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Periventricular Heterotopia, X-Linked

Known as: Periventricular Heterotopias, X-Linked, Nodular Heterotopia, Familial, Heterotopia, Familial Nodular 
National Institutes of Health

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Bicuspid aortic valveBlood Coagulation DisordersMalformations of Cortical Development, Group IIPatent ductus arteriosus

Broader (1)

Periventricular Nodular Heterotopia

Papers overview

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Highly Cited
2013
Highly Cited
2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining… 
Review
2010
Review
2010
Pancreatic heterotopias: clinicopathological analysis of 18 patients.
OBJECTIVE To analyze the clinical and pathological features of heterotopic pancreatic tissue in abdominal digestive organs… 
Highly Cited
2009
Highly Cited
2009
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
Background: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons… 
Review
2009
Review
2009
Neuropathologic features in adults with 22q11.2 deletion syndrome.
The 22q11.2 deletion syndrome (22qDS) is the most common microdeletion syndrome in humans. Its multisystem manifestations include… 
2009
2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations
Bilateral periventricular nodular heterotopia (BPNH) is the most common form of periventricular heterotopia. Mutations in FLNA… 
2004
2004
Cytotoxicity of the E(2)-isoprostane 15-E(2t)-IsoP on oligodendrocyte progenitors.
Highly Cited
2002
Highly Cited
2002
Familial periventricular heterotopia: Missense and distal truncating mutations of the FLN1 gene
ObjectiveTo examine the clinical and MRI associations in bilateral periventricular nodular heterotopia (BPNH) (MIM # 300049) in… 
2001
2001
Periventricular Heterotopia May Result From Radial Glial Fiber Disruption
Periventricular heterotopia (PVH) are collections of neurons and glia heterotopically located adjacent to the ventricles. The… 
Review
1997
Review
1997
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome
Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration, and perhaps… 
Highly Cited
1997
Highly Cited
1997
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Bilateral periventricular nodular heterotopia (BPNH) is a malformation of neuronal migration and is characterized by nodules of… 
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