Results 61 to 70 of about 138,470 (296)

Characteristics of labial and nasal deformities in patients with unilateral lesser-form cleft lip across different age groups: a cross-sectional study

BMC Oral Health
Background How deformities associated with unilateral lesser-form cleft lip progress with age remains one of the most pressing concerns for patients and their families.
Haoyue Guo, Jun Ya Zhai, HengYuan Ma, Tao Song, Ningbei Yin   +4 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Myoepithelioma of the Palate: A Case Report

Journal of Dentistry Indonesia, 2017
Myoepithelioma, a benign tumor, occurs with a frequency of 1.5% among all salivary gland tumors, and it most commonly affects the parotid gland. Nearly the entire epithelium is composed of neoplastic myoepithelial cells exhibiting spindle, plasmacytic ...
Tetsuro Morikawa, Durga Paudel, Aya Onishi, Daichi Hiraki, Bhoj Raj Adhikari, Puja Neopane, Fumiya Harada, Masafumi Utsunomiya, Koki Yoshida, Jun Sato, Michiko Nishimura, Yoshihiro Abiko   +11 more
doaj   +1 more source

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, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 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

Palate [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +1 more source

Risk of inappropriate fixation position for patients with cleft lip and palate after head and neck extension [PDF]

, 2023
Masanori Tsukamoto, Kazuya Matsuo, Takeshi Yokoyama, Kazuhiro Hano, Michi Eto   +4 more
openalex   +1 more source

Cost Utility Analysis of Fluticasone Exhalation Delivery System Versus Budesonide Nasal Irrigation for Chronic Rhinosinusitis With Nasal Polyps

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is managed after sinus surgery with topical corticosteroids. Given limited distribution of nasal steroid sprays, patients have the option of either steroid nasal irrigation (SNI) or exhalation delivery system with fluticasone (EDS‐FLU).
Daniel Xiao, Martin J. Citardi, William C. Yao, Amber U. Luong   +3 more
wiley   +1 more source