Macrocephaly

Known as: Megacephalies, Macrocrania, Megacephaly 
A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is… (More)
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
Purpose: To define the prevalence of PTEN mutations in a clinical cohort of pediatric subjects with autism spectrum disorders… (More)
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Highly Cited
2008
Highly Cited
2008
Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have… (More)
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Highly Cited
2007
Highly Cited
2007
Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley… (More)
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Highly Cited
2006
Highly Cited
2006
CNS deletion of Pten in the mouse has revealed its roles in controlling cell size and number, thus providing compelling etiology… (More)
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Highly Cited
2005
Highly Cited
2005
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other… (More)
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Highly Cited
2002
Highly Cited
2002
We investigated the role of maternal exposure to human influenza virus (H1N1) in C57BL/6 mice on Day 9 of pregnancy on pyramidal… (More)
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Highly Cited
2001
Highly Cited
2001
Definitive studies on the response of marine mammals to anthropogenic sound are hampered by the short surface time and deep… (More)
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Highly Cited
1999
Highly Cited
1999
Data from a series of 126 autistic children ages 2-16 years and referred to an Autism Diagnosis Unit in South-West France were… (More)
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Highly Cited
1997
Highly Cited
1997
OBJECTIVE To explore the frequency and onset of macrocephaly in autism and its relationship to clinical features. METHOD Head… (More)
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Highly Cited
1997
Highly Cited
1997
Cowden disease (CD) is an autosomal dominant cancer predisposition syndrome associated with an elevated risk for tumours of the… (More)
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