Results 101 to 110 of about 316,264 (317)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

A Deep Learning-Based Automated Scoring System for Predicting Eyelid Rejuvenation Outcomes After Monopolar Radiofrequency Treatment

Clinical, Cosmetic and Investigational Dermatology
Dong Hye Suh,1 Sang Jun Lee,1 In Yong Kim,2 Byung Chul Jang,3 Hei Sung Kim4 1ArumdaunNara Dermatologic Clinic, Seoul, Korea; 2Switz Dermatologic Clinic, Seoul, Korea; 3School of Electronics and Electrical Engineering, Kyungpook National University, Daegu,
Suh DH, Lee SJ, Kim IY, Jang BC, Kim HS
doaj  

Imaging Methods in Pediatric Dermatology - How to Approach and their Differential Diagnosis

, 2016
A. S. Pecanha
openalex   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Facial Cutaneous Rosai-Dorfman Disease Misdiagnosed as Sporotrichosis: A Case Report and Literature Review

Clinical, Cosmetic and Investigational Dermatology
Xinhuan Wang, Ji Li, Zhihao Li, Yuan Chen, Yubei Li, Xiaodong Li,* Yang Han* Department of Dermatology, Affiliated Central Hospital of Shenyang Medical College, Shenyang, Liaoning, People’s Republic of China*These authors ...
Wang X, Li J, Li Z, Chen Y, Li Y, Li X, Han Y   +6 more
doaj  

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Fibronectin-Based Skin Care Regimens for Skin Recovery After Intense Pulsed Light Therapy: A Split-Face Study

Clinical, Cosmetic and Investigational Dermatology
Haixia Feng,1,* Lan Ge,2,* Ge Shi,3,4,* Shan Yu,5 Xin Wang,6 Xiaowei Li,7 Si Wen,8 Linshan Wu,8 Zhen Yi,8 Xuesong Xian,8 Xiaoyan Fu,8 Baihui Zhang,8 Jinyin Liang,8 Hongling Zhu,8 Li Ye8 1Department of Dermatology, The University ...
Feng H, Ge L, Shi G, Yu S, Wang X, Li X, Wen S, Wu L, Yi Z, Xian X, Fu X, Zhang B, Liang J, Zhu H, Ye L   +14 more
doaj  

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

Animal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud, Iqbal M. Lone, Kareem Midlej, Fuad A. Iraqi   +3 more
wiley   +1 more source

Integrative Multi-Omics and Experimental Analyses Identify TAPBP as a Key Mediator Linking Genetic Susceptibility to Melanocyte Dysfunction in Vitiligo

Clinical, Cosmetic and Investigational Dermatology
Jinlong Shi,1,* Mingzhen Guo,2,* Liying Fu,1 Jiangman He,1 Yuan Hu3 1Department of Dermatology, Zhengzhou People’s Hospital, Zhengzhou, Henan, People’s Republic of China; 2Department of Laboratory, Women and Children’s Hospital Affiliated
Shi J, Guo M, Fu L, He J, Hu Y
doaj  

Bilateral suborbital rash: A dermatologic manifestation of neuropsychiatric disease in a pediatric patient [PDF]

, 2014
Lana X. Tong, Yen Tun Wang, David Beynet
openalex   +1 more source