Noonan Syndrome

Known as: Noonan Ehmke Syndrome, Turner Like Syndrome, Syndrome, Familial Turner 
A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1946-2017
010020019462016

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Highly Cited
2010
Highly Cited
2010
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and… (More)
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Highly Cited
2007
Highly Cited
2007
Noonan syndrome, the most common single-gene cause of congenital heart disease, is characterized by short stature, characteristic… (More)
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Highly Cited
2007
Highly Cited
2007
Noonan syndrome is characterized by short stature, facial dysmorphia and a wide spectrum of congenital heart defects. Mutations… (More)
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Highly Cited
2007
Highly Cited
2007
Noonan and LEOPARD syndromes are developmental disorders with overlapping features, including cardiac abnormalities, short… (More)
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Highly Cited
2007
Highly Cited
2007
Noonan syndrome is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and… (More)
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Highly Cited
2006
Highly Cited
2006
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in… (More)
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Highly Cited
2003
Highly Cited
2003
We report here that individuals with Noonan syndrome and juvenile myelomonocytic leukemia (JMML) have germline mutations in… (More)
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Highly Cited
2002
Highly Cited
2002
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal… (More)
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Highly Cited
2001
Highly Cited
2001
Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, proportionate short… (More)
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Highly Cited
1992
Highly Cited
1992
Clinical details are presented on 151 individuals with Noonan syndrome (83 males and 68 females, mean age 12.6 years… (More)
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