En 1 clic
Déficits hypophysaires (combinés et isolés), génétique et SIT
- Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man. Bando H, Brinkmeier ML, Castinetti F, Fang Q, Lee MS, Saveanu A, Albarel F, Dupuis C, Brue T, Camper SA.Hum Mol Genet. 2023 Jan 13;32(3):367-385. doi: 10.1093/hmg/ddac192.PMID: 35951005
- IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R, Reynaud R, Mougel G, Castets S, Bretones P, Dauriat B, Edouard T, Raverot G, Barlier A, Brue T, Castinetti F, Saveanu A.Eur J Endocrinol. 2022 Nov 3;187(6):787-795. doi: 10.1530/EJE-22-0520. Print 2022 Dec 1.PMID: 36201163
Charnay T, Mougel G, Amouroux C, Gueorguieva I, Joubert F, Pertuit M, Reynaud R, Barlier A, Brue T, Saveanu A.Front Endocrinol (Lausanne). 2023 Feb 15;13:1080649. doi: 10.3389/fendo.2022.1080649. eCollection 2022.
- Yearly Height Gain Is Dependent on the Truly Received Dose of Growth Hormone and the Duration of Periods of Poor Adherence: Practical Lessons From the French Easypod™ Connect Multicenter Observational Study. Coutant R, Nicolino M, Cammas B, de Buyst V, Tauber M, Hamel JF.Front Endocrinol (Lausanne). 2022 Jan 20;12:790169. doi: 10.3389/fendo.2021.790169.
- Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.
Bando H, Brinkmeier ML, Castinetti F, Fang Q, Lee MS, Saveanu A, Albarel F, Dupuis C, Brue T, Camper SA.Hum Mol Genet. 2022 Aug 11:ddac192. doi: 10.1093/hmg/ddac192.
- Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform. Brue T, Camper SA. Eur J Endocrinol. 2021 Nov 26;185(6):C19-C25. doi: 10.1530/EJE-21-0949. PMID: 34597272
- Role of growth hormone in hepatic and intestinal triglyceride-rich lipoprotein metabolism. Maraninchi M, Calabrese A, Nogueira JP, Castinetti F, Mancini J, Mourre F, Piétri L, Bénamo E, Albarel F, Morange I, Dupont-Roussel J, Nicolay A, Brue T, Béliard S, Valéro R.J Clin Lipidol. 2021 Sep-Oct;15(5):712-723. doi: 10.1016/j.jacl.2021.08.003. Epub 2021 Aug 16.PMID: 34462238
- High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15. PMID: 34270938
- The heart in growth hormone (GH) deficiency and the cardiovascular effects of GH. Chanson P. Ann Endocrinol (Paris). 2021 Jun; 82(3-4):210-213. doi: 10.1016/j.ando.2020.03.005. Epub 2020 Mar 4. PMID: 32473787.
- Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort. Jullien N, Saveanu A, Vergier J, Marquant E, Quentien MH, Castinetti F, Galon-Faure N, Brauner R, Marrakchi Turki Z, Tauber M, El Kholy M, Linglart A, Rodien P, Fedala NS, Bergada I, Cortet-Rudelli C, Polak M, Nicolino M, Stuckens C, Barlier A, Brue T, Reynaud R; Genhypopit Network. Clin Endocrinol (Oxf). 2021 Feb;94(2):277-289. doi: 10.1111/cen.14355. Epub 2020 Dec 21. PMID: 33098107
- Sensitivity and specificity of the macimorelin test for diagnosis of AGHD. Garcia JM, Biller BMK, Korbonits M, Popovic V, Luger A, Strasburger CJ, Chanson P, Swerdloff R, Wang C, Fleming RR, Cohen F, Ammer N, Mueller G, Kelepouris N, Strobl F, Ostrow V, Yuen KCJ. Endocr Connect. 2021 Jan; 10(1):76-83. doi: 10.1530/EC-20-0491. PMID: 33320108; PMCID: PMC7923131.
- ESE audit on management of Adult Growth Hormone Deficiency in clinical practice.
