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1.

Author Correction: Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes.

Rouxel, Ophélie; DaSilva, Jennifer; Beaudoin, Lucie; Nel, Isabelle; Tard, Céline; Cagninacci, Lucie; Kiaf, Badr; Oshima, Masaya; Diedisheim, Marc; Salou, Marion; Corbett, Alexandra; Rossjohn, Jamie; McCluskey, James; Scharfmann, Raphael; Battaglia, Manuela; Polak, Michel; Lantz, Olivier; Beltrand, Jacques; Lehuen, Agnès.

Nat Immunol ; 19(9): 1035, 2018 Sep.

Article in English | MEDLINE | ID: mdl-29880894

2.

Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes.

Rouxel, Ophélie; Da Silva, Jennifer; Beaudoin, Lucie; Nel, Isabelle; Tard, Céline; Cagninacci, Lucie; Kiaf, Badr; Oshima, Masaya; Diedisheim, Marc; Salou, Marion; Corbett, Alexandra; Rossjohn, Jamie; McCluskey, James; Scharfmann, Raphael; Battaglia, Manuela; Polak, Michel; Lantz, Olivier; Beltrand, Jacques; Lehuen, Agnès.

Nat Immunol ; 18(12): 1321-1331, 2017 Dec.

Article in English | MEDLINE | ID: mdl-28991267

3.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

Chen, Na; Zhao, Sen; Jolly, Angad; Wang, Lianlei; Pan, Hongxin; Yuan, Jian; Chen, Shaoke; Koch, André; Ma, Congcong; Tian, Weijie; Jia, Ziqi; Kang, Jia; Zhao, Lina; Qin, Chenglu; Fan, Xin; Rall, Katharina; Coban-Akdemir, Zeynep; Chen, Zefu; Jhangiani, Shalini; Liang, Ze; Niu, Yuchen; Li, Xiaoxin; Yan, Zihui; Wu, Yong; Dong, Shuangshuang; Song, Chengcheng; Qiu, Guixing; Zhang, Shuyang; Liu, Pengfei; Posey, Jennifer E; Zhang, Feng; Luo, Guangnan; Wu, Zhihong; Su, Jianzhong; Zhang, Jianguo; Chen, Eugenia Y; Rouskas, Konstantinos; Glentis, Stavros; Bacopoulou, Flora; Deligeoroglou, Efthymios; Chrousos, George; Lyonnet, Stanislas; Polak, Michel; Rosenberg, Carla; Dingeldein, Irene; Bonilla, Ximena; Borel, Christelle; Gibbs, Richard A; Dietrich, Jennifer E; Dimas, Antigone S.

Am J Hum Genet ; 108(2): 337-345, 2021 02 04.

Article in English | MEDLINE | ID: mdl-33434492

4.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Mechaussier, Sabrina; Almoallem, Basamat; Zeitz, Christina; Van Schil, Kristof; Jeddawi, Laila; Van Dorpe, Jo; Dueñas Rey, Alfredo; Condroyer, Christel; Pelle, Olivier; Polak, Michel; Boddaert, Nathalie; Bahi-Buisson, Nadia; Cavallin, Mara; Bacquet, Jean-Louis; Mouallem-Bézière, Alexandra; Zambrowski, Olivia; Sahel, José Alain; Audo, Isabelle; Kaplan, Josseline; Rozet, Jean-Michel; De Baere, Elfride; Perrault, Isabelle.

Am J Hum Genet ; 106(6): 859-871, 2020 06 04.

Article in English | MEDLINE | ID: mdl-32470375

5.

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.

de Gouveia Buff Passone, Caroline; Giani, Elisa; Vaivre-Douret, Laurence; Kariyawasam, Dulanjalee; Berdugo, Marianne; Garcin, Laure; Beltrand, Jacques; Bernardo, Wanderley Marques; Polak, Michel.

Pediatr Diabetes ; 23(6): 675-692, 2022 09.

Article in English | MEDLINE | ID: mdl-35657808

6.

Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.

Mouler, Marie; Lebenthal, Yael; de Vries, Liat; Yackobovitch-Gavan, Michal; Averbuch, Noa Shefer; Fauret-Amsellem, Anne Laure; Cavé, Helene; Beltrand, Jacques; Polak, Michel; Phillip, Moshe; Nimri, Revital.

Pediatr Diabetes ; 23(1): 45-54, 2022 02.

Article in English | MEDLINE | ID: mdl-34837310

7.

Management of severe inaugural diabetic ketoacidosis in paediatric intensive care: retrospective comparison of two protocols.

Maurice, Laure; Julliand, Sébastien; Polak, Michel; Bismuth, Elise; Storey, Caroline; Renolleau, Sylvain; Dauger, Stéphane; Le Bourgeois, Fleur.

