Results 71 to 80 of about 53,250 (339)

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

Risk of developing palatally displaced canines in patients with early detectable dental anomalies: a retrospective cohort study

Journal of Applied Oral Science
The early recognition of risk factors for the occurrence of palatally displaced canines (PDC) can increase the possibility of impaction prevention. Objective To estimate the risk of PDC occurrence in children with dental anomalies identified early ...
Daniela Gamba GARIB, Melissa LANCIA, Renata Mayumi KATO, Thais Marchini OLIVEIRA, Lucimara Teixeira das NEVES   +4 more
doaj   +1 more source

Tooth rooth abnormalities in twins

Collegium antropologicum, 1995
The occurrence of fused roots, pyramidal tooth form and taurodontism in the first and second permanent molars was studied on orthopantomograms in 96 twin pairs. The aim of the study was to analyze the prevalence of the mentioned abnormalities as related to the twin pair zygosity.
Šlaj, Mladen, Škrinjarić, Ilija, Muretić, Želimir, Lapter-Varga, Marina, Jorgić-Srđak, Ksenija   +4 more
openaire   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Caracterización de pacientes con hipodoncia atendidos en el policlínico “Guillermo Tejas”

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2015
Fundamento: oligodoncia, anodoncia, hipodoncia, son términos que se utilizan indistintamente para referirse a la ausencia de uno o más dientes, es importante considerar que puede traer consigo afectaciones clínicas, ya sean funcionales, psicológicas y ...
Delarays Ossani Pérez Alfonso, Yulianni Pereira Durán, Yaima de los Ángeles Hidalgo Torres, Alina del Monte Nonell   +3 more
doaj  

Ectodermal dysplasia: a narrative review of the clinical and biological aspects relevant to oral health

Frontiers in Pediatrics
Ectodermal dysplasias (ED) are disorders that affect ectodermal-derived tissues during embryonic development. These disorders occur when the ectoderm, the outermost layer of embryonic tissue does not develop normally.
Ana Carolina Morandini, Oluwatomisin Adeogun, Megan Black, Emily Holman, Kaitlyn Collins, Wesley James, Laura Lally, Ashley Fordyce, Rachel Dobbs, Eve McDaniel, Hannah Putnam, Michael Milano   +11 more
doaj   +1 more source

Dental disorders in sows from Swedish commercial herds

Acta Veterinaria Scandinavica, 2020
Knowledge on dental disorders in commercial sows is limited although such conditions may have important animal welfare implications. In a pilot study, the dental and periodontal health of 58 sows (Landrace*Yorkshire-crosses) from 8 Swedish commercial pig
Anna Malmsten, Nils Lundeheim, Anne-Marie Dalin   +2 more
doaj   +1 more source

Effect of Photobiomodulation on Vinblastine-Poisoned Murine HERS Cells [PDF]

, 2010
Objective: The aim of this study was to investigate the effect of near-infrared (NIR) photobiomodulation on the proliferation and glutathione levels in murine Hertwig\u27s epithelial root sheath (HERS) cells after poisoning with vinblastine.
Buchmann, E., Henry, Michele M, Hodgson, Brian D., Pyszka, B., Whelan, Harry T.   +4 more
core   +1 more source

Treatment timing and multidisciplinary approach in Apert syndrome [PDF]

, 2015
Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO, DI GIORGIO, GIANNI, FADDA, Maria Teresa, IERARDO, GAETANO, LADNIAK, BARBARA, RAPONI, INGRID, SILVESTRI, ALESSANDRO   +6 more
core   +2 more sources

Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis [PDF]

, 2021
Sungeun Hwang, Chang-Hyun Park, Regina E. Y. Kim, Hyeon Jin Kim, Yun Seo Choi, Sol-Ah Kim, Jeong Hyun Yoo, Ki Wha Chung, Byung‐Ok Choi, Hyang Woon Lee   +9 more
openalex   +1 more source