Martel-Duguech LM, Jorgensen JOL, Korbonits M, Johannsson G, Webb SM, Amadidou F, Mintziori G, Arosio M, Giavoli C, Badiu C, Boschetti M, Ferone D, Ricci Bitti S, Brue T, Albarel F, Cannavò S, Cotta OR, Carvalho D, Salazar D, Christ E, Debono M, Dusek T, Garcia-Centeno R, Ghigo E, Gasco V, Góth MI, Oláh D, Kovacs L, Höybye C, Kocjan T, Mlekuš Kozamernik K, Kužma M, Payer J, Medic-Stojanoska M, Novak A, Miličević T, Pekic S, Miljic D, Perez Luis J, Pico AM, Preda V, Raverot G, Borson-Chazot F, Rochira V, Monzani ML, Sandahl K, Tsagarakis S, Mitravela V, Zacharieva S, Zilaitiene B, Verkauskiene R.Eur J Endocrinol. 2020 Dec 1:EJE-20-1180.R1. doi: 10.1530/EJE-20-1180. Online ahead of print.PMID: 33320830.
- Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N, Saveanu A, Vergier J, Marquant E, Quentien MH, Castinetti F, Galon-Faure N, Brauner R, Marrakchi Turki Z, Tauber M, El Kholy M, Linglart A, Rodien P, Fedala NS, Bergada I, Cortet-Rudelli C, Polak M, Nicolino M, Stuckens C, Barlier A, Brue T, Reynaud R; Genhypopit Network.Clin Endocrinol (Oxf). 2020 Oct 24. doi: 10.1111/cen.14355. Online ahead of print.PMID: 33098107.
- Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
Castets S, Roucher-Boulez F, Saveanu A, Mallet-Motak D, Chabre O, Amati-Bonneau P, Bonneau D, Girardin C, Morel Y, Villanueva C, Brue T, Reynaud R, Nicolino M.Horm Res Paediatr. 2020;93(1):30-39. doi: 10.1159/000507249. Epub 2020 May 26.PMID: 32454486.
- Diagnosis of endocrine disease: Pituitary stalk interruption syndrome: etiology and clinical manifestations.
Vergier J, Castinetti F, Saveanu A, Girard N, Brue T, Reynaud R. Eur J Endocrinol. 2019 Sep 1.
- Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.
Bajuk Studen K, Stefanija MA, Saveanu A, Barlier A, Brue T, Pfeifer M. Endocrine. 2019 Aug;65(2):379-385.
- Perfectionnement en pédiatrie “Pas à pas 2019”: enfant trop petit.
S.Castets, R.Reynaud. Elsevier Masson. Juin 2019 - Vol. 2 - Supplément 1 - p. S1-S59.
- Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.
Jullien N, Romanet P, Philippon M, Quentien MH, Beck-Peccoz P, Bergada I, Odent S, Reynaud R, Barlier A, Saveanu A, Brue T, Castinetti F. Eur J Hum Genet. 2019 Feb;27(2):216-225.
- Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report.
Lamine F, Kanoun F, Chihaoui M, Saveanu A, Menif E, Barlier A, Enjalbert A, Brue T, Slimane H.
Pituitary. 2012 Dec;15 Suppl 1:81-6.
- Hypothalamo-pituitary sarcoidosis: a multicenter study of 24 patients.
Langrand C, Bihan H, Raverot G, Varron L, Androdias G, Borson-Chazot F, Brue T, Cathebras P, Pinede L, Muller G, Broussolle C, Cotton F, Valeyre D, Seve P.
QJM. 2012 Oct;105(10):981-95.
- Genetic causes of combined pituitary hormone deficiencies in humans.
Castinetti F, Reynaud R, Saveanu A, Barlier A, Brue T.
Ann Endocrinol (Paris). 2012 Apr;73(2):53-5.
- PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM, Simonin G, Lecomte P, Barlier A, Rondard P, Martinez-Barbera JP, Guiochon-Mantel A, BrueT.
J Clin Endocrinol Metab. 2012 Jun;97(6):E1068-73.
- Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
Couture C, Saveanu A, Barlier A, Carel JC, Fassnacht M, Flück CE, Houang M, Maes M, Phan-Hug F, Enjalbert A, Drouin J, Brue T, Vallette S.
