scholarly journals Molar tooth sign (disambiguation)

2020 ◽  
Author(s):  
Craig Hacking
Keyword(s):  
Molar Tooth ◽  
Molar Tooth Sign

Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up

2010 ◽  
Vol 25 (11) ◽  
pp. 1419-1422 ◽  
Author(s):  
Stefano Sartori ◽  
Kathrin Ludwig ◽  
Manuela Fortuna ◽  
Cinzia Marzocchi ◽  
Milena Calderone ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Molar Tooth ◽  
Illustrative Case ◽  
Resonance Imaging ◽  
Molar Tooth Sign ◽  
Dandy Walker Malformation ◽  
Walker Malformation

Molar Tooth Sign in Joubert Syndrome: Clinical, Radiologic, and Pathologic Significance

1999 ◽  
Vol 14 (6) ◽  
pp. 368-376 ◽  
Author(s):  
Bernard L. Maria ◽  
Ronald G. Quisling ◽  
Louis C. Rosainz ◽  
Anthony T. Yachnis ◽  
Jill Gitten ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign

scholarly journals Joubert syndrome: The molar tooth sign of the mid-brain

2013 ◽  
Vol 3 (2) ◽  
pp. 291 ◽  
Author(s):  
C Nag ◽  
M Ghosh ◽  
K Das ◽  
TN Ghosh
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign

scholarly journals Molar tooth sign (abdomen)

2014 ◽  
Author(s):  
Ayla Al Kabbani ◽  
Mohammad Niknejad
Keyword(s):  
Molar Tooth ◽  
Molar Tooth Sign

scholarly journals Joubert Syndrome: A Molar Tooth Sign in Disguise

Cureus ◽  
2020 ◽  
Author(s):  
Likhita Shaik ◽  
Abhimanyu Ravalani ◽  
Shruti Nelekar ◽  
Vamsi Krishna Gorijala ◽  
Kaushal Shah
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign

scholarly journals Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Chunyan Chen ◽  
Jiong Gao ◽  
Qing Lv ◽  
Chen Xu ◽  
Yu Xia ◽  
...  
Keyword(s):  
Structural Changes ◽  
Novel Mutation ◽  
3D Structure ◽  
Brain Magnetic Resonance Imaging ◽  
Chinese Patient ◽  
Molar Tooth ◽  
Compound Heterozygous ◽  
3D Protein Structure ◽  
Molar Tooth Sign ◽  
New Variant

Abstract Background Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gene with mild JS, and the 3D structure of the affected Jouberin protein was also predicted. Case presentation The patient was a 31-year-old male, who presented difficulty at finding toys at the age of 2 years, night blindness from age of 5 years, intention tremor and walking imbalance from 29 years of age. Tubular visual field and retina pigmentation were observed on ophthalmology examinations, as well as molar tooth sign on brain magnetic resonance imaging (MRI). Whole exome sequence revealed two compound heterozygous variants at c.2105C>T (p.T702M) and c.1330A>T (p.I444F) in AHI1 gene. The latter one was a novel mutation. The 3D protein structure was predicted using I-TASSER and PyMOL, showing structural changes from functional β-sheet and α-helix to non-functional D-loop, respectively. Conclusions Mild JS due to novel variants at T702M and I444F in the AHI1 gene was reported. The 3D-structural changes in Jouberin protein might underlie the pathogenesis of JS.

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