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Familial aplasia of the vermis
Known as:
Cerebelloparenchymal Disorder IV
, CORS1
, syndrome joubert
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A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea…
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National Institutes of Health
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Related topics
Related topics
29 relations
Aggressive behavior
Arima syndrome
Ataxia
Autosomal recessive inheritance
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Broader (7)
Cerebellum
Cystic Kidney Diseases
Eye Abnormalities
Hereditary Diseases
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
S. Pauli
,
J. Altmüller
,
+8 authors
K. Brockmann
Journal of Medical Genetics
2018
Corpus ID: 52029928
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked phenotypic variability and genetic…
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2012
2012
3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide.
A. Ghosh
,
T. Hurd
,
F. Hildebrandt
AJP - Renal Physiology
2012
Corpus ID: 11417028
Ciliopathies are a heterogeneous group of diseases that exhibit broad clinical phenotypes, including renal cysts, retinal…
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2010
2010
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
I. Perrault
,
S. Hanein
,
+14 authors
J. Rozet
Human Mutation
2010
Corpus ID: 26548744
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration. It may present as a congenital stationary…
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Review
2009
Review
2009
Focus on molecules: RPGRIP1.
H. Arts
,
F. Cremers
,
N. Knoers
,
R. Roepman
Experimental Eye Research
2009
Corpus ID: 786972
2008
2008
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies
Jennifer E. Doering
,
K. Kane
,
+8 authors
R. J. Ferland
The Journal of comparative neurology
2008
Corpus ID: 19859965
Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by cerebellum and brainstem malformations. Individuals…
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2004
2004
Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
M. Parisi
,
J. Pinter
,
+5 authors
S. Cramer
Journal of Child Neurology
2004
Corpus ID: 40004515
Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, and a distinctive…
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2002
2002
Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.
I. Blair
,
Roxanne R Gibson
,
C. Bennett
,
P. Chance
American journal of medical genetics
2002
Corpus ID: 26082601
Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome involving agenesis or dysgenesis of the cerebellar…
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1997
1997
Lipomatose encéphalo-crânio-cutanée
S. Louvet
,
C. Léauté-Labrèze
,
L. Labbé
,
J. Chateil
,
A. Taïeb
1997
Corpus ID: 78979841
Introduction. Nous rapportons un cas de lipomatose encephalo-crânio-cutanee associant deux lipomes du scalp a un lipome…
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1986
1986
Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis.
S. Houdou
,
Kousaku Ohno
,
Sachio Takashima
,
Kenzo Takeshita
Pediatric Neurology
1986
Corpus ID: 8552046
Highly Cited
1982
Highly Cited
1982
The central noradrenergic system in the rat: Metabolic mapping with α-adrenergic blocking agents
H. Savaki
,
M. Kadekaro
,
J. Mcculloch
,
L. Sokoloff
Brain Research
1982
Corpus ID: 53156451
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