Results 81 to 90 of about 254,297 (340)

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

A comprehensive investigation of memory impairment in attention deficit hyperactivity disorder and oppositional defiant disorder [PDF]

, 2012
We conducted a comprehensive and systematic assessment of memory functioning indrug-naïve boys with attention deficit hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD).
Alloway, American Psychiatric Association, Baddeley, Baddeley, Baddeley, Baddeley, Barkley, Bayliss, Cannon, Castellanos, Coghill, Coghill, Cowan, Dunn, D’Esposito, Faraone, Gathercole, Gibson, Happé, Holmes, Holmes, Jarrold, Jarvis, Karatekin, Kaufman, Kempton, Kim, Kline, Klingberg, Krauel, Luciana, Martinussen, Martinussen, Matthews, Morris, Narhi, Oosterlaan, Oosterlaan, Pennington, Rhodes, Rhodes, Rhodes, Rhodes, Rubia, Scheres, Schneider, Shue, Skowronek, Swanson, Teichner, Toren, Unsworth, Van Goozen, Verte, Willcutt, Willcutt   +55 more
core   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Penatalaksanaan Fisioterapi pada Attention Deficit Hyperactivity Disorder (ADHD) di Pusat Layanan Autis Sragen [PDF]

, 2018
Background: Attention Deficit Hyperactivity Disorder is a developmental disorder in increasing motor activity of children causing excessive motor activity and attention distraction disorder. Objective: to improve the attention and ability to jump with
, Arin Supriyadi S.ST.FT, Alviani, Mareta   +1 more
core  

Genomic Analysis of Trichotillomania

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trichotillomania (TTM) is a psychiatric condition in which people feel an overwhelming urge to pull out their hair, resulting in noticeable hair loss and significant distress. Twin and family studies suggest that TTM is at least partly genetic, but no genome‐wide analyses have been completed.
Matthew W. Halvorsen, Melanie E. Garrett, Michael L. Cuccaro, Allison E. Ashley‐Koch, James J. Crowley   +4 more
wiley   +1 more source

Facilitating maximum benefit for students with attention deficit hyperactivity disorder in distance education [PDF]

, 2010
Traditional distance education environments are not conducive to learners with Attention Deficit Hyperactivity Disorder. The purpose of this literature review is to address how learners with Attention Deficit Hyperactivity Disorder (ADHD) can better ...
Grady, Rodd
core   +1 more source

Familial influences on the full range of variability in attention and activity levels during adolescence: A longitudinal twin study [PDF]

, 2015
To investigate familial influences on the full range of variability in attention and activity across adolescence, we collected maternal ratings of 339 twin pairs at ages 12, 14, and 16, and estimated the transmitted and new familial influences on ...
Anokhin, Andrey P, Grant, Julia D, Heath, Andrew C, Mulligan, Richard C, Peng, Chun-Zi, Reiersen, Angela M   +5 more
core   +2 more sources

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source

Attentional blink in children with attention deficit hyperactivity disorder [PDF]

, 2017
Objective: To explore the temporal mechanism of attention in children with attention deficit hyperactivity disorder (ADHD) and controls using a rapid serial visual presentation (RSVP) task in which two letters (T1 and T2) were presented in close temporal
Amador, Juan Antonio, Aznar Casanova, José Antonio, Bezerra, Izabela, Moreno Sánchez, Manuel, Torro Alves, Nelson   +4 more
core   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source