Results 51 to 60 of about 16,390 (254)

Digit patterning during limb development as a result of the BMP-receptor interaction [PDF]

, 2012
Turing models have been proposed to explain the emergence of digits during limb development. However, so far the molecular components that would give rise to Turing patterns are elusive.
Badugu, Amarendra, Germann, Philipp, Iber, Dagmar, Kraemer, Conradin, Menshykau, Denis   +4 more
core   +2 more sources

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China

BMC Pregnancy and Childbirth
Objective To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016–2020. Methods Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020.
Xu Zhou, Ting Li, Haiyan Kuang, Ying Zhou, Donghua Xie, Jian He, Juan Xiao, Chanchan Chen, Yurong Jiang, Junqun Fang, Hua Wang   +10 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Clinical Features of Syndactyly and Surgical Treatment of Associated Complications

Turkish Journal of Plastic Surgery
Introduction: Syndactyly is a common congenital deformity with an incidence of 1/2000–3000 with a male predominance. Several surgical approaches were described for various clinical presentations.
Alper Geyik, Ozge Eren, Esra Aydın, Mustafa Yilmaz   +3 more
doaj   +1 more source

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation

Frontiers in Pediatrics, 2021
Background: Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature.
Ahmed A. Nugud, Nermeen Mahmoud ELkholy, Awad Alkarim Omar, Abid Qazi, Christos Tzivinikos, Christos Tzivinikos, Nidheesh Chencheri, Sabina Khan, Muhammad Eyad Ba'Ath, Muhammad Eyad Ba'Ath   +9 more
doaj   +1 more source

Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020

Andrology, EarlyView.
Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu, Gao Yuyang, Xu Wenli, Li Wenyan, Liu Zhen, Zhou Jiayuan, Zhu Jun, Dai Li   +7 more
wiley   +1 more source

Treatment of congenital deformities of cleft foot and syndactyly: A case report and review of the literature

Turkish Journal of Plastic Surgery
Cleft foot is a rare congenital anomaly characterized by a central conical defect and deficiency of the foot rays. Syndactyly is the fusion of the skin with or without the bone of adjacent digits, and it may be associated with syndrome-related cleft foot.
Nuh Evin, Yasir Vural, Can Koç, Gökçer Uzer   +3 more
doaj   +1 more source

The sensory penis: A comprehensive immunohistological and ontogenetic exploration of human penile innervation

Andrology, EarlyView.
Abstract Background Penile sexual sensation relies on intricate neural structures that remain incompletely characterized. Immunohistological insights into their development and organization can enhance understanding of penile neuroanatomy and function, while optimizing surgical outcomes.
Alfonso Cepeda‐Emiliani, María Otero‐Alén, Juan Suárez‐Quintanilla, Marina Gándara‐Cortés, Tomás García‐Caballero, Rosalía Gallego, Lucía García‐Caballero   +6 more
wiley   +1 more source