J Clin Endocrinol Metab. 2012 Mar;97(3):E486-95.
- Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.
Quentien MH, Delemer B, Papadimitriou DT, Souchon PF, Jaussaud R, Pagnier A, Munzer M, Jullien N, Reynaud R, Galon-Faure N, Enjalbert A, Barlier A, Brue T.
J Clin Endocrinol Metab. 2012 Jan;97(1):E121-8.
- Inactivation of transcription factor pit-1 to target tumoral somatolactotroph cells.
Roche C, Rasolonjanahary R, Thirion S, Goddard I, Fusco A, Figarella-Branger D, Dufour H, Brue T, Franc JL, Enjalbert A, Barlier A.
Hum Gene Ther. 2012 Jan;23(1):104-14.
- Ras and Rap1 govern spatiotemporal dynamic of activated ERK in pituitary living cells.
Zeiller C, Blanchard MP, Pertuit M, Thirion S, Enjalbert A, Barlier A, Gerard C
Cell Signal. 2012 Dec;24(12):2237-48.
- Genetic causes of combined pituitary hormone deficiencies in humans.
Castinetti F, Reynaud R, Saveanu A, Barlier A, Brue T.
Ann Endocrinol (Paris). 2012 Apr;73(2):53-5.
- Somatostatin receptor sst2 gene transfer in human prolactinomas in vitro: impact on sensitivity to dopamine, somatostatin and dopastatin, in the control of prolactin secretion.
Cuny T, Mohamed A, Graillon T, Roche C, Defilles C, Germanetti AL, Couderc B, Figarella-Branger D, Enjalbert A, Barlier A, Saveanu A. Mol
Cell Endocrinol. 2012 May 15;355(1):106-13.
- Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency.
Pham LL, Garot C, Brue T, Brauner R.
Plos One. 2011 Oct;6(10): e26516. Epub 2011 Oct.
- Deficit in anterior pituitary function and variable immunodeficiency (DAVID) in children with adrenocorticotropin deficiency and severe infections.
Quentien MH, Delemer B, Papadimitriou DT, Souchon PF, Jaussaud R, Pagnier A, Munzer M, Jullien N, Reynaud R, Galon-Faure N, Enjalbert A, Barlier A, Brue T.
JCEM, in press
- Inactivation of PITX2 transcription factor induced apoptosis of gonadotroph tumoral cells.
Acunzo J, Roche C, Defilles C, Thirion S, Quentien MH, Figarella-Branger D, Graillon T, Dufour H, Brue T, Pellegrini I, Enjalbert A, Barlier A.
Endocrinology. 2011 Oct; 152(10):3884-92.
- Inactivation of transcription factor Pit-1 to target tumoral somato-lactotroph cells.
Roche C, Rasolonjanahary R, Thirion S, Goddard I, Fusco A, Figarella-Branger D, Dufour H, Brue T, Franc JL, Enjalbert A, Barlier A.
Hum Gene Ther. 2011 Sep 23.
- Pitx2 and Pitx1 regulate thyrotroph function and response to hypothyroidism.
Castinetti F, Brinkmeier M, Gordon DF, Vella K, Kerr JM, Mortensen AH, Hollenberg A, Brue T, Ridgway EC, Camper SA.
Mol. Endocrinol. 2011 sep 29.
- Case seminar: A young female with acute hyponatremia and a sellar mass.
Pekic S., Doknic M., Miljic D., Saveanu A., Reynaud R., Barlier A., Brue T., Popovic V.
Endocrine 2011 aug; 24 [Epub ahead of print]
- Quelles causes génétiques rechercher en présence d'un déficit en hormone de croissance ?
Reynaud R, Castinetti F, Galon -Faure N, Albarel-Loy F, Saveanu A, Quentien MH, Jullien N, Khammar A, Enjalbert A, Barlier A, Brue T.
Arch Pediatr. 2011 jun;18(6):696-706.
- Pituitary stem cell update and potential implications for treating hypopituitarism.
Castinetti F, Davis W, Brue T, Camper SA.
