Results 21 to 30 of about 938,110 (195)
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
A PROVISIONALLY UNIQUE SYNDROME WITH FEATURES INCLUDING "MOLAR TOOTH" SIGN AND "FEMORAL HYPOPLASIA"
, 2009 A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia": The femoral-facial syndrome (FH-UFS) is a rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and peculiar facies ...
ÇAĞLAYAN, AHMET OKAY +4 more
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, 2003 Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition ...
VALENTE EM +7 more
core +3 more sources
Soft tissues healing at immediate transmucosal implants placed into molar extraction sites associated with buccal self-contained dehiscences. A 12-month controlled clinical trial. [PDF]
, 2008 Aim: To assess soft tissues healing at immediate transmucosal implants placed into molar extraction sites associated with buccal self-contained dehiscences. Study design: 12-month controlled clinical trial.
Iorio Siciliano, Vincenzo
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Joubert Syndrome: A Case Report
Nepal Journal of Neuroscience, 2018 Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Prakash Kafle +5 more
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Chronic vomiting revealing Joubert syndrome: A case report
Radiology Case ReportsJoubert syndrome is a rare autosomal recessive disorder characterized by the presence of the molar tooth sign on imaging. We report the case of a 5-year-old girl diagnosed with Joubert syndrome during the investigation of chronic vomiting.
Leila Haddar +7 more
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A report of Joubert syndrome in an infant, with literature review
Journal of Pediatric Neurosciences, 2011 Joubert syndrome (JS) 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.
Paramdeep Singh +3 more
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Defining properties of neural crest-derived progenitor cells from the apex of human developing tooth [PDF]
, 2008 The connective tissue of the human tooth arises from cells that are derived from the cranial neural crest and, thus, are termed as "ectomesenchymal cells." Here, cells being located in a pad-like tissue adjacent to the apex of the developing tooth, which
Götz, Werner +6 more
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BMC Medical Genomics, 2021 Background Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions.
Chunyan Chen +5 more
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A Model for the Analysis of Caries Occurrence in Primary Molar Tooth Surfaces [PDF]
, 2012 Recently methods of caries quantification in the primary dentition have moved away from summary ‘whole mouth’ measures at the individual level to methods based on generalised linear modelling (GLM) approaches or survival analysis approaches. However, GLM
Stephenson, John +1 more
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