Results 101 to 110 of about 53,250 (339)

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 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  

Supernumerary Teeth: A Retrospective Cross-Sectional Study from Palestine

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2022
Objective: To investigate the prevalence and characteristics of supernumerary teeth among patients attending the students' dental clinics at the Faculty of Dentistry of the Arab American University, Jenin, Palestine.
Naji Ziad Arandi, Ameed Abu-Ali, Shockry Mustafa   +2 more
doaj  

Neuroleukemiosis Masquerading as Drug Toxicity in an Adolescent With Refractory AML

American Journal of Hematology, EarlyView.
Nia Choi, Deborah Schady, Tim Lotze, Jill Ann Jarrell, Alexandra Rodriguez‐Hernandez, Sandra Aziz, Karen K. Moeller, Joanna S. Yi, Suzanne Woodbury, Andrea N. Marcogliese, Zoann E. Dreyer, Eric S. Schafer   +11 more
wiley   +1 more source

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

Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]

, 2015
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen, Crockett, Cameron D, Gonzalez, Michael A, Grider, Tiffany, Jerath, Nivedita U, Moore, Steven A, Shy, Michael E, Swenson, Andrea, Weihl, Conrad C, Zuchner, Stephan   +9 more
core   +4 more sources

Variability of jaw muscles in Tunisian street dogs and adaptation to skull shape

The Anatomical Record, EarlyView.
Abstract The impact of artificial selection on the masticatory apparatus of dogs has been poorly studied, and comparative data with dogs subjected to more natural constraints are lacking. This study explores the jaw musculature of Tunisian street dogs, which are largely free from the influence of breed‐specific selection.
Colline Brassard, Lobna Wertani, Anthony Herrel, Hassen Jerbi   +3 more
wiley   +1 more source

Prevalence of disorders recorded in Cavalier King Charles Spaniels attending primary-care veterinary practices in England [PDF]

, 2015
Concerns have been raised over breed-related health issues in purebred dogs, but reliable prevalence estimates for disorders within specific breeds are sparse.
Brodbelt, D C, Church, D B, McGreevy, P D, O'Neill, D G, Summers, J F, Thomson, P C   +5 more
core   +2 more sources

In‐vitro puncture experiment using alligator teeth tracks the formation of dental microwear and its association with hardness of the diet

The Anatomical Record, EarlyView.
Abstract With the development of dental microwear texture analysis (DMTA), there has been an increasing application of DMTA for dietary estimation in extant and fossil reptiles, including dinosaurs. While numerous feeding experiments exist for herbivorous mammals, knowledge remains limited for carnivorous reptiles. This study aimed to qualitatively and
K. Usami, M. O. Kubo
wiley   +1 more source