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Items: 1 to 50 of 66

1.

Response to Letter to the Editor.

Gorlier C, Sellam J, Laurans L, Simon T, Giurgea I, Bastard JP, Fellahi S, Deshayes S, Grateau G, Oufella HA, Georgin-Lavialle S.

Innate Immun. 2020 Apr;26(3):232-233. doi: 10.1177/1753425920908681. No abstract available.

PMID:
32223386
2.

Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: Report on two Northern European Caucasians relatives in France.

Elhani I, Dumont A, Deshayes S, Georgin-Lavialle S, Giurgea I, Aouba A.

Joint Bone Spine. 2020 Jan 30. pii: S1297-319X(20)30008-7. doi: 10.1016/j.jbspin.2020.01.005. [Epub ahead of print]

PMID:
32007646
3.

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

Louvrier C, Assrawi E, El Khouri E, Melki I, Copin B, Bourrat E, Lachaume N, Cador-Rousseau B, Duquesnoy P, Piterboth W, Awad F, Jumeau C, Legendre M, Grateau G, Georgin-Lavialle S, Karabina SA, Amselem S, Giurgea I.

J Allergy Clin Immunol. 2019 Dec 6. pii: S0091-6749(19)31628-8. doi: 10.1016/j.jaci.2019.11.035. [Epub ahead of print]

PMID:
31816408
4.

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

Awad F, Assrawi E, Jumeau C, Odent S, Despert V, Cam G, Perdriger A, Louvrier C, Cobret L, Copin B, Chantot-Bastaraud S, Duquesnoy P, Piterboth W, Le Jeunne C, Quenum-Miraillet G, Siffroi JP, Georgin-Lavialle S, Grateau G, Legendre M, Giurgea I, Karabina SA, Amselem S.

ACR Open Rheumatol. 2019 Jun 6;1(4):267-276. doi: 10.1002/acr2.1039. eCollection 2019 Jun.

5.

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

Assrawi E, Louvrier C, Lepelletier C, Georgin-Lavialle S, Bouaziz JD, Awad F, Moinet F, Moguelet P, Vignon-Pennamen MD, Piterboth W, Jumeau C, Cobret L, El Khouri E, Copin B, Duquesnoy P, Legendre M, Grateau G, Karabina SA, Amselem S, Giurgea I.

J Invest Dermatol. 2020 Apr;140(4):791-798.e2. doi: 10.1016/j.jid.2019.06.153. Epub 2019 Sep 9.

PMID:
31513803
6.

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

Gorlier C, Sellam J, Laurans L, Simon T, Giurgea I, Bastard JP, Fellahi S, Deshayes S, Grateau G, Ait Oufella H, Georgin-Lavialle S.

Innate Immun. 2019 Nov;25(8):487-490. doi: 10.1177/1753425919870847. Epub 2019 Aug 31. No abstract available.

7.

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

Deshayes S, Fellahi S, Bastard JP, Launay JM, Callebert J, Fraisse T, Buob D, Boffa JJ, Giurgea I, Dupont C, Jegou S, Straube M, Karras A, Aouba A, Grateau G, Sokol H, Georgin-Lavialle S; AA Amyloidosis Study Group; AA amyloidosis Study Group.

Ann Rheum Dis. 2019 Oct;78(10):1398-1404. doi: 10.1136/annrheumdis-2019-215258. Epub 2019 Aug 3.

PMID:
31377728
8.

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

Jumeau C, Awad F, Assrawi E, Cobret L, Duquesnoy P, Giurgea I, Valeyre D, Grateau G, Amselem S, Bernaudin JF, Karabina SA.

PLoS One. 2019 May 17;14(5):e0217005. doi: 10.1371/journal.pone.0217005. eCollection 2019.

9.

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

Terré A, Talbot A, Louvrier C, Picque JB, Mahévas M, Boutboul D, Amselem S, Giurgea I, Grateau G, Georgin-Lavialle S; French Network of Dysimmune Disorders Associated with Hemopathies.

J Rheumatol. 2019 Nov;46(11):1535-1539. doi: 10.3899/jrheum.181204. Epub 2019 Mar 15.

PMID:
30877203
10.

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

Blanluet M, Masliah-Planchon J, Giurgea I, Bielle F, Girard E, Andrianteranagna M, Clemenceau S, Bourneix C, Burglen L, Doummar D, Rapinat A, Oumoussa BM, Ayrault O, Pouponnot C, Gentien D, Pierron G, Delattre O, Doz F, Bourdeaut F.

Acta Neuropathol. 2019 Apr;137(4):675-678. doi: 10.1007/s00401-019-01983-4. Epub 2019 Mar 8. No abstract available.

PMID:
30848346
11.

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC.

Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Review.

PMID:
30677142
12.

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.

Mietton L, Lebrun N, Giurgea I, Goldenberg A, Saintpierre B, Hamroune J, Afenjar A, Billuart P, Bienvenu T.

Neuromolecular Med. 2018 Sep;20(3):409-417. doi: 10.1007/s12017-018-8502-1. Epub 2018 Jul 16.