Endocr Rev. 2011, Aug;32(4):453-71.
- Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
Reynaud R*, Albarel F*, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T (co-1st authors).
Eur J Endocrinol. 2011 Apr;164(4):457-65.
- Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.
Nyström HF, Saveanu A, Barbosa EJ, Barlier A, Enjalbert A, Glad C, Palming J, Johannsson G, Brue T.
Pituitary. 2011 Sep;14(3):208-16.
- Truncation of PITX2 differentially affects its activiy on physiological targets.
Quentien MH, Vieira V, Menasche M, Dufier JL, Herman JP, Enjalbert A, Abitbol M, Brue T.
J. Mol. Endocrinol., 2010 Dec 21;46(1):9-19.
- Cooperation between cyclin E and p27Kip1 in pituitary tumorigenesis.
Roussel-Gervais A, Bilodeau S, Vallette S, Berthelet F, Lacroix A, Figarella-Branger D, Brue T, Drouin J.
Mol. Endocrinol., 2010 Sep;24(9):1835-45.
- Comparative validation of the growth hormone releasing hormone and arginine test for the diagnosis of adult growth hormone deficiency using a growth hormone assay conforming to recent international recommendations.
Chanson P., Kuhn J.M., Werhya G., Chabre O., Borson-Chazot F., Rohmer V., Vincent-Dejean C., Brue T., Fedou C., Bresson J.L., Demolis P., Souberbielle J.C.
J. Clin. Endocrinol. Metab. 2010 Aug;95(8): 3684-92.
- Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.
Davis SW, Castinetti F, Carvalho LR, Ellsworth BS, Potok MA, Lyons RH, Brinkmeier ML, Raetzman LT, Carninci P, Mortensen AH, Hayashizaki Y, Arnhold IJ, Mendonça BB, Brue T, Camper SA.
Mol Cell Endocrinol. 2010 Jul 8;323(1):4-19.
- A comparative phenotypic study of Kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 (PROK2) or prokineticin receptor 2 (PROKR2) genes.
Sarfati J., Guiochon-Mantel A., Rondard P., Arnulf I., Garcia-Pineiro A., Wolczynski S., Brailly-Tabard S., Bidet M., Arroyo R., Mathieu M., Lienhardt-Roussie A., Morgan G., Turki Z., Bremont C., Lespinasse J., Du Boullay H., Chabbert-Buffet N., Jacquemont S., Reach G., De Talence N., Tonella P., Conrad B., Despert F., Delobel B., Brue T., Bouvatier C., Cabrol S., Pugeat M., Murat A., Bouchard P., Hardelin J.P., Dodé C.*, Young J.*. (*Co-Auteurs Ex Aequo)
J. Clin. Endocrinol. Metab. 2010 feb;95(2):659-69.
- Treatment for 24 months with recombinant human GH has a beneficial effect on bone mineral density in young adults with childhood-onset GH deficiency.
Conway Gs, Szarras-Czapnik M, Racz K, Keller A, Chanson P, Tauber M, Zacharin M; 1369 Ghd To Ghda Transition Study Group*.
BRUE T. membre du groupe “1369 GHD to GHDA Transition Study Group”
Eur.J. Endocrinol. 2009 Jun;160(6):899-907.
- Congenital pituitary hormone deficiencies: role of LHX3/LHX4 genes.
Castinetti F, Reynaud R, Saveanu A, Quentien MH, Albarel F, Enjalbert A, Barlier A, Brue T.
Expert Rev Endocrinol. Metab. 2008, 3(6):1-7.
- Déficit hypophysaire combiné multiple : aspects cliniques et génétiques.
F. Castinetti,R. Reynaud, A. Saveanu; M.-H. Quentien ,F. Albarel , A. Barlier , A. Enjalbert , T. Brue
Annales d’Endocrinologie (Paris) 2008, 69(1): 7–17
- A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism
Castinetti F, Saveanu A, Reynaud R, Quentien MH, Buffin A, Brauner R, Kaffel N, Albarel F, Guedj AM, El Kholy M, Amin M, Enjalbert A, Barlier A, Brue T.
