform synapsids (NMS) represent the closest relatives of today's mammals among the early amniotes. Exploring their brain and nervous system is key to understanding how mammals evolved. Here, using CT and Synchrotron scanning, we document for the first time three extreme cases of neurosensory and behavioral adaptations that probe ...
J. Benoit, R. Araujo, E. S. Lund, A. Bolton, T. Lafferty, Z. Macungo, V. Fernandez   +6 more
wiley   +1 more source