Results 101 to 110 of about 19,203 (283)

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

Clinical Genetics, EarlyView.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert McFarland, Robert W. Taylor   +20 more
wiley   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, EarlyView.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium [PDF]

, 2012
Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here,
A Fernandez-Medarde, Abhishek Nag, AH Kihara, AI Jobling, Alan F. Wright, Albert Hofman, Albert V. Smith, Alex W. Hewitt, Alireza Mirshahi, AM Solouki, Andres Metspalu, André G. Uitterlinden, Angela Döring, Anke Tönjes, B Lu, Barbara E. Klein, Beate St. Pourcain, Ben A. Oostra, BJ Curtin, Brian W. Fleck, C Jones, Caroline C. W. Klaver, Caroline Hayward, Cathy Williams, Chiea-Chuen Khor, Christian Wolfram, Christopher J. Hammond, Claire L. Simpson, Cornelia M. van Duijn, David A. Mackey, Dominiek D. G. Despriet, Dwight Stambolian, E-Shyong Tai, Eranga Vithana, Federico Murgia, Fernando Rivadeneira, Fumihiko Matsuda, George McMahon, Guðný Eiríksdóttir, H Hayashi, H Nakanishi, Harry Campbell, HM Wu, I Morgan, Igor Rudan, Isao Nakata, James F. Wilson, Jeremy A. Guggenheim, JH Kempen, Jie Jin Wang, JM Ip, Joan E. Bailey-Wilson, Johannes R. Vingerling, Jugnoo S. Rahi, K Striedinger, KA Rose, Karl J. Lackner, Kenji Yamashiro, Konrad Oexle, Kyoko Ohno-Matsui, Larry D. Atwood, Laura Portas, Lennart C. Karssen, Leonieke M. E. van Koolwijk, Leslie J. Raffel, Liang-Kee Goh, LL Lin, M Dirani, M Guldenagel, M He, M. Kamran Ikram, Mary Frances Cotch, Mika Kähönen, MR Deans, NA McBrien, Nagahisa Yoshimura, Najaf Amin, Norbert Pfeiffer, Olavi Pärssinen, Ozren Polasek, Paul Mitchell, Paul N. Baird, Paulus T. V. M. de Jong, PG Hysi, Phillippa M. Cumberland, Pirro G. Hysi, PN Baird, Priya Duggal, Q Wang, Qiao Fan, R Paffenholz, Raphaële Castagné, Reedik Mägi, René Höhn, RH Duparc, Robert Wojciechowski, Ryo Yamada, S Vitale, Sarayut Janmahasatian, Seang-Mei Saw, Shomi Bhattacharya, SM Saw, SM Saw, SM Saw, Sudha K. Iyengar, Taina Rantanen, Tanja Zeller, Terho Lehtimäki, Terri L. Young, Thomas Bettecken, Thomas Meitinger, Tien-Yin Wong, Timothy D. Spector, Tin Aung, TL Young, TL Young, Tõnu Esko, Veronique Vitart, Vilmundur Gudnason, Virginie J. M. Verhoeven, Wanting Tay, Xiaohui Li, Xin Zhou, Xueling Sim, Y Gao, Y Shi, Y Tano, Yi Lu, Yi-Ju Li, Yik-Ying Teo, YJ Li, Z Li   +131 more
core   +5 more sources

Visual and Ocular Characteristics of Anisometropic Children

Journal of Ophthalmic & Vision Research
Purpose: To compare the demographic and ocular characteristics of patients with low and high levels of anisometropia compared with non-anisometropic individuals.
Zhale Rajavi, Narges Behradfar, Marzieh Sharahi Dizabadi, Bahareh Kheiri, Kourosh Sheibani, Hamideh Sabbaghi   +5 more
doaj   +1 more source

Prevalence and risk factors of refractive error: a cross-sectional Study in Han and Yi adults in Yunnan, China

BMC Ophthalmology, 2019
Background Few studies have investigated the prevalence of refractive error (RE) in older adults in China, and most have focused on East China. Our study determined the prevalence and risk factors of RE in Han and Yi adults aged 40–80 years in rural and ...
Meng Wang, Jiantao Cui, Guangliang Shan, Xia Peng, Li Pan, Zhimei Yan, Jie Zhang, Yong Zhong, Jin Ma   +8 more
doaj   +1 more source

The War of the Pacific and Chilean public revenues: Reallocation of the tax burden and institutional change

The Economic History Review, EarlyView.
Abstract A substantial body of literature has considered warfare a fundamental driver of fiscal capacity. We argue that the nature of the tax base available to governments can either foster or constrain the ability and incentives of central elites to impose their legitimacy once the war is over.
Oriol Sabaté, José Peres‐Cajías
wiley   +1 more source

The prevalence of refractive errors in 6- to 15-year-old schoolchildren in Dezful, Iran

Journal of Current Ophthalmology, 2015
Purpose: To determine the prevalence of refractive errors, among 6- to 15-year-old schoolchildren in the city of Dezful in western Iran. Methods: In this cross-sectional study, 1375 Dezful schoolchildren were selected through multistage cluster sampling.
Reza Norouzirad, Hassan Hashemi, Abbasali Yekta, Fereidon Nirouzad, Hadi Ostadimoghaddam, Negareh Yazdani, Nooshin Dadbin, Ali Javaherforoushzadeh, Mehdi Khabazkhoob   +8 more
doaj   +1 more source

‘Green Skills’ : What Do Companies Do With It? The Case of Building Automation

International Journal of Training and Development, EarlyView.
ABSTRACT In recent times, ‘Green Skills’ has become a buzzword in international, national and local policies. Green Skills are considered to be an important precondition to achieving the United Nations' Sustainable Development Goals. However, until now, there has been a research gap in how companies, characterised by the particularities of their ...
Martina Fuchs, Farina Koller, Hanna Link, Claudia Ziller   +3 more
wiley   +1 more source

What horses and humans see: a comparative review [PDF]

, 2009
Adaptations of the mammalian eye have tailored each to its own particular ecological niche. On the one hand, it would appear that the horse is best served by a system that can keep "half an eye" on everything, while the human benefits from focussing on ...
Arkins, S, Hall, CA, Murphy, J
core   +2 more sources

The prevalence of refractive errors in 5–15 year-old population of two underserved rural areas of Iran

Journal of Current Ophthalmology, 2018
Purpose: To determine the prevalence of hyperopia and myopia and their associations with age and gender in 5- to 15-year-old children in underserved rural areas in Iran. Methods: In this cross-sectional study, sampling was done using a multistage cluster
Hassan Hashemi, Abbasali Yekta, Payam Nabovati, Fahimeh Khoshhal, Abbas Riazi, Mehdi Khabazkhoob   +5 more
doaj