J Clin Endocrinol Metab. 2008 Jul;93(7):2790-9. Epub 2008 Apr 29.
- Hormone de croissance et petite taille idiopathique.
Castinetti F., Fabre-Brue C., Brue T.
Ann. Endocrinologie (Paris) 2008, 69 suppl. 1:S11-S15.
- Syndrome de Prader-Willi et hormone de croissance.
Castinetti F., Reynaud R., Brue T.
Ann. Endocrinologie (Paris) 2008, 69 suppl. 1:S6-S10.
- Syndrome de Noonan et hormone de croissance.
Castinetti F., Reynaud R., Brue T.
Ann. Endocrinologie (Paris) 2008, 69 suppl. 1:S2-S5.
- Conduite diagnostique à tenir devant un déficit hypophysaire combiné congénital : quel gène pour quel tableau clinique ?
A.Barlier : Médecine Clinique endocrinologie & diabète • n° 29, Juillet-Août 2007
- Adult clinical phenotypes of patients with genetic causes of hypopituitarism.
R Reynaud, F Castinetti, A Saveanu, A Barlier , A Enjalbert and T Brue
Molecular Pathogenesis and Therapy of Pituitary Disease 2007 : 53–62
- Identification and Functional Analysis of the Novel S179R POU1F1 Mutation Associated with Combined Pituitary Hormone Deficiency
Miyata I, Vallette-Kasic S, Saveanu A, Takeuchi M, Yoshikawa H, Tajima A, Tojo K, Reynaud R, Gueydan M, Enjalbert A, Tajima N, Eto Y, Brue T.
J. Clin. Endocrinol. Metab. 2006 Dec;91(12):4981-7.
- Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
Reynaud R, Gueydan M, Saveanu A, Vallette-Kasic S, Enjalbert A, Barlier A, Brue T.
J. Clin. Endocrinol. Metab.2006, 91(9):3329-36.
- Activin inhibits the human Pit-1 gene promoter through the p38 kinase pathway in a Smad-independent manner.
De Guise C, Lacerte A, Rafiei S, Reynaud R, Roy M, Eto Y, Brue T, Lebrun JJ.
Endocrinology, 2006, 147(9):4351-62.
- Etude observationnelle KIMS du traitement par GH des patients adultes ayant un déficit somatotrope : analyse à 12 mois des données françaises.
Brue T., Borson-Chazot F., Delemer B., Schlienger J.L., Chachuat A., Pion I., Touraine P.
Ann. Endocrinol. (Paris), 2006; 67(4):331-37.
- Pituitary transcription factors: from congenital deficiencies to gene therapy.
Quentien MH, Barlier A, Franc JL, Brue T, Enjalbert A.J.
Neuroendocrinol., 2006, 1818(9):633-42.
-The Role of CBP/p300 Interactions and Pit-1 Dimerization in the Pathophysiological Mechanism of Combined Pituitary Hormone Deficiency.
Cohen RN, Brue T, Naik K, Houlihan CA, Wondisford FE, Radovick S.
J Clin Endocrinol Metab. 2006 Jan;91(1):239-4
- Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency.
James P. G. Turton, Rachel Reynaud, Ameeta Mehta, John Torpiano, Alexandru Saveanu, Kathryn S. Woods, Anatoly Tiulpakov, Vera Zdravkovic, Jill Hamilton, Simon Attard-Montalto, Ray Parascandalo, Cecil Vella, Peter E. Clayton, Stephen Shalet, John Barton, Thierry Brue, and Mehul T. Dattani
J Clin Endocrinol Metab. 2005 90: 4762-4770
- Génétique des Hypopituitarismes antérieurs.
R.Reynaud, A. Barlier , A. Saveanu , M.H Quentien , A. Enjalbert, T.Brue .(Ann Endo 2005)
Rachel Reynaud, Anne Barlier, Sophie Vallette-Kasic, Alexandru Saveanu, Marie-Pierre Guillet, Gilbert Simonin, Alain Enjalbert, Paul Valensi, and Thierry Brue
J Clin Endocrinol Metab 2005 90: 4880-4887
- Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations.
