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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… 
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are… 
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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… 
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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… 
Highly Cited
2005
Highly Cited
2005
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other… 
Review
2005
Review
2005
While abnormalities in head circumference in autism have been observed for decades, it is only recently that scientists have… 
Highly Cited
2003
Highly Cited
2003
Definitive studies on the response of marine mammals to anthropogenic sound are hampered by the short surface time and deep… 
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Highly Cited
2001
Highly Cited
2001
Objective: To quantify developmental abnormalities in cerebral and cerebellar volume in autism. Methods: The authors studied 60… 
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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… 
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… 
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…