Results 101 to 110 of about 2,477,262 (230)

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 842-848, May 2026.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source

Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies

European Journal of Clinical Investigation, Volume 56, Issue 5, May 2026.
A zebrafish morpholino knockdown model targeting ahi1 enables efficient phenotypic assessment of ciliopathy‐related defects and functional evaluation of variants of uncertain significance. This assay clarifies the impact of VUSs, supporting zebrafish morphants as a reliable platform for validating ciliopathy‐associated genetic variants.
Carla Aresi, Francesca Tonelli, Concetta Mazzotta, Valentina Serpieri, Cecilia Masiero, Camilla Torriani, Simona Villani, Enza Maria Valente, Antonella Forlino   +8 more
wiley   +1 more source

Burkitt lymphoma in a child with Joubert syndrome

, 2005
Joubert syndrome is a rare disorder, characterized by hypoplasia, or aplasia of the cerebellar vermis, hypotonia, ataxia, and psychomotor retardation. The molecular basis underlying the disease is still unknown.
Brinkman, Josanne, de Nef, Jaak J. E. M., Verschuur, Arnauld C., Barth, Peter G.   +3 more
core   +1 more source

Joubert syndrome: A case report

, 2004
Joubert sendromu, otozomal resesif geçiş gösteren, epizodik hiperpne, anormal göz hareketleri, hipotoni, ataksi, gelişme geriliği, beyin ve beyincik bozuklukları ile kendini gösteren bir hastalıktır.
Mürüvet Elkay, Şakir Altunbaşak, Özlem Hergüner, Faruk İncecik, İmran Özbek   +4 more
core  

Joubert Syndrome with Variable Features: Presentation of Two Cases

, 2013
How to Cite this Article: Barzegar M, Malaki M, Sadegi-Hokmabadi E. Joubert Syndrome with Variable Features: Presentation of Two Cases. Iran J Child Neurol. 2013  Spring;7(2):43-46.
SADEGI-HOKMABADI, Elyar, BARZEGAR, Mohammad, MALAKI, Majid   +2 more
core   +1 more source

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

, 2006
Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in
VALENTE EM, CASTORI M, SIGNORINI S, Silhavy J. L., BOLTSHAUSER E, BRANCATI F, Krishnaswami S. R., Bellacchio E., SILHAVY JL, Lancaster M. A., BOCCONE L, BERTINI E, KRISHNASWAMI SR, INTERNATIONAL JOUBERT SYNDROME RELATED DISORDERS STUDY GROUP, Barrano G., Bertini E., Signorini S., Castori M., LANCASTER MA, SIMONATI, Alessandro, AL GAZALI L, Fazzi E., Boltshauser E., Brancati F., FAZZI, Elisa Maria, DALLAPICCOLA B, Related Disorders Study Group IJ, LOUIE CM, VALENTE, Enza Maria, Dallapiccola B., Louie C. M., Boccone L., Valente E. M., Fazzi E, GLEESON JG, Gleeson J. G., Al Gazali L., BARRANO G, BELLACCHIO E   +38 more
core   +1 more source

A G-protein activation cascade from Arl13B to Arl3 and implications for ciliary targeting of lipidated proteins

eLife, 2015
Small G-proteins of the ADP-ribosylation-factor-like (Arl) subfamily have been shown to be crucial to ciliogenesis and cilia maintenance. Active Arl3 is involved in targeting and releasing lipidated cargo proteins from their carriers PDE6δ and UNC119a/b ...
Katja Gotthardt, Mandy Lokaj, Carolin Koerner, Nathalie Falk, Andreas Gießl, Alfred Wittinghofer   +5 more
doaj   +1 more source

Primary cilia signaling promotes axonal tract development and is disrupted in Joubert Syndrome Related Disorder models

Developmental Cell, 2019
Summary Appropriate axonal growth and connectivity are essential for functional wiring of the brain. Joubert Syndrome Related disorders (JSRD), a group of ciliopathies in which mutations disrupt primary cilia function, are characterized by axonal tract ...
Jiami Guo, Jiami Guo, James M. Otis, Sarah K. Suciu, Christy Catalano, L. Xing, S. Constable, D. Wachten, S. Gupton, Janice Lee, Amelia Lee, Katherine H Blackley, Travis S. Ptacek, Jeremy M. Simon, S. Schurmans, G. Stuber, T. Caspary, E. Anton   +17 more
semanticscholar   +1 more source

Joubert syndrome- A case presentation [Joubert sendromu- Olgu sunumu]

, 2010
Joubert syndrome is an autosomal recessive disorder characterized by partial or complete agenesis of the cerebellar vermis. Clinical features include attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor ...
Ozturk S., Sakman B., Ciliz D.
core  

Joubert syndrome with associated corpus callosum agenesis

, 2002
In 1969, Joubert et al. studied a family where four of six children had a severe clinical condition with episodic alternate hyperpnoea and apnoea, hypotonia, ataxia, psychomotor delay, and abnormal ocular movements.
REGNICOLO L, ZAMPONI N, MESSORI A, POLONARA, GABRIELE, ROSSI B, CARDINALI C.   +5 more
core   +1 more source