PMID:
30014449
13.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study, Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N.

Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4.

14.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Geneviève D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze JF, Mandel JL, Gerard B, Giurgea I.

Eur J Hum Genet. 2018 Jul;26(7):996-1006. doi: 10.1038/s41431-018-0096-4. Epub 2018 Apr 26.

15.

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

Awad F, Assrawi E, Louvrier C, Jumeau C, Giurgea I, Amselem S, Karabina SA.

Mech Ageing Dev. 2018 Jun;172:131-137. doi: 10.1016/j.mad.2018.03.003. Epub 2018 Mar 12. Review.

PMID:
29545203
16.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.

Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.

PMID:
29511999
17.

Inflammasome biology, molecular pathology and therapeutic implications.

Awad F, Assrawi E, Louvrier C, Jumeau C, Georgin-Lavialle S, Grateau G, Amselem S, Giurgea I, Karabina SA.

Pharmacol Ther. 2018 Jul;187:133-149. doi: 10.1016/j.pharmthera.2018.02.011. Epub 2018 Feb 18. Review.

PMID:
29466702
18.

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

Lebrun N, Giurgea I, Goldenberg A, Dieux A, Afenjar A, Ghoumid J, Diebold B, Mietton L, Briand-Suleau A, Billuart P, Bienvenu T.

Eur J Hum Genet. 2018 Jan;26(1):107-116. doi: 10.1038/s41431-017-0033-y. Epub 2017 Dec 4.

19.

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

Awad F, Assrawi E, Jumeau C, Georgin-Lavialle S, Cobret L, Duquesnoy P, Piterboth W, Thomas L, Stankovic-Stojanovic K, Louvrier C, Giurgea I, Grateau G, Amselem S, Karabina SA.

PLoS One. 2017 Apr 12;12(4):e0175336. doi: 10.1371/journal.pone.0175336. eCollection 2017.

20.

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

Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM Jr.

Eur J Med Genet. 2016 Feb;59(2):70-4. doi: 10.1016/j.ejmg.2015.12.006. Epub 2015 Dec 22.

PMID:
26721324
21.

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine PO, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh SE, Huet F, Bron A, Creuzot-Garcher C, Lyonnet S, Faivre L.

Am J Med Genet A. 2015 Jul;167(7):1587-92. doi: 10.1002/ajmg.a.36898. Epub 2015 Apr 21.

PMID:
25899569
22.

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

Paz JA, Kim CA, Goossens M, Giurgea I, Marques-Dias MJ.

Arq Neuropsiquiatr. 2015 Jan;73(1):12-7. doi: 10.1590/0004-282X20140182. Epub 2015 Jan 1.

23.

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

Briand-Suleau A, Martinovic J, Tosca L, Tou B, Brisset S, Bouligand J, Delattre V, Giurgea I, Bachir J, Folliot P, Goumy C, Francannet C, Guiochon-Mantel A, Benachi A, Vermeesch J, Tachdjian G, Vago P, Goossens M, Métay C.

Eur J Med Genet. 2014 Mar;57(4):174-80. doi: 10.1016/j.ejmg.2013.12.013. Epub 2014 Jan 29.

24.

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I.

Hum Mol Genet. 2013 Jul 1;22(13):2652-61. doi: 10.1093/hmg/ddt114. Epub 2013 Mar 5.

PMID:
23466526
25.

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

Drévillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M, Giurgea I.

Hum Mol Genet. 2013 Jun 15;22(12):2387-99. doi: 10.1093/hmg/ddt083. Epub 2013 Feb 19.

PMID:
23427148
26.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P.

Eur J Hum Genet. 2013 Dec;21(12):1457-61. doi: 10.1038/ejhg.2013.22. Epub 2013 Feb 20.

27.

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I.

Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23.

PMID:
22045651
28.

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.

Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E.

J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23.

29.

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Wentzel C, Rajcan-Separovic E, Ruivenkamp CA, Chantot-Bastaraud S, Metay C, Andrieux J, Annerén G, Gijsbers AC, Druart L, Hyon C, Portnoi MF, Stattin EL, Vincent-Delorme C, Kant SG, Steinraths M, Marlin S, Giurgea I, Thuresson AC.

Eur J Hum Genet. 2011 Sep;19(9):959-64. doi: 10.1038/ejhg.2011.71. Epub 2011 Apr 27.

30.

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

de Becdelièvre A, Costa C, Jouannic JM, LeFloch A, Giurgea I, Martin J, Médina R, Boissier B, Gameiro C, Muller F, Goossens M, Alberti C, Girodon E.

Hum Genet. 2011 Apr;129(4):387-96. doi: 10.1007/s00439-010-0933-1. Epub 2010 Dec 24.

PMID:
21184098
31.

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.

Coulet F, Pires F, Rouleau E, Lefol C, Martin S, Colas C, Cohen-Haguenauer O, Giurgea I, Fajac A, Noguès C, Demange L, Hardouin A, Lidereau R, Soubrier F.

Genet Test Mol Biomarkers. 2010 Oct;14(5):677-90. doi: 10.1089/gtmb.2009.0183. Epub 2010 Sep 21.

