FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Irina Giurgea

Research Profile

Disorders

Living Beings

Physiology

Mutation

Chemicals & Drugs

Procedures

DNA Mutational Analysis

Concepts & Ideas

Genes & Molecular Sequences

Co-author Network

Publications

TOP 3
Christian Wentzel; Catherine Vincent-Delorme; Joris Andrieux; Göran Annerén; Sandra Chantot-Bastaraud; Luc Druart; Antoinet C J Gijsbers; Irina Giurgea; Capucine Hyon; Sarina G Kant; Sandrine Marlin; Corinne Metay; Marie-France Portnoi; Evica Rajcan-Separovic; Claudia Ruivenkamp; Eva-Lena Stattin; Michelle Steinraths; Ann-Charlotte Thuresson
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Irina Giurgea; Chantal Missirian; Pierre Cacciagli; Sandra Whalen; Tessa Fredriksen; Thierry Gaillon; Julia Rankin; Michele Mathieu-Dramard; Gilles Morin; Dominique Martin-Coignard; Christèle Dubourg; Brigitte Chabrol; Jacqueline Arfi; Fabienne Giuliano; Jean Claude Lambert; Nicole Philip; Pierre Sarda; Laurent Villard; Michel Goossens; Anne Moncla
TCF4 deletions in Pitt-Hopkins Syndrome.
M Mar González-Barroso; Irina Giurgea; Frederic Bouillaud; Andrea Anedda; Christine Bellanné-Chantelot; Laurence Hubert; Yves de Keyzer; Pascale de Lonlay; Daniel Ricquier
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Irina Giurgea (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2011: Christian Wentzel; Catherine Vincent-Delorme; Joris Andrieux; Göran Annerén; Sandra Chantot-Bastaraud; Luc Druart; Antoinet C J Gijsbers; Irina Giurgea; Capucine Hyon; Sarina G Kant; Sandrine Marlin; Corinne Metay; Marie-France Portnoi; Evica Rajcan-Separovic; Claudia Ruivenkamp; Eva-Lena Stattin; Michelle Steinraths; Ann-Charlotte Thuresson
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
European journal of human genetics : EJHG 2011;19(9):959-64.
2008: Irina Giurgea; Chantal Missirian; Pierre Cacciagli; Sandra Whalen; Tessa Fredriksen; Thierry Gaillon; Julia Rankin; Michele Mathieu-Dramard; Gilles Morin; Dominique Martin-Coignard; Christèle Dubourg; Brigitte Chabrol; Jacqueline Arfi; Fabienne Giuliano; Jean Claude Lambert; Nicole Philip; Pierre Sarda; Laurent Villard; Michel Goossens; Anne Moncla
TCF4 deletions in Pitt-Hopkins Syndrome.
Human mutation 2008;29(11):E242-51.
2008: M Mar González-Barroso; Irina Giurgea; Frederic Bouillaud; Andrea Anedda; Christine Bellanné-Chantelot; Laurence Hubert; Yves de Keyzer; Pascale de Lonlay; Daniel Ricquier
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.
PloS one 2008;3(12):e3850.
2007: Nadege Bondurand; Florence Dastot-Le Moal; Laure Stanchina; Nathalie Collot; Viviane Baral; Sandrine Marlin; Tania Attie-Bitach; Irina Giurgea; Laurent Skopinski; William Reardon; Annick Toutain; Pierre Sarda; Anis Echaieb; Marilyn Lackmy-Port-Lis; Renaud Touraine; Jeanne Amiel; Michel Goossens; Veronique Pingault
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
American journal of human genetics 2007;81(6):1169-85.
2007: Julie Mollet; Irina Giurgea; Dimitri Schlemmer; Gustav Dallner; Dominique Chretien; Agnès Delahodde; Delphine Bacq; Pascale de Lonlay; Arnold Munnich; Agnès Rötig
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
The Journal of clinical investigation 2007;117(3):765-72.
2007: Pascale DeLonlay; A Simon; L Galmiche-Rolland; Irina Giurgea; Virginie Verkarre; Y Aigrain; M-J Santiago-Ribeiro; M Polak; Jean-Jacques Robert; C Bellanne-Chantelot; Francis Brunelle; Claire Nihoul-Fekete; Francis Jaubert
Neonatal hyperinsulinism: clinicopathologic correlation.
