Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
about
Leopard syndromeDiversity and functional consequences of germline and somatic PTPN11 mutations in human disease.The cardiofaciocutaneous syndromeTwin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testingNF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.Association between phosphatase related gene variants and coronary artery disease: case-control study and meta-analysisClinical and Molecular Findings of Tunisian Patients with RASopathies.Role of genomics in cardiovascular medicine.The natural history of Noonan syndrome: a long-term follow-up study.Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis.PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase.Noonan syndrome and related disorders: alterations in growth and puberty.Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome.Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with DiseasesIn vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.Atrioventricular canal defect in patients with RASopathies.Canadian Cardiovascular Society Consensus Conference guidelines on heart failure--2008 update: best practices for the transition of care of heart failure patients, and the recognition, investigation and treatment of cardiomyopathiesAdults with genetic syndromes and cardiovascular abnormalities: clinical history and management.Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium.SHP-2 expression negatively regulates NK cell function.Increased Hemodynamic Load in Early Embryonic Stages Alters Endocardial to Mesenchymal Transition.Genetic biomarkers in hypertrophic cardiomyopathy.RASopathies: Clinical Diagnosis in the First Year of Life.Growth references for Japanese individuals with Noonan syndrome.LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD.The Management of Cardiovascular Abnormalities in Patient With LEOPARD SyndromeDiverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.[Noonan syndrome: from phenotype to growth hormone therapy].Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
P2860
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P2860
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Correlation between PTPN11 gen ...... Noonan and LEOPARD syndromes.
@en
Correlation between PTPN11 gen ...... Noonan and LEOPARD syndromes.
@nl
type
label
Correlation between PTPN11 gen ...... Noonan and LEOPARD syndromes.
@en
Correlation between PTPN11 gen ...... Noonan and LEOPARD syndromes.
@nl
prefLabel
Correlation between PTPN11 gen ...... Noonan and LEOPARD syndromes.
@en
Correlation between PTPN11 gen ...... Noonan and LEOPARD syndromes.
@nl
P2093
P356
P1476
Correlation between PTPN11 gen ...... n Noonan and LEOPARD syndromes
@en
P2093
B Dallapiccola
M C Digilio
V Di Ciommo
P304
P356
10.1136/JMG.40.9.704
P407
P577
2003-09-01T00:00:00Z