Results 31 to 40 of about 59,449 (235)

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Frontiers in Genetics, 2022
In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES ...
Housna Zidoune, Housna Zidoune, Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey   +18 more
doaj   +1 more source

Higher spin interactions with scalar matter on constant curvature spacetimes: conserved current and cubic coupling generating functions [PDF]

, 2010
Cubic couplings between a complex scalar field and a tower of symmetric tensor gauge fields of all ranks are investigated on any constant curvature spacetime of dimension d>2.
A Fotopoulos, A Fotopoulos, A Fotopoulos, A Fotopoulos, A Sagnotti, A Sagnotti, AC Petkou, B Wit de, C Fronsdal, D Anselmi, D Francia, D Francia, D Francia, D Francia, DP Sorokin, E Sezgin, E Sezgin, Elisa Meunier, F Bayen, F Bayen, FA Berends, G Barnich, G Barnich, IL Buchbinder, IL Buchbinder, IR Klebanov, J Mickelsson, K Hallowell, KB Alkalaev, M Flato, MA Vasiliev, MA Vasiliev, MA Vasiliev, N Boulanger, N Boulanger, OA Gelfond, P Breitenlohner, PAM Dirac, R Manvelyan, R Manvelyan, RR Metsaev, S Giombi, SE Konstein, SF Prokushkin, SF Prokushkin, T Biswas, T Leonhardt, X Bekaert, X Bekaert, X Bekaert, X Bekaert, Xavier Bekaert, YM Zinoviev   +52 more
core   +4 more sources

Energy and exergy analyses of a hybrid small modular reactor and wind turbine system for trigeneration

Energy Science & Engineering, 2019
In this study, authors present a new hybrid nuclear small modular reactor system assisted with wind energy for net zero emissions trigeneration system. Small modular reactors bring multiple advantages including (a) improved thermal efficiency, (b) better
Farrukh Khalid, Yusuf Bicer
doaj   +1 more source

Controversies on Timing of Sex Assignment and Surgery in Individuals With Disorders of Sex Development: A Perspective

Frontiers in Pediatrics, 2019
Appropriate management of disorders of sex development (DSD) has been a matter of discussion since the first guidelines were published in the 1950s. In the last decade, with the advent of the 2006 consensus, the classical methods, especially regarding ...
Tatiana Prade Hemesath, Tatiana Prade Hemesath, Leila Cristina Pedroso de Paula, Leila Cristina Pedroso de Paula, Clarissa Gutierrez Carvalho, Clarissa Gutierrez Carvalho, Julio Cesar Loguercio Leite, Julio Cesar Loguercio Leite, Guilherme Guaragna-Filho, Guilherme Guaragna-Filho, Eduardo Corrêa Costa, Eduardo Corrêa Costa   +11 more
doaj   +1 more source

Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD)

Anales de Pediatría, 2018
Resumen: Las anomalías de la diferenciación sexual (ADS) engloban un amplio espectro de discordancias entre los criterios cromosómico, gonadal y fenotípico (genital) que definen la diferenciación sexual; actualmente, se aboga por la denominación de ...
Julio Guerrero-Fernández, Cristina Azcona San Julián, Jesús Barreiro Conde, José Antonio Bermúdez de la Vega, Atilano Carcavilla Urquí, Luis Antonio Castaño González, José María Martos Tello, Amaya Rodríguez Estévez, Diego Yeste Fernández, Leopoldo Martínez Martínez, María José Martínez-Urrutia, Cristina Mora Palma, Laura Audí Parera   +12 more
doaj   +1 more source

Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues

Frontiers in Genetics, 2021
Y chromosome represents masculinization. The extra Y chromosome of XYY patients usually leads to over-masculinization phenotypes. The occurrence of several DSD cases with XYY in blood is controversial.
Yongjia Yang, Fang Chen, Zhenqing Luo, Yu Zheng, Jiayong Zheng, Yuyan Fu, Weijian Chen, Haiyan Luo   +7 more
doaj   +1 more source

Sex assignment in conditions affecting sex development [PDF]

, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +1 more source

Qatar’s Wind Energy Potential with Associated Financial and Environmental Benefits for the Natural Gas Industry

Energies, 2019
This study analyzes the possibility to use the wind’s kinetic energy to produce electricity in Northern Qatar for the natural gas processing industry.
Carlos Méndez, Yusuf Bicer
doaj   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches. [PDF]

Clin Endocrinol (Oxf)
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Giri D, Yewale S, Hickingbotham H, Williams C, Shalaby M, Alderson J, Park J.   +6 more
europepmc   +2 more sources

A Qualitative Study of Communication between Young Women with Disorders of Sex Development and Health Professionals [PDF]

, 2015
Background and Objectives. Health communication is a critical aspect of care for both providers and recipients having a direct influence on engagement and outcomes.
Carter, Bernie, Sanders, Caroline
core   +5 more sources