Results 61 to 70 of about 261,545 (359)

Pleomorphic adenoma rehabilitative treatment in growing up patient: a 20-years follow-up [PDF]

, 2016
OBJECTIVE: Although tumors of minor salivary glands are rare, the pleomorphic adenoma is the most common pathology among the benign neoplasm and can be found with high prevalence in the junction between hard palate and soft palate.
BRAUNER, EDOARDO, Ciolfi, A., DI CARLO, Stefano, GUARINO, GIORGIO, JAMSHIR, SARA, POMPA, Giorgio, VALENTINI, VALENTINO   +6 more
core  

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +2 more sources

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Minor salivary gland mucoepidermoid carcinoma in an adolescent - A curious clinical presentation

Journal of Indian Academy of Oral Medicine and Radiology, 2020
Salivary gland tumors (SGTs) are classified as benign, malignant epithelial, soft tissue, hematolymphoid or secondary tumors. SGTs commonly affect the parotid gland and among the minor salivary glands, the hard palate is the commonest site as it harbors ...
M S Archana, Anu Babu, Geeta Sharma
doaj   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Comparison of Postoperative Complications and Reoperation Rates of Le Fort I Osteotomies Using Demineralized Bone Matrix (DBM) or Autogenous Bone Grafts in Patients with Orofacial Clefts and Craniofacial Malformations

Dentistry Journal
Background: This study aims to evaluate surgical outcomes and compares the prevalence and severity of postoperative complications and reoperations with maxillary osteotomies, focusing on the effectiveness of fixation with demineralized bone matrix (DBM ...
Noémi Sipos, Junnu Leikola, Arja Heliövaara, Eeva Kormi, Juho Suojanen   +4 more
doaj   +1 more source

Fissura palatina reparada: fechamento velofaríngeo antes e durante o som basal Cleft palate repair: velopharyngeal closure before and during the basal tone

Brazilian Journal of Otorhinolaryngology, 2010
Portadores de fissura palatina apresentam inadequado fechamento velofaríngeo (FVF), com consequente hipernasalidade vocal que pode ser diminuída com o som basal.
Giseane Conterno, Carla Aparecida Cielo, Vanessa Santos Elias   +2 more
doaj   +1 more source

Dynamic changes in nasal symmetry after presurgical nasoalveolar molding in infants with complete unilateral cleft lip and palate

African Journal of Paediatric Surgery, 2020
Background: Presurgical nasoalveolar molding (PNAM) technique gave a new perspective to presurgical infant orthopedics. Nasal reconstruction presents a challenge for the plastic surgeons in case of patients with unilateral cleft lip and palate (UCLP ...
Seema Thakur, Anjali Singh, Vijay Kumar Diwana, Alka Rani, Narbir Singh Thakur   +4 more
doaj   +1 more source

Palate-referenced Articulatory Features for Acoustic-to-Articulator Inversion [PDF]

, 2014
The selection of effective articulatory features is an important component of tasks such as acoustic-to-articulator inversion and articulatory synthesis.
Berry, Jeffrey J., Ji, An, Johnson, Michael T   +2 more
core   +1 more source

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate. [PDF]

, 2019
Cleft lip with/without cleft palate (CLP) is a common craniofacial malformation with complex etiologies, reflecting both genetic and environmental factors. Most of the suspected genetic risk for CLP has yet to be identified. To further classify risk loci
Asrani, Kripa, Marini, Nicholas J, Rine, Jasper, Shaw, Gary M, Yang, Wei   +4 more
core   +2 more sources