List of works by Hélène Cavé

'Cobblestone' papillomatous linear papules of the upper lip: a new sign of Costello syndrome.

scientific article published on 18 January 2013

A Phase I Study of Clofarabine With Multiagent Chemotherapy in Childhood High Risk Relapse of Acute Lymphoblastic Leukemia (VANDEVOL Study of the French SFCE Acute Leukemia Committee).

scientific article published on 16 September 2015

A low rate of loss of heterozygosity is found at many different loci in childhood B-lineage acute lymphocytic leukemia.

scientific article published in September 1996

A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome.

scientific article published in May 2005

A new recurrent translocation t(11;14)(q24;q32) involving IGH@ and miR-125b-1 in B-cell progenitor acute lymphoblastic leukemia.

scientific article published on 20 May 2010

A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome.

scientific article published in September 2007

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

article

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

scientific article

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

scientific article published on 23 May 2019

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

scientific article

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

scientific article

Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group

scientific article

Acute lymphoblastic leukemia in the context of RASopathies

scientific article published on 4 February 2016

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

scientific article

An intragenic ERG deletion is a marker of an oncogenic subtype of B-cell precursor acute lymphoblastic leukemia with a favorable outcome despite frequent IKZF1 deletions.

scientific article published on 25 September 2013

Analysis of ETV6 and ETV6‐AML1 proteins in acute lymphoblastic leukaemia ⬇️

scientific article published on July 1, 1997

Analysis of minimal residual disease by Ig/TCR gene rearrangements: guidelines for interpretation of real-time quantitative PCR data.

scientific article

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

article

Biopsy-Induced Duodenal Hematoma Is Not an Infrequent Complication Favored by Bone Marrow Transplantation

scientific article published on 9 March 2016

Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia.

scientific article published on 12 October 2012

Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.

scientific article

CD200/BTLA deletions in pediatric precursor B-cell acute lymphoblastic leukemia treated according to the EORTC-CLG 58951 protocol

scientific article

CDKN2A, CDKN2B, and MTAP gene dosage permits precise characterization of mono- and bi-allelic 9p21 deletions in childhood acute lymphoblastic leukemia

scientific article published in May 2003

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

scientific article

Childhood secondary ALL after ALL treatment.

scientific article

CircRNAs Dysregulated in Juvenile Myelomonocytic Leukemia: CircMCTP1 Stands Out

scientific article published on 01 January 2020

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

article published in 2018

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

scientific article published on 24 July 2008

Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951

scientific article (publication date: 15 January 2004)

Clinical value of pre-transplant minimal residual disease in childhood lymphoblastic leukaemia: the results of the French minimal residual disease-guided protocol

scientific article published on 30 January 2014

Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRbeta-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique.

scientific article

Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies: an international collaborative study. Preliminary communication.

scientific article published in May 2015

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

scientific article published on 28 June 2014

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

scientific article published on 7 August 2012

Conversion of HIV-1 viral markers during the first few months of life in HIV-infected children born to seropositive mothers.

scientific article published in June 1993

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

scientific article published on 22 July 2016

Correction: Despite mutation acquisition in hematopoietic stem cells, JMML-propagating cells are not always restricted to this compartment

scientific article published on 31 January 2020

Criteria for evaluating response and outcome in clinical trials for children with juvenile myelomonocytic leukemia

scientific article

Deletion mapping indicates that MTS1 is the target of frequent deletions at chromosome 9p21 in paediatric acute lymphoblastic leukaemias.

scientific article published in February 1996

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

scientific article published on 18 January 2019

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

scientific article published on 30 September 2018

Despite mutation acquisition in hematopoietic stem cells, JMML-propagating cells are not always restricted to this compartment

scientific article published on 27 November 2019

Dexamethasone (6 mg/m2/day) and prednisolone (60 mg/m2/day) were equally effective as induction therapy for childhood acute lymphoblastic leukemia in the EORTC CLG 58951 randomized trial

scientific article

Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.

