Results 41 to 50 of about 6,129 (165)

are a candidate cause for Joubert syndrome [PDF]

, 2022
Joubert syndrome (JS), a well-established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features.
Jessica Van Ziffle, Eldomery, Mohammad K, Harel, Tamar, Lorraine Potocki, Joseph T. Shieh, Lupski, James R, Shieh, Joseph T, Grochowski, Christopher M, Zeynep Coban‐Akdemir, Hailey Loucks, Loucks, Hailey, Mohammad K. Eldomery, Potocki, Lorraine, Tamar Harel, Walter Patrick Devine, James R. Lupski, Devine, Walter Patrick, Jennifer E. Posey, Doherty, Dan, Van Ziffle, Jessica, Monica Penon‐Portmann, Dana Marafi, Posey, Jennifer E, Coban-Akdemir, Zeynep, Christopher M. Grochowski, Dan Doherty, Penon-Portmann, Monica, Marafi, Dana   +27 more
core   +1 more source

Structural Abnormalities Of The Brain Other Than Molar Tooth Sign In Joubert Syndrome-Related Disorders [PDF]

, 2010
PURPOSE We performed a retrospective study in which we investigated malformations other than brainstem and vermian dysgenesis in Joubert syndrome-related disorders (JSRD).
Haliloglu, Goeknur, Cila, Aysenur, Senocak, Efsun U., Topcu, Meral, Oguz, Kader Karli   +4 more
core   +1 more source

Joubert syndrome with cleft palate

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Joubert syndrome is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the "molar tooth sign" on axial magnetic resonance images. Many congenital malformations such as
Annavarapu Gopalakrishna, Rajesh Jinka, T S Kumar, Basheer Ahmed Khan, Keyur Mevada   +4 more
doaj   +1 more source

Joubert Syndrome with Renal and Cerebral Manifestations: A Case Series of Three Siblings [PDF]

Journal of Clinical and Diagnostic Research, 2023
Joubert syndrome is a rare genetic disorder. Marie Joubert made the first official diagnosis of the syndrome in 1969. It is characterised by aberrant neurodevelopment and a complex midbrain-hindbrain malformation which can be seen on the Magnetic ...
Sushant Kumar, Ashok Bhat
doaj   +1 more source

Joubert syndrome: congenital cerebellar ataxia with the molar tooth. [PDF]

, 2013
Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign ...
M. Romani, Romani, Marta, Micalizzi, Alessia, A. Micalizzi, VALENTE, Enza Maria   +4 more
core   +1 more source

Interruption Regions in the White Line: A Novel Panoramic Finding in the Risk Assessment of Mandibular Canal Exposure by Third Molar [PDF]

Journal of Clinical and Diagnostic Research, 2019
Introduction: Panoramic markers are the indicators which can be demonstrated in panoramic radiograph to aid in dental diagnosis. Several panoramic markers were developed as diagnostic approach to predict Mandibular Canal (MC) exposure by Impacted ...
Azizah Ahmad Fauzi, Abd Jabar Nazimi, Muhd FazlyNIZAM Rashdi, Norshuhailinirwani Fouzi, Nor Asyikin Kamarudin, Roszalina Ramli   +5 more
doaj   +1 more source

Ameloblastic fibrodentinoma with a congenitally missing second premolar tooth: a case report [PDF]

, 2014
Ameloblastic fibrodentinoma (AFD) is a rare benign mixed odontogenic tumor that occurs predominantly in children and young adults. AFD is usually associated with delayed eruption of the tooth and shows painless swelling.
Asahina, Izumi, Minamizato, Tokutarou, Ikeda, Hisazumi, Fujita, Shuichi   +3 more
core   +2 more sources

Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI [PDF]

, 2008
We report prenatal and neonatal neuroimaging findings in a case of oral-facial-digital syndrome type VI (OFDS VI). Prenatal MR imaging at 29 weeks' gestation showed hypoplastic cerebellar vermis and hemispheres, the molar tooth sign, and a hypothalamic ...
Brehmer, U, Scheer, I, Poretti, A, Boltshauser, E, Bernet, V   +4 more
core   +1 more source

Autotransplantation of mature impacted tooth to a fresh molar socket using a 3D replica and guided bone regeneration: two years retrospective case series

BMC Oral Health, 2019
Background The aim of this study was to evaluate the clinical outcome of autotransplantation of mature third molars to fresh molar extraction sockets using 3D replicas. Methods Ten patients underwent teeth autotransplantation with or without GBR.
Ye Wu, Jiaming Chen, Fuping Xie, Huanhuan Liu, Gang Niu, Lin Zhou   +5 more
doaj   +1 more source

Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome

Open Life Sciences, 2023
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient.
Wang Huiping, Nie Wensha, Wang Chunxia, Wang Zuohua, Zheng Yuxia   +4 more
doaj   +1 more source