Results 121 to 130 of about 2,477,262 (230)

Super-resolution microscopy reveals that disruption of ciliary transition zone architecture is a cause of Joubert syndrome

Nature Cell Biology, 2017
Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a domain near the base of the cilium that controls the protein composition of its ...
Xiaoyu Shi, Galo Garcia, Julie C. Van De Weghe, R. McGorty, G. Pazour, D. Doherty, Bo Huang, Jeremy F. Reiter   +7 more
semanticscholar   +1 more source

Early postnatal genetic diagnosis for Joubert Syndrome Type 14 [PDF]

, 2023
BACKGROUND: Joubert syndrome is an autosomal recessive condition characterised by a midbrain-hindbrain malformation giving rise to the characteristic “molar tooth sign” on MRI.
Farrugia, Ryan, Said Conti, Valerie, De Battista, Nadine Anne   +2 more
core  

Lingual Frenectomy in Joubert Syndrome

, 2017
Aim Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones.
Channaveer Pattanshetti, Banashree Sankeshwari, Vivek Gurjar, Minal Gurjar   +3 more
core   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Chorioretinal coloboma and Joubert syndrome: a nonrandom association.

, 1984
In 1969 MARIE JOUBERT described a syndrome characterized by episodic hyperpnea, abnormal eye movments, ataxia, and mental and motor retardation associated with cerebellar vermis agenesis. Additional patients were later reported. In 1980 Lindhout et a l .
Laverda AM, Saia OS, Tenconi R., Danieli E, CLEMENTI, MAURIZIO, Drigo P   +5 more
core  

Photoclinic

مجله دانشگاه علوم پزشکی گرگان, 2016
Case presentation: A 20 month-old hypotonic boy with a history of preterm labor at 32 weeks of gestational age, secondary generalized seizures in infancy, hypothyroidism (T4: 2, TSH: 14); motor and speech developmental delay, mild  ataxia and renal ...
Hosseininejad SM, Safaeian B, Hosseini SA   +2 more
doaj  

Late Breaking Abstracts

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Mitochondrial dysfunction in a patient with Joubert syndrome.

, 2005
Contains fulltext : 48821.pdf (Publisher’s version ) (Open Access)Joubert syndrome is a genetically heterogeneous disorder. The diagnostic criteria include episodic hyperventilation, abnormal eye movements, psychomotor retardation ...
Dinopoulos, A., Heuvel, L.P.W.J. van den, Rodenburg, R.J.T., Smeitink, J.A.M., Morava, E., Kroes, H.Y., Bokhoven, J.H.L.M. van   +6 more
core   +1 more source

Joubert Syndrome: Radiographic Images

Case Reports in Clinical Practice, 2017
No ...
Reza Bidaki, Azam Ghanei, Mohammad Ebrahim Ghanei, Ehsan Zarepur   +3 more
doaj  

Prospective evaluation of kidney disease in Joubert syndrome [PDF]

, 2017
\ua9 2017 by the American Society of Nephrology. Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes.
Daryanani K, Choyke P, Fischer R, Sayer JA, Gahl WA, Fleming LR, Doherty DA, Bryant J, Turkbey B, Vemulapalli M, Malicdan MC, Parisi MA, Vilboux T, Mullikin JC, Glass IA, Gunay-Aygun M   +15 more
core