Results 181 to 190 of about 53,250 (339)

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source

Abnormal Tooth Wear Caused by Tool Use Found in the Cemetery of Szalaszend, Hungary, Dated to the Period of the Hungarian Conquest (10th c.)

, 2021
Orsolya László, Csilla Líbor
openalex   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Pérola de esmalte: epidemiologia, morfopatogênese e relevância na clínica odontológica

Revista de Odontologia da UNESP
INTRODUÇÃO: Distúrbios da odontogênese geram anomalias dentárias com relevância diagnóstica e terapêutica. OBJETIVO: O presente artigo teve como objetivos fazer uma revisão sistemática sobre a pérola de esmalte e discutir seu processo formativo, bem como
Igor Iuco Castro-Silva, Fábio Lopes de Azevedo, Daniel Otero   +2 more
doaj  

Stuck Below: Failure of Tooth Eruption and Hereditary Enamel Defects. [PDF]

Int Dent J
Kantaputra PN, Sirikrai T, Green J.
europepmc   +1 more source

Peri‐Implant Conditions During Supportive Periodontal Care: A Prospective Study

Clinical Oral Implants Research, EarlyView.
ABSTRACT Aim To assess peri‐implant conditions in a cohort of patients previously treated for periodontitis undergoing supportive periodontal care (SPC). Materials and Methods A prospective observational study was carried out on previously treated periodontitis patients followed for 5 years in SPC.
Margherita Sforza, Pasquale Santamaria, Aliye Akcalı, Luigi Nibali   +3 more
wiley   +1 more source

Genetic Deletion of Cadm4 Results in Myelin Abnormalities Resembling Charcot-Marie-Tooth Neuropathy [PDF]

, 2013
Neev Golan, Elena Kartvelishvily, Ivo Spiegel, D. Salomon, Helena Sabanay, Katya Rechav, Anya Vainshtein, Shahar Frechter, Galia Maik-Rachline, Yael Eshed‐Eisenbach, Takashi Momoi, Elior Peles   +11 more
openalex   +1 more source

DENTEX: An Abnormal Tooth Detection with Dental Enumeration and Diagnosis Benchmark for Panoramic X-rays

, 2023
İbrahim Ethem Hamamcı, Sezgin Er, Enis Simsar, Atıf Emre Yüksel, Sadullah Gültekin, Şerife Damla Özdemir, Kaiyuan Yang, Hongwei Li, Sarthak Pati, Bernd Stadlinger, Albert Mehl, Mustafa Gündoğar, Bjoern Menze   +12 more
openalex   +2 more sources

Decade-long delayed diagnosis of hypophosphatasia until next generation tooth loss: case reports on dental rehabilitation, diagnostic challenges and clinical implications. [PDF]

Front Oral Health
Cao Y, Zhang F, Huang X, Jiang A, Jiang S, Wu M.   +5 more
europepmc   +1 more source

Development of Plastic Gear for Power Transmission : Abnormal Wear on the Tooth Root and Tooth Fracture near Pitch Point

, 1986
Kenichi Terashima, Naohisa Tsukamoto, Noriteru Nishida, Jiasun SHI   +3 more
openalex   +2 more sources