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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… 
National Institutes of Health

Related topics

Related topics

49 relations
Acquired cubitus valgusAmegakaryocytic thrombocytopeniaAortic coarctationAtrial Septal Defects

Broader (1)

Gonadal Dysgenesis

Narrower (8)

Kousseff Nichols syndromeNOONAN SYNDROME 3Neurofibromatosis-Noonan syndromeNoonan Syndrome 2

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2001
Highly Cited
2001
The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.
Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS… 
Highly Cited
1997
Highly Cited
1997
A PET study of turner's syndrome: Effects of sex steroids and the X chromosome on brain
Highly Cited
1993
Highly Cited
1993
INTELLECTUAL FUNCTIONING OF CHILDREN WITH TURNER SYNDROME: A COMPARISON OF BEHAVIOURAL PHENOTYPES
This study reports the results of 19 girls with Turner syndrome (TS), aged between nine and 12 years, in relation to intellectual… 
Highly Cited
1990
Highly Cited
1990
Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female
WHETHER a human embryo develops as a male or a female is determined by the presence of the Y chromosome1,2. The sex-determining… 
Highly Cited
1990
Highly Cited
1990
Spontaneous growth in Turner's syndrome.
The natural course of growth in Turner's syndrome is demonstrated on the basis of growth data from untreated patients. The mean… 
Highly Cited
1985
Highly Cited
1985
The Neuropsychological Phenotype in Turner Syndrome
Highly Cited
1976
Highly Cited
1976
Somatomedin A in human serum, determined by radioreceptor assay.
Somatomedin A was determined by radioreceptor assay in serum from patients with various disorders. The mean values of somatomedin… 
Highly Cited
1974
Highly Cited
1974
Letter: X long-arm deletion with features of Turner's syndrome.
Highly Cited
1963
Highly Cited
1963
THE PATHOLOGY AND CYTOGENETICS OF GONADAL AGENESIS.
Highly Cited
1961
Highly Cited
1961
Turner's syndrome and allied conditions. Clinical features and chromosome abnormalities.
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