Results 121 to 130 of about 274,980 (309)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Personality traits and disorders in childhood. Clinical evaluation and diagnosis [PDF]

, 2018
Objective: aim of the paper is to examine the controversial issue of personality traits and disorders in childhood. Method: a literature review of clinical and research data was performed, and a conceptual synthesis was proposed.
Alexandro Fortunato, Anna Maria Speranza
core  

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source

Role of p38 MAPK inhibitor in conditioned fear [PDF]

, 2015
p38 mitogen activated protein kinase (p38) is a kinase that has been implicated in cellular plasticity, stress, and psychiatric disorders and recently in the process of DNA repair.
Bauman, Brittany Nicole, Falls, William, Dr.   +1 more
core   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Anxiety as a Psychological Modulator of Endogenous Pain Inhibition in Chronic Neck Pain: Implications for Precision Rehabilitation

Journal of Pain Research
Carla S Enriquez,1– 3 Alka Bishnoi,1 Musola N Oniyide,4 Katherine L Jennings,1 Roger Luo5,6 1Department of Physical Therapy, Kean University, Union, NJ, USA; 2Department of Physical Medicine and Rehabilitation, Johns Hopkins University, Baltimore, MD ...
Enriquez CS, Bishnoi A, Oniyide MN, Jennings KL, Luo R   +4 more
doaj  

The Theory of Social Control and the Social Psychology of Dissatisfaction: Inhibition, regression and isolation in a cultural context

Grounded Theory Review: An International Journal, 2011
The Theory of Social Control (TSC) is grounded in satisfaction and happiness research. The study investigated the reasons behind relatively low levels of civil and personal satisfaction, subjective social well-being and experienced happiness in the post ...
Orsolya Selymes, PhD Candidate
doaj  

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

Perceived Parental Psychological Control and Social Anxiety Symptoms: The Mediating Role of Behavioral Inhibition [PDF]

Practice in Clinical Psychology
Objective: Due to the widespread prevalence of social anxiety and its considerable consequences, research in this area is imperative. The present study was conducted to examine the perceived parental psychological control (PPPC) and its relationship with
Yasamin Majidi, Mohsen Kachooei
doaj  

Scar Inhibition in Wound Healing: Mechanisms, Design, and Recent Advances

Exploration
Scar inhibition plays a crucial role in wound healing, particularly in the prevention of excessive scar formation during skin repair. While scar formation is a natural part of the healing process, improper scarring can lead to functional impairment ...
Yong Kang, Yiwen Yang, Bin Yao, Zhuhong Zhang, Xiaoyuan Ji   +4 more
doaj   +1 more source