Eur J Pediatr ; 181(4): 1497-1506, 2022 Apr.

Article in English | MEDLINE | ID: mdl-34993625

8.

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Jullien, Nicolas; Saveanu, Alexandru; Vergier, Julia; Marquant, Emeline; Quentien, Marie Helene; Castinetti, Frederic; Galon-Faure, Noémie; Brauner, Raja; Marrakchi Turki, Zinet; Tauber, Maité; El Kholy, Mohamed; Linglart, Agnès; Rodien, Patrice; Fedala, Nora Soumeya; Bergada, Ignacio; Cortet-Rudelli, Christine; Polak, Michel; Nicolino, Marc; Stuckens, Chantal; Barlier, Anne; Brue, Thierry; Reynaud, Rachel.

Clin Endocrinol (Oxf) ; 94(2): 277-289, 2021 02.

Article in English | MEDLINE | ID: mdl-33098107

9.

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Bérat, Claire-Marine; Montealegre, Sebastian; Wiedemann, Arnaud; Nuzum, Malou Le Corronc; Blondel, Amélie; Debruge, Hugo; Cano, Aline; Chabrol, Brigitte; Hoebeke, Célia; Polak, Michel; Stoupa, Athanasia; Feillet, François; Torre, Stéphanie; Boddaert, Nathalie; Bruel, Henri; Barth, Magalie; Damaj, Lena; Abi-Wardé, Marie-Thérèse; Afenjar, Alexandra; Benoist, Jean-François; Madrange, Marine; Caccavelli, Laure; Renard, Perrine; Hubas, Arnaud; Nusbaum, Patrick; Pontoizeau, Clément; Gobin, Stéphanie; van Endert, Peter; Ottolenghi, Chris; Maltret, Alice; de Lonlay, Pascale.

J Inherit Metab Dis ; 44(2): 415-425, 2021 03.

Article in English | MEDLINE | ID: mdl-32929747

10.

Low-dose IL-2 in children with recently diagnosed type 1 diabetes: a Phase I/II randomised, double-blind, placebo-controlled, dose-finding study.

Rosenzwajg, Michelle; Salet, Randa; Lorenzon, Roberta; Tchitchek, Nicolas; Roux, Alexandra; Bernard, Claude; Carel, Jean-Claude; Storey, Caroline; Polak, Michel; Beltrand, Jacques; Amouyal, Chloé; Hartemann, Agnès; Corbeau, Pierre; Vicaut, Eric; Bibal, Cecile; Bougnères, Pierre; Tran, Tu-Anh; Klatzmann, David.

Diabetologia ; 63(9): 1808-1821, 2020 09.

Article in English | MEDLINE | ID: mdl-32607749

11.

Lopinavir-Ritonavir Impairs Adrenal Function in Infants.

Kariyawasam, Dulanjalee; Peries, Marianne; Foissac, Frantz; Eymard-Duvernay, Sabrina; Tylleskär, Thorkild; Singata-Madliki, Mandisa; Kankasa, Chipepo; Meda, Nicolas; Tumwine, James; Mwiya, Mwiya; Engebretsen, Ingunn; Flück, Christa E; Hartmann, Michaela F; Wudy, Stefan A; Hirt, Deborah; Treluyer, Jean Marc; Molès, Jean-Pierre; Blanche, Stéphane; Van De Perre, Philippe; Polak, Michel; Nagot, Nicolas.

Clin Infect Dis ; 71(4): 1030-1039, 2020 08 14.

Article in English | MEDLINE | ID: mdl-31633158

12.

Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.

Mircher, Clotilde; Sacco, Silvia; Bouis, Charles; Gallard, Jennifer; Pichot, Aude; Le Galloudec, Eric; Cieuta, Cécile; Marey, Isabelle; Greiner-Mahler, Oliver; Dorison, Nathalie; Gambarini, Alicia; Stora, Samantha; Durand, Sophie; Polak, Michel; Baruchel, André; Schlumberger, Emilie; Dewailly, Jean; Azar-Kolakez, Ahlam; Guéant-Rodriguez, Rosa-Maria; Guéant, Jean-Louis; Borderie, Didier; Bonnefont-Rousselot, Dominique; Blondiaux, Elodie; Ravel, Aimé; Sturtz, Franck G.

Genet Med ; 22(1): 44-52, 2020 01.

Article in English | MEDLINE | ID: mdl-31281181

13.

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin, Laure; Mericq, Veronica; Fauret-Amsellem, Anne-Laure; Cave, Helene; Polak, Michel; Beltrand, Jacques.

Pediatr Diabetes ; 21(6): 932-941, 2020 09.

Article in English | MEDLINE | ID: mdl-32418263

14.

