Helene Cavé

Helene Cavé

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Helene Cavé

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Oligo-astrocytoma in LZTR1-related Noonan syndrome.

Eur J Med Genet 2019 Jan 19. Epub 2019 Jan 19.

Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France; INSERM UMR1141, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.007DOI Listing
January 2019

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

Haematologica 2018 06 7;103(6):e274-e276. Epub 2017 Dec 7.

Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, France

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http://dx.doi.org/10.3324/haematol.2017.178590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058797PMC
June 2018

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

Pediatr Diabetes 2018 06 4;19(4):663-669. Epub 2018 Mar 4.

Service Endocrinologie, Gynécologie et Diabétologie Pédiatrique, Hôpital Universitaire Necker Enfants Malades Paris, Assistance Publique-Hôpitaux de Paris, France.

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http://dx.doi.org/10.1111/pedi.12635DOI Listing
June 2018

IKZF1 Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia.

J Clin Oncol 2018 04 2;36(12):1240-1249. Epub 2018 Mar 2.

Martin Stanulla, Elif Dagdan, Stefanie V. Junk, Laura Hinze, Norman Klein, Christian P. Kratz, Petra Dörge, Doris Steinemann, and Martin Zimmermann, Hannover Medical School; Petra Dörge, German Center for Infection Research, Hannover; Anja Möricke, Kirsten Bleckmann, Denis Schewe, Gunnar Cario, and Martin Schrappe, University Hospital Schleswig-Holstein; Britt-Sabina Petersen and Andre Franke, Kiel University, Kiel; Cornelia Eckert and Stefanie Groeneveld-Krentz, Charité University Hospital; Wolf-Dieter Ludwig, HELIOS-Clinic Berlin-Buch, Berlin; Rolf Koehler, Claus R. Bartram, Andreas Kulozik, and Martina U. Muckenthaler, University of Heidelberg, Heidelberg; Arndt Borkhardt, Heinrich-Heine University, Düsseldorf, Germany; Marketa Zaliova, Charles University and University Hospital Motol, Prague, Czech Republic; Chiara Palmi, Giovanni Cazzaniga, and Andrea Biondi, Azienda Ospedaliera San Gerardo; Maria Grazia Valsecchi, University of Milano-Bicocca, Monza; Geertruy te Kronnie and Giuseppe Basso, University of Padova, Padua, Italy; Jean-Pierre Bourquin and Beat Bornhauser, University Children's Hospital Zurich, Zurich, Switzerland; Shai Izraeli, Sheba Medical Center Tel-Hashomer and Tel Aviv University, Tel Aviv, Israel; Oskar A. Haas and Renate Panzer-Grümayer, St Anna Kinderkrebsforschung and Medical University Vienna, Vienna, Austria; Hélène Cavé, Robert Debré Hospital and Paris-Diderot University, Paris, France; and Richard S. Houlston, The Institute of Cancer Research, London, United Kingdom.

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http://dx.doi.org/10.1200/JCO.2017.74.3617DOI Listing
April 2018

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

Otol Neurotol 2017 09;38(8):1081-1084

*APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Service de Génétique Médicale †APHP, Hôpital Necker Enfants Malades, Service d'otorhinolaryngologie ‡APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Laboratoire de Génétique moléculaire §APHP, Hôpital Robert Debré ||APHP, Hôpital Necker-Enfants malades, Département de Génétique, Paris, France.

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http://dx.doi.org/10.1097/MAO.0000000000001509DOI Listing
September 2017

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

Eur J Med Genet 2017 Jul 25;60(7):395-398. Epub 2017 Apr 25.

Service d'Anatomopathologie, CHU Hôpital Morvan, Brest, France, EA 4685 LNB UBO, Brest, France.

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http://dx.doi.org/10.1016/j.ejmg.2017.03.014DOI Listing
July 2017

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

Eur J Med Genet 2017 Jun 25;60(6):299-302. Epub 2017 Mar 25.

Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.03.009DOI Listing
June 2017

Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.

Am J Med Genet A 2017 Apr;173(4):1061-1065

Neuropathology, University Laboratory of Pathology, CHU Toulouse, Université Toulouse III-Paul Sabatier, Toulouse, France.

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http://dx.doi.org/10.1002/ajmg.a.38108DOI Listing
April 2017

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

J Pediatr Gastroenterol Nutr 2016 12;63(6):627-632

*Department of Pediatric Digestive and Pulmonary Diseases, APHP †Radiology Department, Robert-Debré Hospital, APHP ‡INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité §Département de Génétique, Hôpital Robert Debré, Paris, France.

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http://Insights.ovid.com/crossref?an=00005176-201612000-0001
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http://dx.doi.org/10.1097/MPG.0000000000001176DOI Listing
December 2016

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

Orphanet J Rare Dis 2016 07 22;11(1):101. Epub 2016 Jul 22.

Service de Génétique et Biologie Moléculaires, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Bâtiment Jean Dausset, 3ème étage, 27 rue du Faubourg Saint Jacques, Paris, France.

