Results 151 to 160 of about 7,377 (241)

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

Clinical 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, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

A Case Study of a Deaf Autistic Adolescent's Affective and Linguistic Expressions. [PDF]

Behav Sci (Basel)
Walker K, Singleton JL, Shield A.
europepmc   +1 more source

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

Clinical 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, Sara M. Sarasua, Lior Rennert, Curtis Rogers, Katy Phelan, Kara Powder, Luigi Boccuto   +6 more
wiley   +1 more source

Clinical Application of the High Superficial Musculoaponeurotic System for Facial Rejuvenation in Chinese Patients. [PDF]

Plast Reconstr Surg Glob Open
Wang J, Xie L, Zhang N, Hu L, Wang J, Zhang S, Liu J, Wang X, Yan X.   +8 more
europepmc   +1 more source

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

Clinical 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, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Mismatching Expressions: Spatiotemporal and Kinematic Differences in Autistic and Non-Autistic Facial Expressions. [PDF]

Autism Res
Keating CT, Sowden-Carvalho S, O Donoghue H, Cook JL.   +3 more
europepmc   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Defining Femininity: Crowdsourced Insights on Gendered Facial Features Across Ethnicities. [PDF]

Aesthet Surg J Open Forum
Patel IS, Glassman GE, Om A, Gould DJ, Cuzzone D, Shauly O.   +5 more
europepmc   +1 more source

CANRIG: Cross‐Attention Neural Face Rigging with Variable Local Control

Computer Graphics Forum, EarlyView.
Abstract Facial animation is one of the most labor‐intensive aspects of animation and VFX, as traditional rigging consumes weeks of expert time and forces animators to spend countless hours manipulating hundreds of controls to achieve varied expressions.
Arad Mohammadi, Sebastian Weiss, Jakob Buhmann, Loic Ciccone, Robert W. Sumner, Derek Bradley, Martin Guay   +6 more
wiley   +1 more source

Italo Bertoglio and “middle-brow art”. Photographs from the Fascist exhibitions (1932-1937)

, 2020
openaire   +1 more source