Results 61 to 70 of about 17,100 (213)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Neuropsychological tests. References are reported in Data

, 2013
Neuropsychological tests.
Tobias Kober (456977), Bernard Hirschel (146693), Reto Meuli (30299), Cristina Granziera (21813), Alexandra Calmy (36005), Gunther Helms (456979), Melanie Metral (456978), Matthias Cavassini (146654), Renaud A. Du Pasquier (295568), Gunnar Krueger (373589), Alessandro Daducci (293444), Djalel Meskaldji (456976), François Lazeyras (456980), Alexis Roche (456975), Samanta Simioni (295563)   +14 more
core   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Predicting neurological impairment with the Dean-Woodcock Sensory Motor Battery

, 2004
An integral part of neuropsychological assessment is the measurement of sensory-motor performance. Many studies have been conducted on the effectiveness of neuropsychological batteries to assess neurological impairment, however examination of only the ...
Volpe, Alessandra G.
core  

Neuropsychological Tests: TMT at Study Entry.

, 2013
Neuropsychological Tests: TMT at Study Entry.
Jack W. Tsao (276092), Martin D. Slade (120401), Barry Hoffer (276093), Michael E. Hoffer (276090), Carey Balaban (276091)   +4 more
core   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +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

NSI efficacy

, 1999
Neuropsychologists are increasingly asked to determine whether a patient may be malingering symptoms of a mild closed head injury. This issue is particularly salient within the context of civil litigation and the potential of significant financial awards.
Gelder, Barbara C.
core  

Content of the neuropsychological battery of tests.

, 2016
Content of the neuropsychological battery of tests.
Heiko Jessen (51152), Victor Marin-Webb (3592202), Ute Kopp (3592205), Katrin Hahn (3224787), Arne B. Jessen (3592208)   +4 more
core   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source