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http://dx.doi.org/10.1186/s13023-016-0479-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957908PMC
July 2016

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

Horm Res Paediatr 2015 12;84(1):68-72. Epub 2015 May 12.

Paediatric Endocrinology, Gynaecology, and Diabetology, Necker Enfants-Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1159/000381621DOI Listing
May 2016

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

Eur J Endocrinol 2016 May 22;174(5):641-50. Epub 2016 Feb 22.

EndocrineBone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital, Toulouse, France INSERM UMR 1043Centre of Pathophysiology of Toulouse Purpan (CPTP), University of Toulouse Paul Sabatier, Toulouse, France

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http://dx.doi.org/10.1530/EJE-15-0922DOI Listing
May 2016

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

Eur J Med Genet 2016 Mar 15;59(3):111-5. Epub 2015 Dec 15.

Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France; INSERM UMR 1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.10.003DOI Listing
March 2016

[Infant acute leukemia].

Bull Cancer 2016 Mar 27;103(3):299-311. Epub 2016 Jan 27.

Assistance publique-Hôpitaux de Paris, hôpital Robert-Debré, hématologie et immunologie pédiatrique, 48, boulevard Sérurier, 75019 Paris, France; Université Paris-Diderot, Paris, France.

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http://dx.doi.org/10.1016/j.bulcan.2015.11.009DOI Listing
March 2016

Acute lymphoblastic leukemia in the context of RASopathies.

Eur J Med Genet 2016 Mar 5;59(3):173-8. Epub 2016 Feb 5.

Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France; INSERM UMR 1141, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2016.01.003DOI Listing
March 2016

Prenatal findings in cardio-facio-cutaneous syndrome.

Am J Med Genet A 2016 Feb 22;170A(2):441-445. Epub 2015 Oct 22.

Centre de référence des anomalies du développement et syndrome malformatif PACA, Département de Génétique Médicale, Hôpital de la Timone Enfant, AP-HM, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37420DOI Listing
February 2016

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations.

Diabetes Care 2015 Nov 5;38(11):2033-41. Epub 2015 Oct 5.

Service Endocrinologie, Gynécologie et Diabétologie Pédiatrique, Hôpital Universitaire Necker Enfants Malades Paris, Assistance Publique-Hôpitaux de Paris, Paris, France Faculté de Médecine, Paris Descartes-Université Sorbonne Paris Cité, Paris, France Inserm U1016, Institut Cochin, Paris, France Inserm UMR 1163, Institut Imagine, Paris Descartes-Université Sorbonne Paris Cité, Paris, France

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http://dx.doi.org/10.2337/dc15-0837DOI Listing
November 2015

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

Cell Rep 2015 Oct 8;13(3):504-515. Epub 2015 Oct 8.

The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618050PMC
October 2015

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

Nat Genet 2015 Sep 27;47(9):1020-1029. Epub 2015 Jul 27.

Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1038/ng.3362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603357PMC
September 2015

Human pancreas endocrine cell populations and activating ABCC8 mutations.

Horm Res Paediatr 2014 14;82(1):59-64. Epub 2014 Jun 14.

INSERM U1016, Université Paris Descartes, Sorbonne Paris Cité (UPD-SPC), Department of Paediatric Endocrinology, Gynaecology, and Diabetology, Necker Enfants-Malades Teaching Hospital (NEMTH), Assistance Publique-Hôpitaux de Paris (APHP), IMAGINE Affiliate, Paris, France.

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http://dx.doi.org/10.1159/000360004DOI Listing
March 2015

Juvenile myelomonocytic leukaemia and Noonan syndrome.

J Med Genet 2014 Oct 5;51(10):689-97. Epub 2014 Aug 5.

INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.

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http://jmg.bmj.com/content/early/2014/08/05/jmedgenet-2014-1
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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2014-102611
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http://dx.doi.org/10.1136/jmedgenet-2014-102611DOI Listing
October 2014

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

Proc Natl Acad Sci U S A 2014 Oct 6;111(42):E4494-503. Epub 2014 Oct 6.

Institut National de la Santé et de la Recherche Médicale, U1048, F-31432 Toulouse, France; Institut des Maladies Métaboliques et Cardiovasculaires, Université de Toulouse, Université Paul Sabatier, F-31432 Toulouse, France;

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http://dx.doi.org/10.1073/pnas.1406107111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210352PMC
October 2014

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

Blood 2014 Mar 23;123(11):1691-8. Epub 2013 Dec 23.

Department of Pediatric Oncology, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands;

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http://dx.doi.org/10.1182/blood-2013-06-509794DOI Listing
March 2014

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

Blood 2014 Mar;123(12):1960-3

INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris, France Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.

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http://dx.doi.org/10.1182/blood-2014-01-548958DOI Listing
March 2014

[Juvenile myelomonocytic leukemias].

