Irina Giurgea

Irina Giurgea

UNVERIFIED PROFILE

Are you Irina Giurgea?   Register this Author

Register author
Irina Giurgea

Irina Giurgea

Publications by authors named "Irina Giurgea"

Are you Irina Giurgea?   Register this Author

45Publications

1223Reads

48Profile Views

In familial Mediterranean fever, soluble TREM-1 plasma level is higher in case of amyloidosis.

Innate Immun 2019 Nov 31;25(8):487-490. Epub 2019 Aug 31.

Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), AP-HP, Hôpital Tenon, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1753425919870847DOI Listing
November 2019

Specific changes in faecal microbiota are associated with familial Mediterranean fever.

Ann Rheum Dis 2019 Oct 3;78(10):1398-1404. Epub 2019 Aug 3.

Service de Médecine Interne, Centre de référence des maladies auto-inflammatoires et des amyloses inflammatoires (CEREMAIA), Sorbonne Université, Assistance Publique des Hôpitaux de Paris, Hôpital Tenon, Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/annrheumdis-2019-215258DOI Listing
October 2019

Somatic mosaic NLRP3 mutations and inflammasome activation in late-onset chronic urticaria.

J Invest Dermatol 2019 Sep 9. Epub 2019 Sep 9.

Sorbonne Université, INSERM, Hôpital Trousseau, Maladies génétiques d'expression pédiatrique, Paris, 75012, France; Unité Fonctionnelle de génétique moléculaire, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris, 75012, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2019.06.153DOI Listing
September 2019

Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.

PLoS One 2019 17;14(5):e0217005. Epub 2019 May 17.

Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicale, Paris, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0217005PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524798PMC
May 2019

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation.

Acta Neuropathol 2019 Apr 8;137(4):675-678. Epub 2019 Mar 8.

Pediatric Oncology Department, SIREDO Oncology Centre (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Oncology), Institut Curie, 26, rue d'Ulm, 75248, Paris Cedex 05, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-019-01983-4DOI Listing
April 2019

Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?

J Rheumatol 2019 Mar 15. Epub 2019 Mar 15.

From the Sorbonne Université, AP-HP, Hôpital Tenon, Service de Médecine Interne, Centre de Référence des Maladies Auto-inflammatoires et des Amyloses d'Origine Inflammatoire (CEREMAIA); Service d'Immuno-hélatologie, Hôpital St. Louis; INSERM UMRS-933, et Laboratoire de Génétique, Hôpital Trousseau, AP-HP, Faculté de Médecine, Sorbonne Université, Paris; Service de Médecine Interne, Centre Hospitalier d'Auxerre, Auxerre; Service de Médecine Interne, Centre Hospitalier Universitaire (CHU) Henri Mondor; and Service d'Immunologie Clinique, Hôpital St. Louis, Paris, France. A. Terré, MD, Sorbonne Université, AP-HP, Hôpital Tenon, Service de Médecine Interne, CEREMAIA; A. Talbot, MD, Service d'Immunohélatologie, Hôpital St. Louis; C. Louvrier, PharmD, INSERM UMRS-933, et Laboratoire de Génétique, Hôpital Trousseau, AP-HP, Faculté de Médecine, Sorbonne Université; J.B. Picque, MD, Service de Médecine Interne, Centre Hospitalier d'Auxerre; M. Mahévas, MD, Service de Médecine Interne, CHU Henri Mondor; D. Boutboul, MD, Service d'Immunologie Clinique, Hôpital St. Louis; S. Amselem, MD, PhD, INSERM UMRS-933, et Laboratoire de Génétique, Hôpital Trousseau, AP-HP, Faculté de Médecine, Sorbonne Université; I. Giurgea, MD, PhD, INSERM UMRS-933, et Laboratoire de Génétique, Hôpital Trousseau, AP-HP, Faculté de Médecine, Sorbonne Université; G. Grateau, MD, PhD, Sorbonne Université, AP-HP, Hôpital Tenon, Service de Médecine Interne, CEREMAIA, and INSERM UMRS-933, et Laboratoire de Génétique, Hôpital Trousseau, AP-HP, Faculté de Médecine, Sorbonne Université; S. Georgin-Lavialle, MD, PhD, Sorbonne Université, AP-HP, Hôpital Tenon, Service de Médecine Interne, CEREMAIA, and INSERM UMRS-933, et Laboratoire de Génétique, Hôpital Trousseau, AP-HP, Faculté de Médecine, Sorbonne Université. Address correspondence to Dr. S. Georgin-Lavialle, Internal Medicine Unit, Tenon Hospital, 20 rue de la Chine, 75020 Paris, France. E-mail: Accepted for publication February 15, 2019.