PMID:
20858050
32.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G.

Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15.

33.

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

González-Barroso MM, Giurgea I, Bouillaud F, Anedda A, Bellanné-Chantelot C, Hubert L, de Keyzer Y, de Lonlay P, Ricquier D.

PLoS One. 2008;3(12):e3850. doi: 10.1371/journal.pone.0003850. Epub 2008 Dec 9.

34.

TCF4 deletions in Pitt-Hopkins Syndrome.

Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, Philip N, Sarda P, Villard L, Goossens M, Moncla A.

Hum Mutat. 2008 Nov;29(11):E242-51. doi: 10.1002/humu.20859.

PMID:
18781613
35.

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V.

Am J Hum Genet. 2007 Dec;81(6):1169-85. Epub 2007 Oct 22.

36.

Mowat-Wilson syndrome in a Moroccan consanguineous family.

Ratbi I, Elalaoui CS, Dastot-Le MF, Goossens M, Giurgea I, Sefiani A.

Indian J Hum Genet. 2007 Sep;13(3):122-4. doi: 10.4103/0971-6866.38988.

37.

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rötig A.

J Clin Invest. 2007 Mar;117(3):765-72.

38.

Neonatal hyperinsulinism: clinicopathologic correlation.

Delonlay P, Simon A, Galmiche-Rolland L, Giurgea I, Verkarre V, Aigrain Y, Santiago-Ribeiro MJ, Polak M, Robert JJ, Bellanne-Chantelot C, Brunelle F, Nihoul-Fekete C, Jaubert F.

Hum Pathol. 2007 Mar;38(3):387-99. Review.

PMID:
17303499
39.

Molecular mechanisms of neonatal hyperinsulinism.

Giurgea I, Bellanné-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P.

Horm Res. 2006;66(6):289-96. Epub 2006 Sep 26. Review.

40.

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

Giurgea I, Sempoux C, Bellanné-Chantelot C, Ribeiro M, Hubert L, Boddaert N, Saudubray JM, Robert JJ, Brunelle F, Rahier J, Jaubert F, Nihoul-Fékété C, de Lonlay P.

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

PMID:
16882742
41.

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

Titomanlio L, Giurgea I, Baumann C, Elmaleh M, Sachs P, Chalard F, Aboura A, Verloes A.

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

42.

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.

Bouchet C, Steffann J, Corcos J, Monnot S, Paquis V, Rötig A, Lebon S, Levy P, Royer G, Giurgea I, Gigarel N, Benachi A, Dumez Y, Munnich A, Bonnefont JP.

J Med Genet. 2006 Oct;43(10):788-92. Epub 2006 May 11.

43.

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.

Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P.

Dev Med Child Neurol. 2006 Mar;48(3):227-30.

44.

Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.

de Lonlay P, Simon-Carre A, Ribeiro MJ, Boddaert N, Giurgea I, Laborde K, Bellanné-Chantelot C, Verkarre V, Polak M, Rahier J, Syrota A, Seidenwurm D, Nihoul-Fékété C, Robert JJ, Brunelle F, Jaubert F.

J Clin Endocrinol Metab. 2006 Mar;91(3):933-40. Epub 2006 Jan 10.

PMID:
16403819
45.

Acute pancreatitis in paediatric systemic lupus erythematosus.

Perrin L, Giurgea I, Baudet-Bonneville V, Deschênes G, Bensman A, Ulinski T.

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

PMID:
16373310
46.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity.

Ulinski T, Perrin L, Morris M, Houang M, Cabrol S, Grapin C, Chabbert-Buffet N, Bensman A, Deschênes G, Giurgea I.

J Clin Endocrinol Metab. 2006 Jan;91(1):192-5. Epub 2005 Nov 1.

PMID:
16263818
47.

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.

Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rötig A.

Mol Genet Metab. 2005 Dec;86(4):462-5. Epub 2005 Nov 2.

PMID:
16263314
48.

[Congenital hyperinsulinism in newborn and infant].

Giurgea I, Ribeiro MJ, Boddaert N, Touati G, Robert JJ, Saudubray JM, Jaubert F, Bellanné-Chantelot C, Brunelle F, Nihoul-Fékété C, de Lonlay P.

Arch Pediatr. 2005 Nov;12(11):1628-35. Epub 2005 Sep 28. Review. French.

PMID:
16198094
49.

Congenital hyperinsulinism and mosaic abnormalities of the ploidy.

Giurgea I, Sanlaville D, Fournet JC, Sempoux C, Bellanné-Chantelot C, Touati G, Hubert L, Groos MS, Brunelle F, Rahier J, Henquin JC, Dunne MJ, Jaubert F, Robert JJ, Nihoul-Fékété C, Vekemans M, Junien C, de Lonlay P.

J Med Genet. 2006 Mar;43(3):248-54. Epub 2005 Jul 20.

50.

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

Giurgea I, Ulinski T, Touati G, Sempoux C, Mochel F, Brunelle F, Saudubray JM, Fekete C, de Lonlay P.

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

PMID:
15995015

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