Results 61 to 70 of about 19,788 (203)

Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities.
Vathsala Patil , Shruthi Acharya , Chandni Proothi , Pratichi Tripathi , Aditi Tamrakar, Ravindranath Vineetha   +5 more
doaj  

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11 [PDF]

, 2016
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects ...
Ashworth, M, Baksi, AJ, Barton, PJR, Buchan, RJ, Cook, SA, Daubeney, P, Homfray, T, John, S, McKee, S, Murday, V, Prasad, S, Rea, G, Roses-Noguer, F, Stewart, FJ, Taylor, RW, Till, J, Walsh, R, Ware, JS, Wilk, A, Wilkinson, S   +19 more
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Signe de àla dent molaire à: aspect caractéristique en IRM du syndrome de Joubert

The Pan African Medical Journal, 2015
Le syndrome de Joubert est une affection génétique rare, de transmission autosomique récessive, caractérisé par une malformation congénitale du tronc cérébral et une agénésie ou une hypoplasie du vermis cérébelleux entraînant des troubles respiratoires ...
Manel Jellouli, Tahar Gargah
doaj   +1 more source

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source

When you find a tooth in the brain, call joubert for help

APIK Journal of Internal Medicine, 2020
Joubert syndrome is an extremely rare autosomal recessive condition characterized by agenesis of the cerebellar vermis. This has characteristic imaging features which have been described in this article.
Suhas Murali, Karthik Nagraj
doaj   +1 more source

Joubert syndrome: a case report

Bulletin of Faculty of Physical Therapy, 2021
Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and ...
Sarfaraz Alam, Fatema Khatoon, Nazim Khan   +2 more
doaj   +1 more source

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, Volume 99, Issue 5, Page 1277-1286, May 2026.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes [PDF]

, 2017
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to ...
Aral, B, Argente, J, Attie-Bitach, T, Baumann, C, Birnbaum, D, Blacque, OE, Bongers, E, Bruel, A-L, Burglen, L, Chevrier, V, Cormier-Daire, V, David, A, Deleuze, J-F, Desguerres, I, Dieux, A, Doray, B, Doummar, D, Duffourd, Y, Eguether, T, Faivre, L, Fargeot-Espaliat, A, Franco, B, Gaillard, D, Gigot, N, Gilbert-Dussardier, B, Giles, RH, Goldenberg, A, Goldstein, JS, Herranz-Pérez, V, Huynen, MA, Jego, L, Johnson, CA, Leroux, MR, Loget, P, Lopez, E, Morleo, M, Mégarbané, A, Nachury, MV, Panigrahi, I, Pasquier, L, Pazour, GJ, Phadke, SR, Pierquin, G, Reversade, B, Rivière, J-B, Rosnet, O, Saunier, S, St-Onge, J, Steichen-Gersdorf, E, Thauvin-Robinet, C, Thevenon, J, Wallingford, JB   +51 more
core   +3 more sources