Results 91 to 100 of about 2,477,262 (230)
Genetic diseases with impaired central respiratory control
The EuroBiotech Journal, 2017 Respiration is controlled by the complex orchestration of central nervous system centers, peripheral chemoreceptors and muscles of respiration and is shaped by complex ontogenetic factors.
Rosso Lourdes M. Del, Ferri Raffaele
doaj +1 more source
Translational Science of Rare Diseases, 2019 Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the “molar tooth sign” on brain MRI.
M. Parisi
semanticscholar +1 more source
Joubert Syndrome Presenting With Young-Age Onset Ischemic Stroke: A Possible Etiologic Association
, 2010 Joubert syndrome is a rare genetic disorder of childhood that is characterized by hypoplasia or agenesis of the cerebellar vermis in addition to brainstem malformations.
Hung Youl Seok +5 more
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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome [PDF]
, 2014 Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert
Stefano Castellana +36 more
core +1 more source
Healthcare recommendations for Joubert syndrome
American Journal of Medical Genetics. Part A, 2019 Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the “Molar Tooth Sign”.
R. Bachmann-Gagescu +23 more
semanticscholar +1 more source
Advanced Science, Volume 13, Issue 28, 18 May 2026.We studied how five common immunosuppressants behave when delivered directly to a transplant site instead of systemically. Using a vascularized implant for islet transplantation, we show that local delivery protects grafts, limits drug spread to the rest of the body, and produces distinct immune signatures.
Jocelyn Nikita Campa‐Carranza +19 more
wiley +1 more source
American Journal of Botany, Volume 113, Issue 5, May 2026.Abstract Premise We examined the African arid corridor (AAC) disjunction pattern of vascular plants between northeastern and southwestern Africa in the context of geological and climatic events since the late Miocene. We developed a phylogenetic and biogeographical framework for the arid‐adapted genus Sesamothamnus (Pedaliaceae), a classic example of ...
John G. Zaborsky +6 more
wiley +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 +21 more
wiley +1 more source
Joubert syndrome associated with total corpus callosum agenesis
, 2006 Joubert syndrome was first described in 1969. It is a rare inherited disorder demonstrating one of the developmental defects of the cerebellar vermis. The main clinical signs of the syndome include developmental delay, hypotonia, ataxia, abnormal ocular ...
Balci K., Unlu E., Utku U., Asil T.
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Age and sex prevalence estimate of Joubert syndrome in Italy [PDF]
, 2020 To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient ...
Battini, Roberta +30 more
core +1 more source