Results 111 to 120 of about 18,843 (239)

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome [PDF]

, 2004
Russell J. Ferland, Wafaa Eyaid, Randall V. Collura, Laura D Tully, R. Sean Hill, Doha Al-Nouri, Ahmed Al‐Rumayyan, Meral Topçu, Generoso G. Gascon, Adria Bodell, Yin Yao Shugart, Maryellen Ruvolo, Christopher A. Walsh   +12 more
openalex   +1 more source

Joubert Syndrome - A Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2013
Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia ...
Bandichhode S. T., Anitha M. S., Anand Pandav   +2 more
doaj  

Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules

Nature Communications, 2018
The small GTPase ARL13B is mutated in the human ciliopathy Joubert syndrome. Here the authors show that ARL13B and the RAB11 effector FIP5 promote import of tubulin glutamylase into cilia and as such axoneme polyglutamylation, which is demonstrated to be
Kai He, Xiaoyu Ma, Tao Xu, Yan Li, Allen Hodge, Qing Zhang, Julia Torline, Yan Huang, Jian Zhao, Kun Ling, Jinghua Hu   +10 more
doaj   +1 more source

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria [PDF]

, 2004
Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh, Carrie M Louie, Lesley C. Scott, Aithala Gururaj, Lihadh Al‐Gazali, Asma Al-Tawari, Hülya Kayserili, László Sztriha, Joseph G. Gleeson   +10 more
openalex   +1 more source

Patient Perceptions of Drug Risks and Benefits [PDF]

, 1990
This is a report of a pilot study conducted to examine patients\u27 perceptions of drug Risks and benefits. While all of the factors influencing such perceptions are important, the findings about the extent to which views are affected by patient ...
Baras, Carol I., Brown, Michael S., Lasagna, Louis, Wastila, Linda J.   +3 more
core   +1 more source

Joubert syndrome: long‐term follow‐up [PDF]

, 2004
P R Hodgkins, Christopher M. Harris, Fatima Shawkat, Dorothy Thompson, Kling Chong, Christine Timms, Isabelle Russell‐Eggitt, David S. Taylor, A Kriss   +8 more
openalex   +1 more source

Uner Tan Syndrome: History, Clinical Evaluations, Genetics, and the\ud Dynamics of Human Quadrupedalism [PDF]

, 2010
: This review includes for the first time a dynamical systems analysis of human quadrupedalism in Uner Tan syndrome, which is characterized by habitual quadrupedalism, impaired intelligence, and rudimentary speech.
Tan, Prof. Dr. Uner
core  

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome [PDF]

, 2005
Boris Utsch, John A. Sayer, Massimo Attanasio, Rob Rodrigues Pereira, Michael R. Eccles, Hans-Christian Hennies, Edgar A. Otto, Friedhelm Hildebrandt   +7 more
openalex   +1 more source

Genetic complexity in Joubert syndrome and related disorders [PDF]

, 2007
Peter C. Harris
openalex   +1 more source

Genetic Varieties of Jouberts Syndrome

Pediatric Neurology Briefs, 2005
Four families with linkage to two loci for Jouberts syndrome (JS), JBTS1 or JBTS2, and clinical and radiographic correlations for 4 known genetic causes of JS-related disorders (JSRD) are described in a report from University of California-San Diego, La Jolla, CA, and centers in Europe and the Middle East.
openaire   +3 more sources