|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Noonan Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity.
|
11704759 |
2001 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity.
|
11704759 |
2001 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity.
|
11704759 |
2001 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity.
|
11704759 |
2001 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity.
|
11704759 |
2001 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Here, we report the spectrum and distribution of PTPN11 mutations in a large, well-characterized cohort with NS.
|
11992261 |
2002 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Here, we report the spectrum and distribution of PTPN11 mutations in a large, well-characterized cohort with NS.
|
11992261 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the spectrum and distribution of PTPN11 mutations in a large, well-characterized cohort with NS.
|
11992261 |
2002 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
12058348 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Both mutations affect the PTPN11 phosphotyrosine phosphatase domain, which is involved in <30% of the NS PTPN11 mutations.
|
12058348 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
The results provide further support to the notion that PTPN11 mutations are responsible for the development of Noonan syndrome in a substantial fraction of patients and that relatively infrequent features of Noonan syndrome, such as sensory deafness and bleeding diathesis, can also result from mutations of PTPN11.
|
12161469 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The results provide further support to the notion that PTPN11 mutations are responsible for the development of Noonan syndrome in a substantial fraction of patients and that relatively infrequent features of Noonan syndrome, such as sensory deafness and bleeding diathesis, can also result from mutations of PTPN11.
|
12161469 |
2002 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The results provide further support to the notion that PTPN11 mutations are responsible for the development of Noonan syndrome in a substantial fraction of patients and that relatively infrequent features of Noonan syndrome, such as sensory deafness and bleeding diathesis, can also result from mutations of PTPN11.
|
12161469 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results provide further support to the notion that PTPN11 mutations are responsible for the development of Noonan syndrome in a substantial fraction of patients and that relatively infrequent features of Noonan syndrome, such as sensory deafness and bleeding diathesis, can also result from mutations of PTPN11.
|
12161469 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.
|
12161596 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.
|
12161596 |
2002 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.
|
12161596 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The observation of recurrent mutations supports the hypothesis that a special class of gain-of-function mutations in SHP2 give rise to Noonan syndrome.
|
12325025 |
2002 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The observation of recurrent mutations supports the hypothesis that a special class of gain-of-function mutations in SHP2 give rise to Noonan syndrome.
|
12325025 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
The observation of recurrent mutations supports the hypothesis that a special class of gain-of-function mutations in SHP2 give rise to Noonan syndrome.
|
12325025 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have recently demonstrated that Noonan syndrome can be caused by missense mutations in PTPN11(MIM 176876), a gene that encodes the non-receptor protein tyrosine phosphatase SHP-2.
|
12384786 |
2002 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
|
12529711 |
2003 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
|
12529711 |
2003 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
|
12529711 |
2003 |