Results 261 to 270 of about 93,801 (340)

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

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

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
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

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

Clinical Genetics, Volume 109, Issue 6, Page 1038-1048, June 2026.
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

An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery. [PDF]

Clin Cosmet Investig Dermatol
Ghaznavi A, Borooghani H, Pahlevan Sabagh A, Aghajanlou T.   +3 more
europepmc   +1 more source

Red era: Dyeing yak hair fibres red with in situ generated silver nanoparticles using silver nitrate and a flavonoid‐containing plant extract

Coloration Technology, Volume 142, Issue 3, Page 439-455, June 2026.
Abstract Plants and their extracts have been used for dyeing fabrics, skin and hair for thousands of years and have been experiencing a revival in the last years due to increasing health risks arising from oxidative hair dye precursors. We developed a novel two‐step method to dye keratin fibres based on in situ formed silver nanoparticles including a ...
Julia K. Hachmann, Jule M. Sauler, Charlotte Ruhmlieb, Volkmar Vill, Fabian Straske   +4 more
wiley   +1 more source

Cultural and Gender Influences on Facial Attractiveness: A Comparative Study of Japanese and American Raters Using Geometric Morphometrics. [PDF]

Psych J
Sano T, Kawabata H.
europepmc   +1 more source

Oral Angiolymphoid Hyperplasia With Eosinophilia Exhibiting Cutaneous‐Type Histopathologic Features: Clinical Regression Following Hormonal Withdrawal and a 50‐Year Review

Journal of Cutaneous Pathology, Volume 53, Issue 6, Page 491-501, June 2026.
Case report of a 30‐year‐old female. Asymptomatic, red‐purple hyperplastic lesion extending from teeth 21 to 25, with bleeding upon manipulation. Differential diagnosis included: inflammatory gingival hyperplasia, plasma cell gingivitis, leukemia, and Wegener's granulomatosis.
Pedro Vinícius Santos de Jesus, Louise Cristina Santos, Gilberth Tadeu Dos Santos Aciole, John Lennon Silva Cunha, Nicole Lonni, Matheus Antoni da Silva Costa, Elena Riet Correa Rivero, Rogério Gondak, Ricardo Luíz Cavalcanti de Albuquerque‐Júnior   +8 more
wiley   +1 more source

Scarring Alopecia of Eyebrows with Comedonal Lesions in a Young Boy. [PDF]

Indian Dermatol Online J
Sharma A, Vinay K.
europepmc   +1 more source

Genome-wide association studies identify multiple genetic loci influencing eyebrow color variation in Europeans

, 2019
Fuduan Peng, Gu Zhu, Pirro G. Hysi, Ryan J. Eller, Yan Chen, Yi Li, Merel A. Hamer, Changqing Zeng, Racquel L. Hopkins, Case L. Jacobus, Paige L. Wallace, André G. Uitterlinden, M. Arfan Ikram, David L. Duffy, Tamar Nijsten, Sarah E. Medland, Timothy D. Spector, Susan Walsh, Nicholas G. Martin, Fan Liu, Manfred Kayser   +20 more
openalex   +1 more source

Sarcoidal Reaction of the Eyebrows after Micropigmentation: A Review of Therapeutic Approaches

Marinna Sampaio Campos, Loanda Oliveira Fukuma, Juliana de Carvalho Delgado, Karla Calaça Kabbach Prigenzi, Sandra Lopes Mattos e Dinato, Hudson Dutra Rezende   +5 more
openalex   +1 more source