scientific article published in January 2007

Different outcome of T cell acute lymphoblastic leukemia with translocation t(11;14) treated in two consecutive children leukemia group EORTC trials.

scientific article published on 12 October 2015

Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia: results of the EORTC CLG 58881 and 58951 trials

scientific article published on 19 September 2017

Differentiating Transient Idiopathic Hyperglycaemia and Neonatal Diabetes Mellitus in Preterm Infants.

scientific article published on 12 May 2015

Differentiation of Escherichia coli strains using randomly amplified polymorphic DNA analysis.

scientific article published in February 1994

Direct detection of verotoxin genes in stool samples by polymerase chain reaction in hemolytic uremic syndrome patients in France.

scientific article published in February 1997

Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.

scientific article

Distinctive genotypes in infants with T-cell acute lymphoblastic leukaemia.

scientific article published on 24 July 2015

Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome

scientific article published on 7 December 2017

Early onset diabetes mellitus

scientific article published in December 2013

Efficacy of tyrosine kinase inhibitors in Ph-like acute lymphoblastic leukemia harboring ABL-class rearrangements

scientific article published on 01 October 2019

Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.

scientific article published on 26 July 2010

Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death

scientific article published on 24 March 2017

Expansion of polyclonal B-cell precursors in bone marrow from children treated for acute lymphoblastic leukemia

scientific article published in June 1997

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

scientific article published on 23 April 2012

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation

scientific article published on 25 April 2017

Fluorometric detection of HIV-1 genome through use of an internal control, inosine-substituted primers, and microtiter plate format.

scientific article published in May 1996

Follow-up of post-transplant minimal residual disease and chimerism in childhood lymphoblastic leukaemia: 90 d to react.

scientific article published on 19 December 2014

Four-color flow cytometry bypasses limitations of IG/TCR polymerase chain reaction for minimal residual disease detection in certain subsets of children with acute lymphoblastic leukemia

scientific article published in November 2005

From Noonan syndrome to juvenile myelomonocytic leukemia

scientific article published in June 2008

Gene symbol: BRAF. Disease: Cardio-facio-cutaneous syndrome

scientific article

Gene symbol: KRAS. Disease: Cardio-facio-cutaneous syndrome

scientific article published in February 2008

Gene symbol: MAP2K1. Disease: Cardio-Facio-Cutaneous syndrome.

scientific article published in June 2008

Genetic characterization and therapeutic targeting of MYC-rearranged T cell acute lymphoblastic leukaemia

scientific article published on 25 June 2018

Genetic predisposition to acute lymphoblastic leukemia: Overview on behalf of the I-BFM ALL Host Genetic Variation Working Group

scientific article

Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia

scientific article published on 30 November 2016

Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options

scientific article

Genotype and phenotype spectrum of NRAS germline variants

scientific article published on 3 May 2017

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

scientific article

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.

scientific article published in November 2010

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

scientific article

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

scientific article published on 12 June 2010

Growth patterns of patients with Noonan syndrome: correlation with age and genotype

scientific article

Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group

scientific article published on 2 January 2008

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

scientific article published on 16 September 2013

Human MLL/KMT2A gene exhibits a second breakpoint cluster region for recurrent MLL-USP2 fusions

scientific article published on 21 March 2019

Human pancreas endocrine cell populations and activating ABCC8 mutations.

scientific article

Hyperdiploidy with 58-66 chromosomes in childhood B-acute lymphoblastic leukemia is highly curable: 58951 CLG-EORTC results.

scientific article published on 15 January 2013

IKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia, and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Children's Leukemia Group study 58951.

scientific article published on 8 June 2015

IKZF1 deletions in pediatric acute lymphoblastic leukemia: still a poor prognostic marker?

scientific article published on 01 January 2020

IKZF1 status as a prognostic feature in BCR-ABL1-positive childhood ALL.