Bull Cancer 2014 Mar;101(3):302-13

CHU Robert-Debré, APHP, Département de génétique, 48, boulevard Sérurier, 75019 Paris, France, Inserm UMR1131, Institut universitaire d'hématologie, Université Paris-Diderot, Hôpital Saint-Louis, 1, avenue Claude-Vellefaux, 75010 Paris, France.

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http://dx.doi.org/10.1684/bdc.2014.1908DOI Listing
March 2014

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

Semin Arthritis Rheum 2013 Oct 17;43(2):217-9. Epub 2013 Jun 17.

Department of Pediatric Immunology and Rheumatology, Necker enfants malades Hospital, Paris, France; INSERM U768, France; Imagine fundation, France. Electronic address:

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http://dx.doi.org/10.1016/j.semarthrit.2013.04.009DOI Listing
October 2013

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

Am J Med Genet A 2012 Oct 7;158A(10):2407-11. Epub 2012 Aug 7.

Department of Genetics, AP-HP-Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35513DOI Listing
October 2012

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

Am J Med Genet A 2012 Jun 23;158A(6):1406-10. Epub 2012 Apr 23.

Centre de Référence Syndromes Malformatifs et Anomalies du Développement, Service de Médecine Infantile III et Génétique Clinique, CHU de Nancy et PRES de l'Université de Lorraine, UHP, Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.35329DOI Listing
June 2012

Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.

Br J Haematol 2010 Dec 19;151(5):460-8. Epub 2010 Oct 19.

Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique; Université Paris 7-Denis Diderot, Paris, France.

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http://dx.doi.org/10.1111/j.1365-2141.2010.08393.xDOI Listing
December 2010

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

Am J Med Genet A 2010 Nov;152A(11):2850-3

Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.1002/ajmg.a.33685DOI Listing
November 2010

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

Eur J Hum Genet 2009 Oct 8;17(10):1216-21. Epub 2009 Apr 8.

Service de Médecine Infantile III et Génétique Clinique, Hôpital d'Enfants CHU de Nancy, Faculté de Médecine Nancy Université Henri Poincaré, Vandoeuvre, France.

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http://dx.doi.org/10.1038/ejhg.2009.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986637PMC
October 2009

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

Authors:
Hélène Cave

Hum Genet 2008 Jun;123(5):551

Hôpital Robert Debré, Service de Biochimie Génétique, Bd Sérurier, 48, 75019, Paris, France.

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June 2008

Neonatal hyperglycaemia and abnormal development of the pancreas.

Best Pract Res Clin Endocrinol Metab 2008 Feb;22(1):17-40

Clinique des Maladies du Développement, Unité d'Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.beem.2007.08.003DOI Listing
February 2008

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

Authors:
Hélène Cave

Hum Genet 2008 Feb;123(1):107-8

Hôpital Robert Debré, Service de Biochimie Génétique, Bd sérurier, 48, 75019 Paris, France.

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February 2008

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

Authors:
Hélène Cave

Hum Genet 2008 Feb;123(1):108

Hôpital Robert Debré, Service de Biochimie Génétique, Bd sérurier, 48, 75019 Paris, France.

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February 2008

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

Authors:
Hélène Cave

Hum Genet 2008 Feb;123(1):108-9

Hôpital Robert Debré, Service de Biochimie Génétique, Bd sérurier, 48, 75019 Paris, France.

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February 2008

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

Endocr Dev 2007 ;12:86-98

Clinique des Maladies du Développement, Unité d'Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Hôpital Necker-Enfants Malades, France.

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https://www.karger.com/Article/FullText/109636
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http://dx.doi.org/10.1159/000109636DOI Listing
December 2007

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

J Autism Dev Disord 2007 Sep 28;37(8):1585-91. Epub 2006 Sep 28.

Département de Psychiatrie de l'Enfant et de l'Adolescent, Université Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpétrière, AP-HP, 47 bd de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1007/s10803-006-0228-5DOI Listing
September 2007

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Diabetes 2007 Jun 27;56(6):1737-41. Epub 2007 Mar 27.

Centre National de la Recherche Scientifique, UMR8090, Institute of Biology, Pasteur Institute, Lille, France.

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http://dx.doi.org/10.2337/db06-1540DOI Listing
June 2007

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

Pediatrics 2007 Jun 21;119(6):e1325-31. Epub 2007 May 21.

Department of Medical Genetics, AP-HP Robert Debré University Hospital, Paris, France.

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http://dx.doi.org/10.1542/peds.2006-0211DOI Listing
June 2007

Neonatal diabetes mellitus: a disease linked to multiple mechanisms.

Orphanet J Rare Dis 2007 Mar 9;2:12. Epub 2007 Mar 9.

Faculty of medicine Paris René Descartes, Paediatric endocrinology and INSERM U845, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-2-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1847805PMC
March 2007

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

N Engl J Med 2006 Aug;355(5):456-66

Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, USA.

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http://dx.doi.org/10.1056/NEJMoa055068DOI Listing
August 2006