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Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source

Myoepithelial carcinoma of palate: Case report

Indian Journal of Pathology and Microbiology, 2014
Myoepithelial carcinoma is an uncommon malignant salivary gland neoplasm with a predilection for parotid gland. However, its occurrence in minor salivary glands is considerably less with only 28 cases being reported in the literature. We report a case of
Balakrishnan Thayumanavan, Nandimandalam Venkata Vani +1 more
doaj +1 more source

Harpur Palate, Volume 9, Issue 1, Summer 2009 [PDF]

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley +1 more source

Median palatal cyst in a 7-year-old child: A case report

Journal of Dr. NTR University of Health Sciences, 2016
The median palatal cyst is a developmental cyst at the midline of the palate, usually presenting as an asymptomatic swelling, located just behind the maxillary central incisors.
Balakrishna Kandarpa +3 more
doaj +1 more source

Oral papillary squamous cell carcinoma (OPSCC): a rare presentation in the palate

Journal of Oral Medicine and Oral Surgery, 2020
Introduction: Oral papillary squamous cell carcinoma (OPSCC) is a rare variant of squamous cell carcinoma with an unusual presentation in the palate. Observation: This case report presents a 68 year old male who reported with pain in the roof of the jaw ...
Karthik K.P., Balamurugan R., Sahana Pushpa T. +2 more
doaj +1 more source

Harper Palate Volume 19 Issue 1, Summer & Fall 2019 [PDF]

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina +6 more
wiley +1 more source

A statistical shape space model of the palate surface trained on 3D MRI scans of the vocal tract [PDF]

arXiv, 2015
We describe a minimally-supervised method for computing a statistical shape space model of the palate surface. The model is created from a corpus of volumetric magnetic resonance imaging (MRI) scans collected from 12 speakers. We extract a 3D mesh of the palate from each speaker, then train the model using principal component analysis (PCA). The palate
arxiv

Roughness Penalty for liquid Scorecards [PDF]

arXiv, 2020
A liquid scorecard has liquid characteristics, for which the characteristic score is a smooth function of the characteristic over a liquid range. The smooth function is based on B-splines, typically cubic. In contrast, the characteristic scores for traditional scorecards are step functions of the characteristics.
arxiv

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