Results 91 to 100 of about 25,035 (239)

Habit reversal therapy in obsessive compulsive related disorders : A systematic review of the evidence and consort evaluation of randomized controlled trials [PDF]

open access: yes, 2019
Background: Habit Reversal Therapy (HRT) has long been used in the treatment of Tourette Syndrome and Tic Disorders. It has more recently been used to treat Trichotillomania and skin picking behaviors, both considered as Obsessive Compulsive Related ...
Abramowitz   +67 more
core   +4 more sources

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

open access: yesClinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson   +22 more
wiley   +1 more source

Predictors of Comorbid Eating Disorders and Association with Other Obsessive-Compulsive Spectrum Disorders in Trichotillomania [PDF]

open access: yes, 2017
Trichotillomania (TTM) and eating disorders (ED) share many phenomenological similarities, including ritualized compulsive behaviors. Given this, and that comorbid EDs may represent additional functional burden to hair pullers, we sought to identify ...
Curley, Erin E.   +9 more
core   +1 more source

Self-perception and self-esteem of patients seeking cosmetic surgery [PDF]

open access: yes, 2005
Cosmetic surgery represents a particular application of plastic surgery, in which the operative competence of the discipline is focused not on the correction of pathological disorders, but on the correction of some morphologic traits not accepted by the ...
D'ANDREA F., FERRARO GA, ROSSANO F
core   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau   +7 more
wiley   +1 more source

Craniofacial Dysmorphology Associated With Phelan–McDermid Syndrome Using Three‐Dimensional Morphometrics

open access: yesClinical Genetics, EarlyView.
Using 3D morphometrics quantifies genetic contribution to head and face development. ABSTRACT Phelan–McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized.
Katherine Weisensee   +6 more
wiley   +1 more source

Body dysmorphia in a 23 year old patient with obsessive compulsive disorder: a case report

open access: yesEuropean Psychiatry
Introduction Body dysmorphic disorder (BDD) was considered an anxiety disorder in the DSM-IV, but in the DSM-V was added to the obsessive-compulsive and related disorders category. BDD is a psychiatric disorder characterised by an excessive, persistent,
P. Setién Preciados   +2 more
doaj   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

open access: yesClinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen   +5 more
wiley   +1 more source

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]

open access: yes, 2017
ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael   +21 more
core  

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