scientific article

IKZF1plus Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia

scientific article published on 2 March 2018

Identification of a clone of Escherichia coli O103:H2 as a potential agent of hemolytic-uremic syndrome in France

scientific article

Identification of a clone of Escherichia coli O103:H2 as potential agent of hemolytic-uremic syndrome in France.

scientific article published in March 1994

Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling.

scholarly article

Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia

scientific journal article

Imatinib treatment of paediatric Philadelphia chromosome-positive acute lymphoblastic leukaemia (EsPhALL2010): a prospective, intergroup, open-label, single-arm clinical trial

scientific article published on 01 December 2018

Improved outcome with pulses of vincristine and corticosteroids in continuation therapy of children with average risk acute lymphoblastic leukemia (ALL) and lymphoblastic non-Hodgkin lymphoma (NHL): report of the EORTC randomized phase 3 trial 58951

scientific article

In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.

scientific article published on 4 July 2013

Infant acute leukemia

scientific article published on 27 January 2016

Inflammatory response in hematopoietic stem and progenitor cells triggered by activating SHP2 mutations evokes blood defects

scientific article published on 10 May 2022

Intragenic amplification of : a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

scientific article published on 14 August 2017

Juvenile myelomonocytic leukaemia and Noonan syndrome.

scientific article published on 5 August 2014

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.

scientific article published on 12 October 2015

Juvenile myelomonocytic leukemias

scientific article published in March 2014

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

scientific article published in October 2004

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity

scientific article

LIN28B is over-expressed in specific subtypes of pediatric leukemia and regulates lncRNA H19.

scientific article published on 11 March 2016

LIN28B overexpression defines a novel fetal-like subgroup of juvenile myelomonocytic leukemia.

scientific article published on 28 December 2015

Large deletions of the 5' region of IKZF1 lead to haploinsufficiency in B-cell precursor acute lymphoblastic leukaemia

scientific article published on 30 May 2019

Late recurrence of childhood T-cell acute lymphoblastic leukemia frequently represents a second leukemia rather than a relapse: first evidence for genetic predisposition.

scientific article published on 28 February 2011

Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study

scientific article published on 09 April 2020

Long-term malignant hematopoiesis in human acute leukemia bone marrow biopsies implanted in severe combined immunodeficiency mice.

scientific article published in September 1997

Loss of heterozygosity in the chromosomal region 12p12-13 is very common in childhood acute lymphoblastic leukemia and permits the precise localization of a tumor-suppressor gene distinct from p27KIP1.

scientific article published in November 1995

Molecular analysis of multiply recurrent meningitis due to Escherichia coli K1 in an infant.

scientific article published in January 1993

Molecular analysis of nonrandom 8q12 deletions in acute lymphoblastic leukemia: identification of two candidate genes.

scientific article published in February 2002

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

scientific article

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

scientific article published in April 2007

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

scientific article published on 13 January 2016

Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.

scientific article

Mutations of PTPN11 are rare in adult myeloid malignancies

scientific article

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia.

scientific article published on 7 October 2015

NOTCH1 and FBXW7 mutations have a favorable impact on early response to treatment, but not on outcome, in children with T-cell acute lymphoblastic leukemia (T-ALL) treated on EORTC trials 58881 and 58951.

scientific article published on 23 September 2010

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

article

Neonatal Diabetes Mellitus

scientific article published on 30 September 2020

Neonatal diabetes due to potassium channel mutation: response to sulfonylurea according to the genotype

scientific article published on 16 May 2020

Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.

scientific article published in October 2002

Neonatal diabetes: a disease linked to multiple mechanisms

scientific article published on 10 October 2007

Neonatal hyperglycaemia and abnormal development of the pancreas.

