about
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisMutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairDiversity and functional consequences of germline and somatic PTPN11 mutations in human disease.Noonan syndromeGain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeGerm-line and somatic PTPN11 mutations in human diseasePractical guidance on informed consent for pediatric participants in a biorepositoryStructural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeConstruction of Defined Human Engineered Cardiac Tissues to Study Mechanisms of Cardiac Cell TherapyFgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes.Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndromeDiverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromesCharacteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapyDisorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsPTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityNoonan syndrome and related disorders: genetics and pathogenesis.Noonan syndrome and clinically related disorders.Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes.Atenolol versus losartan in children and young adults with Marfan's syndrome.A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.Cardiomyopathies in Noonan syndrome and the other RASopathies.Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of PediaGenetics of congenital heart diseaseThe Congenital Heart Disease Genetic Network Study: rationale, design, and early results.Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes.Loss of RNA expression and allele-specific expression associated with congenital heart disease.Effect of copy number variants on outcomes for infants with single ventricle heart defects.Noonan syndrome: clinical features, diagnosis, and management guidelines.Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders.Role of copy number variants in structural birth defects.Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it.The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes.
P50
Q24294030-2DE30B51-5448-4C84-8A81-B59190A604B3Q24336157-86B70B7A-4CAB-4A52-A1F6-54A8EDA34D4FQ24540529-03974538-CF13-4723-A5E4-B04637F4AA53Q27001641-B500B38A-CF9A-4D56-8CDD-6373C5B46C3FQ27865193-3207B8A5-4745-4A43-9D0F-EAAE1D02C777Q28208136-210EEFDD-45B1-4F09-8616-75D37CEDF757Q28264474-3711C784-4766-4E02-A2B9-073F8A85B80BQ28650458-9B354B26-4BD9-471E-88D3-9B50A4D1DF36Q29147386-E627A3FD-11B2-43FD-AD3A-527ECEBCF42AQ31056955-951CDB37-C645-4276-80F1-F846F4B8FAEAQ33521703-D71DD18C-4C90-498E-8A25-4D8A7B8FCE58Q33910077-DFD72E0F-F74C-48DA-89FB-5ECE54FB352FQ33910479-42416E4C-BBFD-40D2-B95D-1CC18BD15995Q33979110-BA68B15D-F651-44CF-BBC9-8A59822D68EEQ34039474-BD341F50-EC93-4B1B-96E1-BF226F2AC4F9Q34440570-8C5AD233-7F43-47CB-B1FF-936A3CAECC8CQ34522913-21580223-A110-45B2-958A-40062FA38D6FQ34560418-F35B5DAB-3E05-48BA-9DD6-145AA67C0BDFQ34678373-B62C4BCA-6651-4F18-BDB2-2119EDFB0C0FQ35011843-A9A4B05D-7EDE-4FF6-BA08-89EFAA574B3FQ35282583-54BD0FDE-EE4F-4B9C-88A9-73F280A30F01Q35671221-ECAF738C-2A7A-40B0-9DDB-CEA28AB7979AQ35847884-A6500FB6-0611-4335-85FB-D75D5135065DQ36057294-4304961F-ED85-40D9-89FF-99B1C09CD008Q36157128-8D4FB8C5-198E-4720-9665-39F7D9B7F442Q36599297-AAACEFCD-699D-4354-ABBB-264F701D449CQ36829213-90241787-A484-466A-894B-FA2693ADC239Q36905138-0880D563-46D1-427D-8DD5-2ECB24245D0FQ36919920-7D2C4A95-9CFC-4CF4-9D8B-909E559AC993Q37102143-D1DFA6DD-3281-4460-B065-49F68335331EQ37274416-9AEDE50D-E2AD-4B00-A041-D27D0E45A056Q37314958-F6CC299D-BFC7-4A3B-9034-972C90477CF2Q37704931-62AD387F-F6FF-4E43-A553-419BBE34C328Q37793648-C995336A-E8D2-4232-A3E2-A5F005C3D662Q37859600-1E1A1780-0B69-48D8-88B0-8A14BA85AE15Q37995028-A95C313F-553A-4C57-8282-7BE86FF4397AQ39999145-7806A524-38BE-45A5-8A0A-0E5C3E23F56FQ40587895-1EF3F036-CA6A-4C6B-98B3-8C1189A42861Q42157466-2EAB5ECB-08EE-46C1-95AD-758C6E0E4D66Q43077882-1FC376D0-BD83-49F1-8D65-F723362CA3F5
P50
description
medical researcher
@en
name
Bruce D. Gelb
@ast
Bruce D. Gelb
@en
Bruce D. Gelb
@nl
type
label
Bruce D. Gelb
@ast
Bruce D. Gelb
@en
Bruce D. Gelb
@nl
altLabel
Bruce Gelb
@en
prefLabel
Bruce D. Gelb
@ast
Bruce D. Gelb
@en
Bruce D. Gelb
@nl
P21
P31
P496
0000-0001-8527-5027