Hélène Cavé Selected Research

Noonan Syndrome (Female Pseudo-Turner Syndrome)

10/2022	Inflammatory response in hematopoietic stem and progenitor cells triggered by activating SHP2 mutations evokes blood defects.
1/2022	Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
1/2020	Oligo-astrocytoma in LZTR1-related Noonan syndrome.
1/2019	Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
1/2017	Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
12/2016	Biopsy-Induced Duodenal Hematoma Is Not an Infrequent Complication Favored by Bone Marrow Transplantation.
3/2016	Acute lymphoblastic leukemia in the context of RASopathies.
11/2015	Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
8/2014	Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
10/2013	Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

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Hélène Cavé Research Topics

Disease

19	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia) 07/2022 - 11/2005
12	Noonan Syndrome (Female Pseudo-Turner Syndrome) 10/2022 - 12/2007
10	Neoplasms (Cancer) 10/2022 - 03/2013
8	Leukemia 01/2022 - 11/2005
5	Juvenile Myelomonocytic Leukemia 10/2022 - 01/2015
5	Residual Neoplasm 01/2019 - 11/2005
4	Diabetes Mellitus 01/2020 - 01/2007
3	Philadelphia Chromosome 10/2021 - 01/2018
3	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma (T-ALL) 01/2019 - 11/2010
2	Permanent Neonatal Diabetes Mellitus 01/2018 - 01/2007
2	Costello Syndrome 01/2017 - 12/2007
2	Fetal Growth Retardation (Intrauterine Growth Retardation) 11/2013 - 10/2002
1	Diarrhea 01/2022
1	Mitchell-Riley Syndrome 01/2022
1	Familial duodenal atresia 01/2022
1	Cytokine Release Syndrome 12/2021
1	Cherubism 08/2020
1	Insulin Resistance 01/2020
1	Mason-Type Diabetes 01/2020
1	Cognitive Dysfunction 01/2019
1	Facies 01/2019
1	Non-Hodgkin Lymphoma (Lymphosarcoma) 10/2017
1	Infections 10/2017
1	Hypersensitivity (Allergy) 10/2017
1	Neuroepithelial Neoplasms (Gliomatosis Cerebri) 04/2017
1	Hematoma 12/2016
1	Graft vs Host Disease (Graft-Versus-Host Disease) 12/2016
1	monosomy Chromosome 7 03/2016
1	Neurofibromatosis 1 (Neurofibromatosis Type I) 01/2016
1	Carcinogenesis 10/2015
1	Inborn Genetic Diseases (Disease, Hereditary) 06/2014
1	Thrombocytopenia (Thrombopenia) 03/2014
1	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 01/2014
1	Epilepsy (Aura) 11/2013
1	Sarcoma (Soft Tissue Sarcoma) 10/2013
1	Arthritis (Polyarthritis) 10/2013
1	Pericarditis 10/2013
1	T-Cell Leukemia (Leukemia, T Cell) 11/2010
1	T-Cell Lymphoma (Lymphoma, T Cell) 04/2008

Drug/Important Bio-Agent (IBA)

5	Insulin (Novolin)FDA Link 01/2020 - 10/2002
5	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/2018 - 11/2005
4	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2006
4	Imatinib Mesylate (Gleevec)FDA Link 08/2020 - 03/2014
3	Transcription Factors (Transcription Factor)IBA 01/2022 - 11/2010
3	Tyrosine Kinase InhibitorsIBA 10/2019 - 03/2014
3	Immunoglobulins (Immunoglobulin)IBA 01/2018 - 11/2005
3	DNA (Deoxyribonucleic Acid)IBA 01/2016 - 03/2013
3	KATP ChannelsIBA 01/2014 - 01/2007
2	Pharmaceutical PreparationsIBA 01/2022 - 09/2015
2	blinatumomabIBA 12/2021 - 01/2021
2	MicroRNAs (MicroRNA)IBA 01/2020 - 10/2015
2	Potassium Channels (Potassium Channel)IBA 01/2020 - 01/2018
2	Asparaginase (Elspar)FDA Link 01/2019 - 10/2017
2	Biological ProductsIBA 01/2019 - 03/2016
2	antineoplaston A10 (A 10)IBA 12/2018 - 01/2016
2	Long Noncoding RNAIBA 11/2018 - 01/2016
2	GTP Phosphohydrolases (GTPases)IBA 01/2017 - 08/2014
2	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 08/2014 - 12/2007
2	Dexamethasone (Maxidex)FDA LinkGeneric 07/2014 - 04/2008
1	Protein Tyrosine PhosphatasesIBA 10/2022
1	Biomarkers (Surrogate Marker)IBA 07/2022
1	MitogensIBA 01/2022
1	Protein Kinases (Protein Kinase)IBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	tisagenlecleucelIBA 12/2021
1	ruxolitinibIBA 10/2021
1	ponatinibIBA 10/2021
1	AntigensIBA 01/2021
1	Gemtuzumab (Mylotarg)FDA Link 01/2021
1	Tacrolimus (Prograf)FDA LinkGeneric 08/2020
1	Circular RNAIBA 01/2020
1	Growth Hormone (Somatotropin)IBA 01/2020
1	Arginine (L-Arginine)FDA Link 01/2020
1	CytokinesIBA 01/2019
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/2019
1	Hormones (Hormone)IBA 01/2019
1	2,6-dinitrotoluene (DNT)IBA 04/2017
1	SH2 Domain-Containing Protein Tyrosine PhosphatasesIBA 01/2017
1	Fetal Hemoglobin (Hemoglobin F)IBA 03/2016
1	Adrenal Cortex Hormones (Corticosteroids)IBA 03/2016
1	Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA 11/2015
1	ProinsulinIBA 01/2015
1	Prednisolone (Predate)FDA LinkGeneric 07/2014
1	Hemoglobins (Hemoglobin)IBA 03/2014
1	Antinuclear AntibodiesIBA 10/2013
1	Mitogen-Activated Protein KinasesIBA 10/2013
1	Kruppel-Like Transcription Factors (Kruppel-Like Factors)IBA 08/2011
1	Homeodomain Proteins (Proteins, Homeobox)IBA 11/2010
1	Serine (L-Serine)FDA Link 03/2010

Therapy/Procedure

13	Therapeutics 01/2022 - 04/2011
3	Drug Therapy (Chemotherapy) 01/2019 - 03/2016
2	Hematopoietic Stem Cell Transplantation 01/2021 - 01/2015
2	Transplantation 04/2015 - 01/2015
1	Aftercare (After-Treatment) 01/2022
1	Cell Transplantation 01/2019
1	Homologous Transplantation 01/2019
1	Cranial Irradiation 01/2019
1	Stem Cell Transplantation 12/2018
1	Combination Drug Therapy (Combination Chemotherapy) 10/2017
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 12/2016