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Cohen, Enzo; Belkacem, Sabrina; Fedala, Soumeya; Collot, Nathalie; Khallouf, Eliane; Dastot, Florence; Polak, Michel; Duquesnoy, Philippe; Brioude, Frederic; Rose, Sophie; Viot, Géraldine; Soleyan, Aude; Carel, Jean-Claude; Sobrier, Marie-Laure; Chanson, Philippe; Gatelais, Frédérique; Heinrichs, Claudine; Kaffel, Noureddine; Coutant, Regis; Savas Erdeve, Senay; Kurnaz, Erdal; Aycan, Zehra; Thalassinos, Caroline; Lyonnet, Stanislas; Siklar, Zeynep; Berberoglu, Merih; Brachet, Cécile; Amselem, Serge; Legendre, Marie.

Hum Mutat ; 40(11): 2033-2043, 2019 11.

Article in English | MEDLINE | ID: mdl-31231873

15.

Mutations in BOREALIN cause thyroid dysgenesis.

Carré, Aurore; Stoupa, Athanasia; Kariyawasam, Dulanjalee; Gueriouz, Manelle; Ramond, Cyrille; Monus, Taylor; Léger, Juliane; Gaujoux, Sébastien; Sebag, Frédéric; Glaser, Nicolas; Zenaty, Delphine; Nitschke, Patrick; Bole-Feysot, Christine; Hubert, Laurence; Lyonnet, Stanislas; Scharfmann, Raphaël; Munnich, Arnold; Besmond, Claude; Taylor, William; Polak, Michel.

Hum Mol Genet ; 26(3): 599-610, 2017 02 01.

Article in English | MEDLINE | ID: mdl-28025328

16.

Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes.

Beltrand, Jacques; Baptiste, Amandine; Busiah, Kanetee; Bouazza, Naim; Godot, Cecile; Boucheron, Adeline; Djerada, Zoubir; Gozalo, Claire; Berdugo, Marianne; Tréluyer, Jean-Marc; Elie, Caroline; Polak, Michel.

Pediatr Diabetes ; 20(3): 246-254, 2019 05.

Article in English | MEDLINE | ID: mdl-30684309

17.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Mechaussier, Sabrina; Almoallem, Basamat; Zeitz, Christina; Van Schil, Kristof; Jeddawi, Laila; Van Dorpe, Jo; Rey, Alfredo Dueñas; Condroyer, Christel; Pelle, Olivier; Polak, Michel; Boddaert, Nathalie; Bahi-Buisson, Nadia; Cavallin, Mara; Bacquet, Jean-Louis; Mouallem-Bézière, Alexandra; Zambrowski, Olivia; Sahel, José Alain; Audo, Isabelle; Kaplan, Josseline; Rozet, Jean-Michel; De Baere, Elfride; Perrault, Isabelle.

Am J Hum Genet ; 107(3): 580, 2020 09 03.

Article in English | MEDLINE | ID: mdl-32888510

18.

Prediction of Neonatal Hyperthyroidism.

Banigé, Maïa; Polak, Michel; Luton, Dominique.

J Pediatr ; 197: 249-254.e1, 2018 06.

Article in English | MEDLINE | ID: mdl-29605392

19.

Surgery is not superior to dilation for the management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome: a multicenter comparative observational study in 131 patients.

Cheikhelard, Alaa; Bidet, Maud; Baptiste, Amandine; Viaud, Magali; Fagot, Christine; Khen-Dunlop, Naziha; Louis-Sylvestre, Christine; Sarnacki, Sabine; Touraine, Philippe; Elie, Caroline; Aigrain, Yves; Polak, Michel.

Am J Obstet Gynecol ; 219(3): 281.e1-281.e9, 2018 09.

Article in English | MEDLINE | ID: mdl-30036500

20.

A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.

Hancili, Suna; Bonnefond, Amélie; Philippe, Julien; Vaillant, Emmanuel; De Graeve, Franck; Sand, Olivier; Busiah, Kanetee; Robert, Jean-Jacques; Polak, Michel; Froguel, Philippe; Güven, Ayla; Vaxillaire, Martine.

Pediatr Diabetes ; 19(3): 381-387, 2018 05.

Article in English | MEDLINE | ID: mdl-28940958

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Author Correction: Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes.

Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.

Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.

Management of severe inaugural diabetic ketoacidosis in paediatric intensive care: retrospective comparison of two protocols.

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Low-dose IL-2 in children with recently diagnosed type 1 diabetes: a Phase I/II randomised, double-blind, placebo-controlled, dose-finding study.

Lopinavir-Ritonavir Impairs Adrenal Function in Infants.

Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Mutations in BOREALIN cause thyroid dysgenesis.

Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Prediction of Neonatal Hyperthyroidism.

Surgery is not superior to dilation for the management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome: a multicenter comparative observational study in 131 patients.

A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.