Results 41 to 50 of about 257,096 (267)

Attention Deficit Hyperactivity Disorder and Genetics [PDF]

Psikiyatride Güncel Yaklaşımlar, 2018
Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder of which three basic symptoms are lack of attention, over-activity that is improper to the age and impulsivity, all of which appear in childhood.
Fatih Hilmi Cetin, Yasemen Isik
doaj   +1 more source

Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report

Frontiers in Genetics, 2021
Juvenile-onset diabetes may occur in the context of a rare syndromic presentation, suggesting a monogenic etiology rather than a common multifactorial diabetes.
Hamza Dallali, Nadia Kheriji, Wafa Kammoun, Mehdi Mrad, Manel Soltani, Hajer Trabelsi, Walid Hamdi, Afef Bahlous, Melika Ben Ahmed, Faten Mahjoub, Henda Jamoussi, Henda Jamoussi, Sonia Abdelhak, Sonia Abdelhak, Rym Kefi, Rym Kefi   +15 more
doaj   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Patterns of Hypodontia among Third Molars in Contemporary American Adolescents

Dental Anthropology, 2009
Third molars (M3s) are congenitally absent (hypodontic) more frequently than any other tooth type. Causes of this enhanced variability are poorly understood, but the potential range of absence—from none through four M3s per person—provides the ...
Edward F. Harris
doaj   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Epilepsy With Auditory Features: From Etiology to Treatment

Frontiers in Neurology, 2022
Epilepsy with auditory features (EAF) is a focal epilepsy belonging to the focal epileptic syndromes with onset at variable age according to the new ILAE Classification. It is characterized by seizures with auditory aura or receptive aphasia suggesting a
Alessandro Furia, Laura Licchetta, Lorenzo Muccioli, Lorenzo Ferri, Lorenzo Ferri, Barbara Mostacci, Stefania Mazzoni, Veronica Menghi, Raffaella Minardi, Paolo Tinuper, Paolo Tinuper, Francesca Bisulli, Francesca Bisulli   +12 more
doaj   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Activation of Metal Complexes With Ultrasound Waves for Targeted Anticancer Therapy

Angewandte Chemie International Edition, EarlyView.
Ultrasound enables non‐invasive activation of metal‐based therapeutics deep within tumors. Acoustic cavitation can drive sonodynamic reactive oxygen species generation or mechanochemical metal–ligand bond dissociation, enabling controlled release of bioactive payloads.
Félix Grosjean, Nicolás Montesdeoca, Gilles Berger, Johannes Karges   +3 more
wiley   +1 more source

The genetic basis of Parkinson's disease

Неврология, нейропсихиатрия, психосоматика, 2017
Parkinson's disease (PD) is a multifactorial disease that develops in the presence of both genetic and environmental factors. In recent years, there has been sufficient information on the role of genetic predisposition in the development of not only ...
A. A. Tappakhov, T. E. Popova, T. Ya. Nikolaeva, P. I. Gurieva, N. A. Shnaider, M. M. Petrova, M. R. Sapronova   +6 more
doaj   +1 more source

Inheritance

, 2003
The project centres on my own connections, through family, to the free middle-class women who were the wives and daughters of colonial settlers in Tasmania. Whereas both convicts and the upper classes have been documented in conventional histories, these
Anglesey, J (15930845)
core   +1 more source