PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
about
Leopard syndromeGermline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeDiversity and functional consequences of germline and somatic PTPN11 mutations in human disease.MAP'ing CNS development and cognition: an ERKsome processThe cardiofaciocutaneous syndromeJuvenile myelomonocytic leukemia: molecular pathogenesis informs current approaches to therapy and hematopoietic cell transplantationNoonan syndromeConnecting teratogen-induced congenital heart defects to neural crest cells and their effect on cardiac functionThe neural crest in cardiac congenital anomaliesCorrelation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib.JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entitiesRAS diseases in childrenStructural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathiesGain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signalingGenome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothoraxClonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations.Novel SHP-1 inhibitors tyrosine phosphatase inhibitor-1 and analogs with preclinical anti-tumor activities as tolerated oral agents.Critical Role for GAB2 in Neuroblastoma Pathogenesis through the Promotion of SHP2/MYCN Cooperation.SHP-2 is required for the maintenance of cardiac progenitors.Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemiaNoonan syndrome: clinical aspects and molecular pathogenesis.Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromesA possible case of cherubism in a 17th-century Korean mummy.Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.Clinical and Molecular Findings of Tunisian Patients with RASopathies.Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeSOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsGrowth hormone therapy for syndromic disorders.Understanding intellectual disability through RASopathies.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.Noonan syndrome and clinically related disorders.SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
P2860
Q21202917-42AFF46A-BF82-4F12-9593-73383638C9A8Q24293473-0391CCDF-0BE4-46E6-8233-14E0F6C3FE4CQ24540529-A9CF896F-96EB-4C54-A3F8-0A3933E7CC69Q24621710-B76DB1B6-331C-4A7C-980A-B51C729BB8CFQ24656142-CDFE320F-0917-4492-A2B6-3492FEAE8B29Q26851000-34EE3116-93EF-418D-B089-B3C780C4175BQ27001641-158B65D7-4241-4556-83F8-474D29F27E34Q27015114-C03EE28C-6AF5-4816-8257-408FA4D82FD0Q27024385-D703C597-0DD6-4866-99AD-862C34DC57B0Q27853179-CD81234B-5BE3-441C-8BD4-72FA40BBC51FQ28082598-F67238B7-34DD-4E0D-B06F-B15C46460314Q28252058-7F503E9C-FFFC-46DA-97F5-DBCDB2FE571FQ29147386-E2B35A43-EA33-40EB-B2FC-3338BD2F7FA9Q30439033-D224973C-01D6-47CA-BF1B-92B3B4758494Q30477015-DA6E7B58-45DA-42DB-9D85-115DAF969E85Q31057206-E3B70234-29E5-4B8E-9DDB-C000E7E1A82AQ33558105-3CBE3316-B421-40E5-81F5-3F0E4AAD00C4Q33565239-B53896BE-BC44-423F-B111-8EAE922D39B7Q33568776-D1A88E45-9124-4AD7-96DC-9ED60A0A6B6AQ33595597-6AD6CC4B-A7C9-4CAA-A3DD-22965533E7C5Q33722741-68FC9231-C576-4238-858A-B6C2F0712DBEQ33774508-A7927526-8443-4CEF-9757-5B58F88BD2FEQ33806161-06A5D46A-3583-42A1-84E2-AA507AD0FAF0Q33910077-BA89CAFD-2D2D-421B-8E90-CBF85D859088Q33979110-42790795-0D3B-4B0C-A30B-BE05C6EEE680Q34004765-A63CFEF7-6FED-4E59-9F4F-05EA40B631C2Q34130332-FD616D27-2BC8-4FDC-9A1E-CF6B99871C4CQ34137459-1569B2C5-616C-4A6D-B30B-DCB18332FF8EQ34299836-910A10A3-4357-4FDD-B5EB-04F9685ED323Q34326050-1FBC2961-3794-4453-87A5-A64088A92FD1Q34327160-15975723-E0C9-45D5-AE9E-713A73378248Q34421680-8624B1F1-3B52-4B0B-BE40-F5FBB9AB72CAQ34425369-EEEEE305-49FB-40FA-954F-DEFB678A8895Q34440570-DB73045B-A996-46C6-83DB-355308F13384Q34534517-A1576884-F13C-43F0-9F9C-6D46C9E8A680Q34558084-17DB2C39-97D6-4719-AD08-7B08893FBF90Q34567819-64185ABD-ACAE-4E7F-B1AE-D670EB51C1D9Q34627120-B43B1A7E-AA96-49A1-A07B-89C3E778206FQ34678373-373DE77E-4F1B-4BF2-B98D-4CC31D352986Q35056507-EAC2E004-27D3-4066-8B04-AD38EB1EBFA8
P2860
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
description
2002 nî lūn-bûn
@nan
2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@ast
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@en
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@nl
type
label
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@ast
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@en
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@nl
prefLabel
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@ast
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@en
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@nl
P2093
P2860
P50
P356
P1476
PTPN11 mutations in Noonan syn ...... , and phenotypic heterogeneity
@en
P2093
Andrew Crosby
Dan L Musat
Han G Brunner
Ineke van der Burgt
Kamini Kalidas
Michael A Patton
Raju S Kucherlapati
Steve Jeffery
P2860
P304
P356
10.1086/340847
P407
P577
2002-05-01T00:00:00Z