Human pathology 2007;38(3):387-99.
2006: Irina Giurgea; Christine Sempoux; Christine Bellanné-Chantelot; Maria Ribeiro; Laurence Hubert; Nathalie Boddaert; Jean-Marie Saudubray; Jean-Jacques Robert; Francis Brunelle; Jacques Rahier; Francis Jaubert; Claire Nihoul-Fékété; Pascale de Lonlay
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2006;91(10):4118-23.
2006: C Bouchet; Julie Steffann; Johanna Corcos; S Monnot; V Paquis; Agnès Rötig; Sophie Lebon; P Levy; Ghislaine Royer; Irina Giurgea; Nadine Gigarel; alexandra benachi; Yves Dumez; Arnold Munnich; Jean-Paul Bonnefont
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
Journal of medical genetics 2006;43(10):788-92.
2006: Luigi Titomanlio; Irina Giurgea; Clarisse Baumann; Monique Elmaleh; Philippe Sachs; François Chalard; Azzedine Aboura; Alain Verloes
A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.
European journal of human genetics : EJHG 2006;14(8):971-4.
2006: Christine Barnérias; Irina Giurgea; Lucie Hertz-Pannier; Nadia Bahi-Buisson; Nathalie Boddaert; Pierre Rustin; Agnés Rotig; Isabelle Desguerre; Arnold Munnich; Pascale de Lonlay
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Developmental medicine and child neurology 2006;48(3):227-30.
2006: Pascale de Lonlay; Aurore Simon-Carre; Maria-João Ribeiro; Nathalie Boddaert; Irina Giurgea; Kathleen Laborde; Christine Bellanné-Chantelot; Virginie Verkarre; Michel Polak; Jacques Rahier; André Syrota; David J Seidenwurm; Claire Nihoul-Fékété; Jean-Jacques Robert; Francis Brunelle; Francis Jaubert
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.
The Journal of clinical endocrinology and metabolism 2006;91(3):933-40.
2006: Irina Giurgea; D Sanlaville; J-C Fournet; Christine Sempoux; Christine Bellanné-Chantelot; Guy Touati; Laurence Hubert; M-S Groos; Francis Brunelle; Jacques Rahier; J-C Henquin; Mark J Dunne; Francis Jaubert; Jean-Jacques Robert; Claire Nihoul-Fékété; M Vekemans; Claudine Junien; Pascale de Lonlay
Congenital hyperinsulinism and mosaic abnormalities of the ploidy.
Journal of medical genetics 2006;43(3):248-54.
2006: Irina Giurgea; Christine Bellanné-Chantelot; Maria Ribeiro; Laurence Hubert; Christine Sempoux; Jean-Jacques Robert; Oliver Blankenstein; Khalid Hussain; Francis Brunelle; Claire Nihoul-Fékété; Jacques Rahier; Francis Jaubert; Pascale de Lonlay
Molecular mechanisms of neonatal hyperinsulinism.
Hormone research 2006;66(6):289-96.
2006: Laurence Perrin; Irina Giurgea; Valérie Baudet-Bonneville; Georges Deschênes; Albert Bensman; Tim Ulinski
Acute pancreatitis in paediatric systemic lupus erythematosus.
Acta paediatrica (Oslo, Norway : 1992) 2006;95(1):121-4.
2006: Tim Ulinski; Laurence Perrin; Michael Morris; Muriel Houang; Sylvie Cabrol; Christine Grapin; Nathalie Chabbert-Buffet; Albert Bensman; Georges Deschênes; Irina Giurgea
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity.
The Journal of clinical endocrinology and metabolism 2006;91(1):192-5.
2005: Abdelhamid Slama; Irina Giurgea; D Debrey; D Bridoux; Pascale de Lonlay; P Levy; Dominique Chretien; Michèle Brivet; Alain Legrand; Pierre Rustin; A Munnich; Agnès Rötig
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
Molecular genetics and metabolism 2005;86(4):462-5.
2005: Irina Giurgea; Maria-João Ribeiro; Nathalie Boddaert; Guy Touati; Jean-Jacques Robert; J-M Saudubray; Francis Jaubert; Christine Bellanné-Chantelot; Francis Brunelle; Claire Nihoul-Fékété; Pascale de Lonlay