scientific article published on February 2008

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

scientific article

New ABCC8 mutations in relapsing neonatal diabetes and clinical features

scientific article

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

scientific article published on 24 July 2017

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency

scientific article published on 01 December 2018

Oligo-astrocytoma in LZTR1-related Noonan syndrome

scientific article published on 19 January 2019

Oncogenetics and minimal residual disease are independent outcome predictors in adult patients with acute lymphoblastic leukemia

scientific article

Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study

scientific article published on 18 January 2019

Overexpression of CEBPA resulting from the translocation t(14;19)(q32;q13) of human precursor B acute lymphoblastic leukemia.

scientific article

PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study.

scientific article published on 9 July 2009

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

scientific article

Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history

scientific article published on 14 December 2012

Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?

scientific article published on 20 November 2009

Predictive value of minimal residual disease in Philadelphia-chromosome-positive acute lymphoblastic leukemia treated with imatinib in the European intergroup study of post-induction treatment of Philadelphia-chromosome-positive acute lymphoblastic l

scholarly article by Giovanni Cazzaniga et al published January 2018 in Haematologica

Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy.

scientific article published on October 2002

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

scientific article published on 10 October 2018

Prolonged versus standard native E. coli asparaginase therapy in childhood acute lymphoblastic leukemia and non-Hodgkin lymphoma: final results of the EORTC-CLG randomized phase III trial 58951.

scientific article

Prospective monitoring and quantitation of residual blasts in childhood acute lymphoblastic leukemia by polymerase chain reaction study of delta and gamma T-cell receptor genes.

scientific article published in April 1994

Quantitative analysis of chimerism after allogeneic stem cell transplantation by PCR amplification of microsatellite markers and capillary electrophoresis with fluorescence detection: the Paris-Robert Debré experience.

scientific article

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia

scientific article published in March 2014

RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells

scientific article

Refinement of IKZF1 status in pediatric Philadelphia-positive acute lymphoblastic leukemia.

scientific article published on 17 March 2015

Reliability of PCR directly from stool samples: usefulness of an internal standard.

scientific article published in May 1994

Results of successive EORTC-CLG 58 881 and 58 951 trials in paediatric T-cell acute lymphoblastic leukaemia (ALL)

scientific article published on 24 May 2019

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

scientific article

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

scientific article

Standardisation and consensus guidelines for minimal residual disease assessment in Philadelphia-positive acute lymphoblastic leukemia (Ph + ALL) by real-time quantitative reverse transcriptase PCR of e1a2 BCR-ABL1

scientific article published on 11 March 2019

Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia - a Europe Against Cancer program.

scientific article published on December 2003

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

scientific journal article

Submicroscopic bone marrow involvement in isolated extramedullary relapses in childhood acute lymphoblastic leukemia: a more precise definition of "isolated" and its possible clinical implications, a collaborative study of the Resistant Disease Comm

scientific article

Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities.

scientific article published on 4 March 2018

The EuroChimerism concept for a standardized approach to chimerism analysis after allogeneic stem cell transplantation.

scientific article

The MLL recombinome of acute leukemias in 2013.

scientific article

The MLL recombinome of acute leukemias in 2017.

scientific article published on 13 July 2017

The TLX1 oncogene drives aneuploidy in T cell transformation

scientific article

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

scientific article published on 20 October 2020

The long non-coding RNA landscape in juvenile myelomonocytic leukemia

scientific article published on 01 June 2018

The prognostic significance of CDKN2A, CDKN2B and MTAP inactivation in B-lineage acute lymphoblastic leukemia of childhood. Results of the EORTC studies 58881 and 58951.

scientific article

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene

scientific article

Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.

scientific article published on 24 March 2017

Treatment of childhood T-cell lymphoblastic lymphoma according to the strategy for acute lymphoblastic leukaemia, without radiotherapy: long term results of the EORTC CLG 58881 trial

scientific article published on 14 March 2008

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

scientific article published on 12 August 2020

Wilms tumor 1 (WT1) gene mutations in pediatric T-cell malignancies.

scientific article published on 22 October 2009

[RAS signalling pathway and its syndromes]

scientific article published on 5 April 2007

t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH).

scientific article published in September 2003

Paulina is supported by:

About Paulina

Help