Results 71 to 80 of about 5,937 (217)

Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine

Orphanet Journal of Rare Diseases, 2023
Background Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018.
Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao, Xuejun Zhang   +6 more
doaj   +1 more source

Molecular and circadian controls of ameloblasts [PDF]

, 2011
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90102/1/j.1600-0722.2011.00918.x ...
Atanasov, Bei, Brown, D’souza, Fincham, Ghoul-Mazgar, Gibson, Hassan, Hu, Hu, Hu, Jernvall, Jin, Kawano, Lezot, Lu, Moffatt, Moffatt, Ohtsuka, Papagerakis, Papagerakis, Papagerakis, Papagerakis, Price, Ribba, Risnes, Simmer, Simmer, Smith, Smith, Uchida, Ukai-Tadenuma, Zheng   +32 more
core   +1 more source

Epidemiological and Clinical Features of Regional Odontodysplasia in South Korean Pediatric Patients: A Multicenter Case Series Study

International Journal of Paediatric Dentistry, Volume 36, Issue 1, Page 140-152, January 2026.
ABSTRACT Background Regional odontodysplasia (RO) is a rare developmental dental anomaly with unknown prevalence. Current knowledge is largely limited to individual case reports. Aim This study aims to present epidemiological data, clinical features, and radiographic characteristics of pediatric and adolescent patients with RO in South Korea. Design In
So Dam Lee, Je Seon Song, Hyo Seoul Lee, Hyuntae Kim, Yeonmi Yang, Ko Eun Lee   +5 more
wiley   +1 more source

Amelogenesis imperfecta with gingival calcification: a rare presentation

Brazilian Journal of Oral Sciences, 2015
The purpose of this article is to highlight the rare presence of gingival calcification with Amelogenesis Imperfecta. A case is presented of a 12-year-old girl with a defect of enamel in deciduous as well as permanent dentition with moderate amount of ...
Sunitha Carnelio, Nirmala Rao
doaj   +1 more source

The Importance of Serine Phosphorylation of Ameloblastin on Enamel Formation [PDF]

, 2016
FAM20C is a newly identified kinase on the secretory pathway responsible for the phosphorylation of serine residues in the Ser-x-Glu/pSer motifs in several enamel matrix proteins. Fam20C-knockout mice showed severe enamel defects very similar to those in
Brookes, SJ, He, J, Ma, P, Tian, Y, Wang, X, Yan, W   +5 more
core   +1 more source

Stimulated Salivary Flow Rate, Salivary pH, Viscosity, and Salivary Buffer Capacity and Their Relationship With Molar Incisor Hypomineralization in Mexican Schoolchildren

BioMed Research International, Volume 2026, Issue 1, 2026.
Aim The aim of this study is to examine the prevalence of molar incisor hypomineralization (MIH), as well as the relationship between stimulated salivary flow rate, salivary pH, viscosity, and salivary buffer capacity with the presence of MIH in 6‐ to 12‐year‐old Mexican children.
Alvaro García Pérez, Carmen Seseña Pascasio, Jacqueline Adelina Rodríguez Chávez, María de los Ángeles Martínez Antonio, Karla Lizbeth Murillo Santos, Poorani Gurumallesh Prabu   +5 more
wiley   +1 more source

DIRECT RECONSTRUCTION OF PERMANENT DENTITION OF A PATIENT WITH AMELOGENESIS IMPERFECTA

Česká Stomatologie a Praktické Zubní Lékařství, 2020
Introduction and aim: Amelogenesis imperfecta associates a clinically and genetically heterogeneous group of developmental defects affecting the appearance and structure of enamel, which more or less severely affect all dental functions.
T Kovalský, B Vágnerová, I Voborná, R Mounajjed   +3 more
doaj   +1 more source

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations [PDF]

, 2015
Background: Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular
A Linde, A Rejjal, AE Kan, Alan J Mighell, Ana Carolina Acevedo, AX Acosta, C Chaussain-Miller, C Gaucher, Caroline Lourenço de Lima, Chris F Inglehearn, Claire E L Smith, Clare V Logan, CM Giachelli, Colin A Johnson, D Chitayat, D Nalbant, David A Parry, E Katchburian, FK Ababneh, G Hulskamp, G Jaureguiberry, GS Kochar, HM Kingston, HO Ishikawa, J Dong, J Hao, J Raine, James A Poulter, K Al-Mane, KA Al Mane, L Ye, LI Al-Gazali, Lilian M Paula, Luiz Claudio Castro, LW Fisher, M Dure-Molla de la, M Fradin, M Koob, MA DePristo, MA Simpson, MA Simpson, P Vogel, Paulo Marcio Yamaguti, PJ Patel, Priscila Gomes Alves, PS Hart, S Takeyari, SA Shalev, SH Rafaelsen, SK Wang, SK Wang, SM Hebsgaard, T Gunes, T Mahafza, T Sreenath, V Faundes, VS Tagliabracci, X Wang, X Wang, X Wang, X Wang, Y Kinoshita   +61 more
core   +2 more sources

Effect of Tooth Abutment Height on Retention of CAD/CAM Monolithic Zirconia Crowns Cemented With Two Types of Cement: An In Vitro Study

International Journal of Dentistry, Volume 2026, Issue 1, 2026.
Statement of the Problem Retention is still a primary concern in conservatively managing short clinical crowns (SCC) and minimal restorative space. In modern dentistry, there is a growing expectation for the durability and retention of indirect restorations, along with a high esthetic demand, even in unfavorable underlying conditions.
Fatemeh Soleimani, Azam Sadat Mostafavi, Hamid Jalali, Luca Testarelli   +3 more
wiley   +1 more source

Amelogenesis Imperfecta - An account of Three Generations affected in a Family

Journal of Indian Academy of Oral Medicine and Radiology, 2004
Amelogenesis Imperfecta is a hereditary condition affecting dental enamel without any systemic manifestation. This condition can be inherited as either Autosomal or X-linked.
G Sarat, Arindam Sarkar, S Suhas, Keerthilatha M Pail   +3 more
doaj