|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
|
27521173 |
2016 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Audiological findings in Noonan syndrome.
|
27619028 |
2016 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Chronic pain in Noonan Syndrome: A previously unreported but common symptom.
|
26297936 |
2015 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
|
26249544 |
2015 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
|
21533187 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.
|
21500339 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
|
19467855 |
2009 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Noonan syndrome.
|
17222357 |
2007 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
|
17056636 |
2007 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
LEOPARD syndrome: clinical diagnosis in the first year of life.
|
16523510 |
2006 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
12960218 |
2003 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).
|
9222968 |
1997 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3.
|
8530013 |
1995 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A clinical study of Noonan syndrome.
|
1543375 |
1992 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Noonan syndrome: the changing phenotype.
|
4025385 |
1985 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Multiple lentigines syndrome. Case report and review of the literature.
|
1258892 |
1976 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
|
4386970 |
1968 |