View Article

Download full-text PDF

Source
http://www.jrheum.org/lookup/doi/10.3899/jrheum.181204
Publisher Site
http://dx.doi.org/10.3899/jrheum.181204DOI Listing
March 2019

Inflammasome biology, molecular pathology and therapeutic implications.

Pharmacol Ther 2018 07 18;187:133-149. Epub 2018 Feb 18.

Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Département de Génétique médicale, Hôpital Trousseau, Paris, F-75012, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01637258183003
Publisher Site
http://dx.doi.org/10.1016/j.pharmthera.2018.02.011DOI Listing
July 2018

Photoaging and skin cancer: Is the inflammasome the missing link?

Mech Ageing Dev 2018 06 12;172:131-137. Epub 2018 Mar 12.

Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Département de Génétique médicale, Paris, F-75012, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mad.2018.03.003DOI Listing
June 2018

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation.

PLoS One 2017 12;12(4):e0175336. Epub 2017 Apr 12.

Sorbonne Université, UPMC Univ Paris 06, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicales, Paris, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0175336PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389804PMC
April 2017

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Eur J Med Genet 2016 Feb 22;59(2):70-4. Epub 2015 Dec 22.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.12.006DOI Listing
February 2016

Mowat-Wilson syndrome: neurological and molecular study in seven patients.

Arq Neuropsiquiatr 2015 Jan 1;73(1):12-7. Epub 2015 Jan 1.

Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/0004-282X20140182DOI Listing
January 2015

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Eur J Hum Genet 2013 Dec 20;21(12):1457-61. Epub 2013 Feb 20.

Laboratoire de Génétique, EA 4368, Université de Lorraine, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg201322
Publisher Site
http://dx.doi.org/10.1038/ejhg.2013.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831065PMC
December 2013

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

Hum Genet 2011 Apr 24;129(4):387-96. Epub 2010 Dec 24.

Service de Biochimie-Génétique, APHP, Groupe Hospitalier Henri Mondor-Albert Chenevier, UF de Génétique, Créteil, 94010, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-010-0933-1DOI Listing
April 2011

A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

Genet Test Mol Biomarkers 2010 Oct 21;14(5):677-90. Epub 2010 Sep 21.

Laboratoire d'Oncogénétique et Angiogénétique moléculaire, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hopitaux de Paris, Université Pierre et Marie Curie, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2009.0183DOI Listing
October 2010

Mowat-Wilson syndrome in a Moroccan consanguineous family.

Indian J Hum Genet 2007 Sep;13(3):122-4

Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, Rabat, Morocco.

View Article

Download full-text PDF

Source
http://www.ijhg.com/text.asp?2007/13/3/122/38988
Publisher Site
http://dx.doi.org/10.4103/0971-6866.38988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168139PMC
September 2007

The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.

J Clin Endocrinol Metab 2006 Oct 1;91(10):4118-23. Epub 2006 Aug 1.

INSERM U654, and Department of Genetics, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Creteil Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2006-0397DOI Listing
October 2006

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Eur J Hum Genet 2006 Aug 17;14(8):971-4. Epub 2006 May 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201635DOI Listing
August 2006

Acute pancreatitis in paediatric systemic lupus erythematosus.

Acta Paediatr 2006 Jan;95(1):121-4

Department of Paediatric Nephrology, Hôpital Trousseau, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08035250500325090DOI Listing
January 2006

Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy.

Pediatrics 2005 Jul;116(1):e145-8

Department of Metabolic Disorders, Hôpital Necker Enfants Malades, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2004-2331DOI Listing
July 2005

Respiratory chain defects may present only with hypoglycemia.

J Clin Endocrinol Metab 2005 Jun 22;90(6):3780-5. Epub 2005 Mar 22.

Service des Maladies Métaboliques, Hôpital Necker Enfants-Malades, 149 rue de Sèvres, Paris 75015, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2005-0009DOI Listing
June 2005

Underdiagnosis of mild congenital disorders of glycosylation type Ia.

Pediatr Neurol 2005 Feb;32(2):121-3

Department of Pediatrics and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S088789940400390
Publisher Site
http://dx.doi.org/10.1016/j.pediatrneurol.2004.06.021DOI Listing
February 2005

Neonatal hypoglycaemia: aetiologies.

Semin Neonatol 2004 Feb;9(1):49-58

Department of Paediatrics, Hôpital Necker -- Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.siny.2003.08.002DOI Listing
February 2004