Results 201 to 210 of about 2,477,262 (230)

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

Journal of Human Genetics, 2023
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, M. Nakashima, T. Ogata, H. Saitsu   +6 more
semanticscholar   +1 more source

[Joubert syndrome].

Harefuah, 1996
Joubert syndrome was first described in 1969 and 100 cases have been published so far. It includes: partial or complete agenesis of the vermis, episodic hyperpnea, ataxia, a disorder of ocular movement and mental retardation. It is autosomal recessive and there are descriptions of families with involvement of multiple children, both boys and girls ...
E, Scheuer, T, Lerman-Sagie, A, Fattal, J J, Meir, S, Harel   +4 more
openaire   +1 more source

New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations

Cerebellum, 2023
Niccolò Butti, Viola Oldrati, E. Ferrari, R. Romaniello, C. Gagliardi, R. Borgatti, C. Urgesi   +6 more
semanticscholar   +1 more source

Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.

Advances in Experimental Medicine and Biology, 2023
R. Sangermano, E. Galdikaitė-Brazienė, K. Bujakowska   +2 more
semanticscholar   +1 more source

Joubert syndrome

2023
  +4 more sources

Case 25: Joubert Syndrome

Radiology, 2000
van Beek, E. J., Majoie, C. B.
openaire   +3 more sources

Joubert Syndrome

2009
R.J. Ferland, C.A. Walsh
  +4 more sources

Genetics Review: Joubert Syndrome.

Neonatal network : NN
Audrey M. Tran, Amy J Jnah, Mauricio J De Castro Pretelt   +2 more
semanticscholar   +1 more source

[Joubert's syndrome].

Annales de pediatrie, 1990
We report a new case of pathologically documented Joubert syndrome. A review of 35 published cases showed that this syndrome, first described by Joubert and Eisenring in 1969, is well individualized and exhibits consistent features, including attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor ...
R F, Buissonnière, V, Storni, O, Robain, G, Ponsot   +3 more
openaire   +1 more source

Joubert syndrome and Joubert syndrome-related disorders

2013
Victoria Harrison, Andrea H. Németh
openaire   +1 more source