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James P. G. Turton, Rachel Reynaud, Ameeta Mehta, John Torpiano, Alexandru Saveanu, Kathryn S. Woods, Anatoly Tiulpakov, Vera Zdravkovic, Jill Hamilton, Simon Attard-Montalto, Ray Parascandalo, Cecil Vella, Peter E. Clayton, Stephen Shalet, John Barton, Thierry Brue, and Mehul T. Dattani.
J Clin Endocrinol Metab. 2005 90: 4762-4770
- Pituitary hormone deficiencies due to transcription factor gene alterations.
R. Reynaud, A. Saveanu , A. Barlier, A. Enjalbert, T. Brue.
Growth Hormone & IGF Research 14 (2004) 442–448
- A Familial Form of Congenital Hypopituitarism Due to a PROP1 Mutation in a Large Kindred: Phenotypic and in Vitro Functional Studies
Rachel Reynaud, Molka Chadli-Chaieb, Sophie Vallette-Kasic, Anne Barlier, Jacques Sarles, Isabelle Pellegrini-Bouiller, Alain Enjalbert, Larbi Chaieb, and Thierry Brue
J Clin Endocrinol Metab 2004 89: 5779-5786
- Hypopituitarisme congénital :Quand analyser les gènes de facteurs de transcription.
R.Reynaud, A. Barlier ,M. Chadli-Chaieb ,A. Saveanu ,G .Simonin ,A. Enjalbert, T.Brue
Presse Med 2004; 33: 400-5
- Molecular Basis of Combined Pituitary Hormone Deficiencies.
L.Cohen-S.Radovick
Endocrine Reviews. 2002. 23(4):431–442
- Combined Pituitary Hormone Deficiency due to the F135C Human Pit-1 (Pituitary-Specific Factor 1) Gene Mutation: Functional and Structural Correlates.
S. Vallette-Kasic, I. Pellegrini-Bouiller, F.Sampieri, G. Gunz, A. Diaz, S.Radovick, A. Enjalbert, T. BrueMol.
Endocrinol. 2001, 15 (3) : 411-420
- PROP1 Gene Screening in Patients with Multiple Pituitary Hormone Deficiency Reveals Two Sites of Hypermutability and a High Incidence of Corticotroph Deficiency.
S. Vallette-Kasic, A. Barlier, C. Teinturier, A. Diaz, M. Manavela, F. Berthezène, P. Bouchard, J. L. Chaussain, R. Brauner, I. Pellegrini-Bouiller, P. Jaquet, A. Enjalbert, and T. Brue
J Clin Endocrinol Metab 2001 86: 4529-453
- Développement hypophysaire et pathologie des facteurs de transcription.
A. Barlier, S. Vallette-Kasic, M. Manavela, M. Perez, A. Diaz, I. Pellegrini-Bouiller,A. Enjalbert, Th. Brue
Annales d’Endocrinologie, 2000 ; 61, 3, 201-207
- Defective Retinoic Acid Regulation of the Pit-1 Gene Enhancer: A Novel Mechanism of Combined Pituitary Hormone Deficiency.
Laurie E. Cohen, Kerstin Zanger, Thierry Brue,Fredric E. Wondisford, and Sally Radovick
Mol Endo · 1999 Vol 13 No. 3 ; 478
- A new mutation of the Gene encoding the transcription factor Pit-1 is responsible for combined pituitary Hormone Deficiency.
I Pellegrini-Bouiller, P Belicar, A Barlier, G Gunz, JP Charvet, P Jaquet, T Brue, B Vialettes, and A Enjalbert
J Clin Endocrinol Metab 1996 81: 2790-2796.
- Les déficits anté-hypophysaires associés congénitaux : Une appro che de l’ontogenèse hypophysaire.
T. Brue, S. Vallette, I. Pellegrini -Bouiller , A. Enjalbert
Annales d’Endocrinologie (Paris) 1997, 58, 436-450
- Facteurs de transcription anté-hypophysaires et hypopituitarismes multiples.
S. Vallette, I. Pellegrini -Bouiller , P. Jaquet, A. Enjalbert, T.Brue
Annales d’Endocrinologie (Paris) 1999, 60,216-223