[Congenital hyperinsulinism in newborn and infant].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2005;12(11):1628-35.
2005: Irina Giurgea; Tim Ulinski; Guy Touati; Christine Sempoux; Fanny Mochel; Francis Brunelle; Jean-Marie Saudubray; Claire Fekete; Pascale de Lonlay
Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy.
Pediatrics 2005;116(1):e145-8.
2005: Fanny Mochel; Abdelhamid Slama; Guy Touati; Isabelle Desguerre; Irina Giurgea; Daniel Rabier; Michèle Brivet; Pierre Rustin; Jean-Marie Saudubray; Pascale DeLonlay
Respiratory chain defects may present only with hypoglycemia.
The Journal of clinical endocrinology and metabolism 2005;90(6):3780-5.
2005: Irina Giurgea; Anne Michel; Martine Le Merrer; Nathalie Seta; Pascale de Lonlay
Underdiagnosis of mild congenital disorders of glycosylation type Ia.
Pediatric neurology 2005;32(2):121-3.
2005: Pascale de Lonlay; Irina Giurgea; Christine Sempoux; Guy Touati; Francis Jaubert; Jacques Rahier; Maria Ribeiro; Francis Brunelle; Claire Nihoul-Fékété; Jean-Jacques Robert; Jean-Marie Saudubray; Charles Stanley; Christine Bellanné-Chantelot
Dominantly inherited hyperinsulinaemic hypoglycaemia.
Journal of inherited metabolic disease 2005;28(3):267-76.
2004: Pascale de Lonlay; Irina Giurgea; Jean-Jacques Robert; Jean-Christophe Fournet; Guy Touati; Claire Nihoul-Fékété; Francis Brunelle; Francis Jaubert; Jacques Rahier; Christine Sempoux; Claudine Junien; Jean-Marie Saudubray; Mark Dunne; Timo Otonkoski; Maria Ribeiro; Christine Bellané-Chantelot
Hyperinsulinemic hypoglycemia in children.
Annales d'endocrinologie 2004;65(1):96-8.
2004: Pascale de Lonlay; Irina Giurgea; Guy Touati; Jean-Marie Saudubray
Neonatal hypoglycaemia: aetiologies.
Seminars in neonatology : SN 2004;9(1):49-58.
2004: Irina Giurgea; Kathleen Laborde; Guy Touati; Christine Bellanné-Chantelot; Marie-Cécile Nassogne; Christine Sempoux; Francis Jaubert; Nguyen Khoa; Valérie Chigot; Jacques Rahier; Francis Brunelle; Claire Nihoul-Fékété; Mark J Dunne; Charles Stanley; Jean-Marie Saudubray; Jean-Jacques Robert; Pascale de Lonlay
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2004;89(2):925-9.
2004: Paule Bénit; Abdelhamid Slama; F Cartault; Irina Giurgea; Dominique Chretien; Sophie Lebon; Cécile Marsac; Arnold Munnich; Agnès Rötig; Pierre Rustin
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Journal of medical genetics 2004;41(1):14-7.
2003: Sophie Lebon; Marie Chol; Paule Benit; Claude Mugnier; Dominique Chretien; Irina Giurgea; I Kern; E Girardin; Lucie Hertz-Pannier; Pascale de Lonlay; Agnès Rötig; Pierre Rustin; Arnold Munnich
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Journal of medical genetics 2003;40(12):896-9.
2003: Paule Bénit; Réjane Beugnot; Dominique Chretien; Irina Giurgea; Pascale De Lonlay-Debeney; Jean-Paul Issartel; Marisol Corral-Debrinski; Stefan Kerscher; Pierre Rustin; Agnès Rötig; Arnold Munnich
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
Human mutation 2003;21(6):582-6.
2002: Laurence Faivre; Philippe Gosset; Valérie Cormier-Daire; Sylvie Odent; Jeanne Amiel; Irina Giurgea; Marie-Cécile Nassogne; Laurent Pasquier; Arnold Munnich; Serge Romana; Marguerite Prieur; Michel Vekemans; Marie-Christine De Blois; Catherine Turleau
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
European journal of human genetics : EJHG 2002;10(11):699-706.
2000: Irina Giurgea; F Raqbi; C Nihoul-Fékété; Gérard Couly; Véronique Abadie
Congenital microgastria with Pierre Robin sequence and partial trismus.
Clinical dysmorphology 2000;9(4):307-8.