Results 51 to 60 of about 58,186 (351)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

A case report of complete tooth transposition associated with a primary canine

The Journal of Qazvin University of Medical Sciences, 2015
Tooth transposition is a developmental anomaly and the canine is the most common involved tooth in the transposition. This anomaly occurs in the maxilla more than the mandible and has not been reported simultaneously in both jaws and in primary teeth ...
E. Moravej Salehi, H. Moaven
doaj  

Case Report: Applicability of sedation with nitrous oxide in the management of molar incisor hypomineralization in pediatric patients

Frontiers in Dental Medicine, 2022
Patients with molar-incisor hypomineralization (MIH) may manifest tooth hypersensitivity and difficulties in undergoing dental treatment, including fear, anxiety, and behavior problems in the dental office. Then, the objective of this study was to report
Kelly Fernanda Molena, Ricardo Barbosa Lima, Taíssa Cássia de Souza Furtado, Alexandra Mussolino de Queiroz, Fabrício Kitazono de Carvalho, Maya Fernanda Manfrin Arnez, Francisco Wanderley Garcia Paula-Silva   +6 more
doaj   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Maxillary osteosarcoma in a beef suckler cow [PDF]

, 2012
A ten-year-old beef suckler cow was referred to the Scottish Centre for Production Animal Health and Food Safety of the University of Glasgow, because of facial swelling in the region of the right maxilla.
Barrett, D.C., Prins, D.G.J., Wittek, T.
core   +3 more sources

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Hypodontia and Hyperdontia as Examples of Developmental Disorders in Tooth Number: Literature Review and Clinical Case Reports

Quality in Sport
Introduction and purpose: Hypodontia and hyperdontia are two common developmental dental anomalies characterized by an abnormal number of teeth and they present a significant challenge in dentistry, affecting both the functionality and aesthetics of the
Martyna Wojda, Aleksandra Wielgosz
doaj   +1 more source

Developmental enamel and anatomical tooth defects in dogs – Experience from veterinary dental referral practice and review of the literature

Frontiers in Veterinary Science, 2016
Developmental tooth abnormalities in dogs are uncommon in general veterinary practice but understanding thereof is important for optimal management in order to maintain gnathic function through conservation of the dentition.
Sonja Catharina Boy, David Alan Crossley, Gerhard eSteenkamp   +2 more
doaj   +1 more source

Mesiodens in a permanent and mixed dentition

Эндодонтия Today, 2020
Supernumerary teeth are considered one of the most significant tooth abnormalities in the initial and early stages of mixed and primary dentition. They are of great importance to dentists and parents because of the problems that they can cause. Mesiodens
A. I. Markova, I. M. Todua, R. A. Bokova, Sh. M. Solimanov, Sh. A. Nazhmudino, A. B. Adzhieva   +5 more
doaj   +1 more source

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E [PDF]

, 2017
OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with ...
Bai, Yunhong, Connolly, Anne M, Grider, Tiffany, Kamholz, John, Lupski, James R, Shy, Michael E, Wang, David S, Wu, Xingyao, Zaidman, Craig   +8 more
core   +2 more sources