Results 131 to 140 of about 811,999 (329)

Outcomes of Mishra technique in unilateral cleft lip repair [PDF]

, 2022
Alaa Ahmed Elsayed, Ahmed Ahmed, Ahmed Aqoula, Amr Mohamed   +3 more
openalex   +1 more source

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

Blood to Bloodless: Sclerotherapy in the Management of Mucocele

Journal of Indian Academy of Oral Medicine and Radiology
Background: Mucocele can appear at various locations in the body, including the oral cavity. The lower lip is frequently affected. Although surgery is the most commonly used treatment modality, some patients may not be willing to undergo the surgery.
Kime Yama, Cheena Singh, P. Shivasakthi, Ambika Gupta   +3 more
doaj   +1 more source

A biomechanical model of the face including muscles for the prediction of deformations during speech production

, 2007
A 3D biomechanical finite element model of the face is presented. Muscles are represented by piece-wise uniaxial tension cable elements linking the insertion points.
Chabanas, Matthieu, Groleau, Julie, Marecaux, Christophe, Payan, Yohan, Payrard, Natacha, Perrier, Pascal, Rochette, Michel, Segaud, Brice   +7 more
core   +1 more source

Evaluation of genetic variability in the collared peccary Pecari tajacu and the white-lipped peccary Tayassu pecari by microsatellite markers [PDF]

, 2010
Roxane Wirschum Silva, Thales Renato Ochotorena de Freitas, Ives José Sbalqueiro   +2 more
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

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Lip noise generated by flow separation from nozzle surfaces [PDF]

The results of a series of experiments, performed to investigate flow separation and classic lip noise and to aid in understanding aeroacoustic noise generation are presented.
Karchmer, A., Olsen, W.
core   +1 more source

Effects on surface and peripheral zone during single lip deep hole drilling

, 2020
Robert Wegert, Vinzenz Guski, Siegfried Schmauder, Hans‐Christian Möhring   +3 more
openalex   +1 more source

Metformin enhances external urethral sphincter integrity and restores continence via AMPK activation in a rat model of stress urinary incontinence

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of stress urinary incontinence (SUI) is intimately associated with injury to the external urethral sphincter (EUS). In this study, we established an SUI model induced by double vaginal distension and demonstrated that metformin treatment activated the AMPK signaling in the EUS tissue.
Yuting Xu, Xuhong Li, Alvaro Munoz, Li Jiang, Lihua Huang, Yanhua Zhou, Liping Zhu, Youbo Yang   +7 more
wiley   +1 more source