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Arnold-Chiari Malformation, Type I

Known as: Arnold Chiari type I malformation, Arnold-Chiari Malformation, Type 1, Arnold Chiari Malformation, Type I 
Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar… Expand
National Institutes of Health

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28 relations
Apert syndromeArm PainAutosomal dominant inheritanceCHROMOSOME 1p32-p31 DELETION SYNDROME
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Broader (1)

Arnold Chiari Malformation

Papers overview

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Highly Cited
2012
Highly Cited
2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are… Expand
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Highly Cited
2006
Highly Cited
2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Joubert syndrome–related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis… Expand
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Highly Cited
2006
Highly Cited
2006
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human… Expand
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Highly Cited
2004
Highly Cited
2004
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.
OBJECTIVES To develop clinical criteria that permit clinical distinction between inherited glomuvenous malformation (GVM), known… Expand
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Highly Cited
1999
Highly Cited
1999
Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients.
OBJECTIVE Chiari malformations are regarded as a pathological continuum of hindbrain maldevelopments characterized by downward… Expand
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Highly Cited
1999
Highly Cited
1999
Independence, Invariance and the Causal Markov Condition
This essay explains what the Causal Markov Condition says and defends the condition from the many criticisms that have been… Expand
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Highly Cited
1996
Highly Cited
1996
A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans.
BACKGROUND Cerebral cavernous malformation is a vascular disease of the brain causing headaches, seizures, and cerebral… Expand
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Highly Cited
1995
Highly Cited
1995
Posterior fossa volume and response to suboccipital decompression in patients with Chiari I malformation.
Smaller posterior fossa (PF) volume has been suggested to be one of the mechanisms responsible for tonsillar herniation through… Expand
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Highly Cited
1991
Highly Cited
1991
Abnormalities of the p53 tumour suppressor gene in human pancreatic cancer.
The tumour suppressor gene p53 has been found to be mutated or inactivated at high frequency in several common human tumours. We… Expand
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Highly Cited
1985
Highly Cited
1985
Position of Cerebellar Tonsils in the Normal Population and in Patients with Chiari Malformation: A Quantitative Approach with MR Imaging
Magnetic resonance imaging was used to define quantitatively the position of the cerebellar tonsils in the normal population and… Expand
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