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Items: 1 to 50 of 116

1.

A systematic review of non-genetic predictors and genetic factors of glycated haemoglobin in type 1 diabetes one year after diagnosis.

Gloaguen E, Bendelac N, Nicolino M, Julier C, Mathieu F.

Diabetes Metab Res Rev. 2018 Nov;34(8):e3051. doi: 10.1002/dmrr.3051. Epub 2018 Sep 13.

PMID:
30063815
2.

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

Dumeige L, Chatelais L, Bouvattier C, De Kerdanet M, Hyon C, Esteva B, Samara-Boustani D, Zenaty D, Nicolino M, Baron S, Metz-Blond C, Naud-Saudreau C, Dupuis C, Léger J, Siffroi JP, Donadille B, Christin-Maitre S, Carel JC, Coutant R, Martinerie L.

Eur J Endocrinol. 2018 Sep;179(3):181-190. doi: 10.1530/EJE-18-0309. Epub 2018 Jul 4.

PMID:
29973376
3.

Very high titres of ZnT8 autoantibodies at type 1 diabetes onset and presence of autoantibodies related to other autoimmune disorders.

Marchand L, Garnier L, Thivolet C, Nicolino M, Fabien N.

Diabetes Metab. 2018 Mar 22. pii: S1262-3636(18)30072-7. doi: 10.1016/j.diabet.2018.03.003. [Epub ahead of print] No abstract available.

PMID:
29656022
4.

Serum GH concentration must now be expressed in mass units in France like in the rest of the world.

Chanson P, Reynaud R, Coutant R, Linglart A, Nicolino M, Rodien P, Borson-Chazot F, Tabarin A, Le Bouc Y, Piketty ML, Gauchez AS, Chevenne D, Porquet D, Souberbielle JC.

Ann Biol Clin (Paris). 2018 Apr 1;76(2):133-134. doi: 10.1684/abc.2018.1322. No abstract available.

PMID:
29623880
5.

The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones.

Sowers CR, Wang R, Bourne RA, McGrath BC, Hu J, Bevilacqua SC, Paton JC, Paton AW, Collardeau-Frachon S, Nicolino M, Cavener DR.

J Biol Chem. 2018 Apr 6;293(14):5134-5149. doi: 10.1074/jbc.M117.813790. Epub 2018 Feb 14.

6.

Screening of ZnT8 autoantibodies in the diagnosis of autoimmune diabetes in a large French cohort.

Garnier L, Marchand L, Benoit M, Nicolino M, Bendelac N, Wright C, Moulin P, Lombard C, Thivolet C, Fabien N.

Clin Chim Acta. 2018 Mar;478:162-165. doi: 10.1016/j.cca.2017.12.043. Epub 2017 Dec 28.

PMID:
29288641
7.

Triple-A syndrome: a wide spectrum of adrenal dysfunction.

Roucher-Boulez F, Brac de la Perriere A, Jacquez A, Chau D, Guignat L, Vial C, Morel Y, Nicolino M, Raverot G, Pugeat M.

Eur J Endocrinol. 2018 Mar;178(3):199-207. doi: 10.1530/EJE-17-0642. Epub 2017 Dec 13.

PMID:
29237697
8.

Serum GH concentrations must now be expressed in mass units in France…as in the rest of the world.

Chanson P, Reynaud R, Coutant R, Linglart A, Nicolino M, Rodien P, Borson-Chazot F, Tabarin A, Le Bouc Y, Piketty ML, Gauchez AS, Chevenne D, Porquet D, Souberbielle JC.

Ann Endocrinol (Paris). 2017 Dec;78(6):488-489. doi: 10.1016/j.ando.2017.11.002. No abstract available.

PMID:
29229062
9.

Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

Lenfant C, Baz P, Degavre A, Philippi A, Senée V, Vandiedonck C, Derbois C, Nicolino M, Zalloua P, Julier C.

Genes (Basel). 2017 Nov 7;8(11). pii: E309. doi: 10.3390/genes8110309.

10.

Risk of autoimmune diseases and human papilloma virus (HPV) vaccines: Six years of case-referent surveillance.

Grimaldi-Bensouda L, Rossignol M, Koné-Paut I, Krivitzky A, Lebrun-Frenay C, Clet J, Brassat D, Papeix C, Nicolino M, Benhamou PY, Fain O, Costedoat-Chalumeau N, Courcoux MF, Viallard JF, Godeau B, Papo T, Vermersch P, Bourgault-Villada I, Breart G, Abenhaim L; PGRx-AD Study Group.

J Autoimmun. 2017 May;79:84-90. doi: 10.1016/j.jaut.2017.01.005. Epub 2017 Feb 9.

11.

dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.

Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senée V, Bacq D, Besse C, Baz B, Marroquí L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socié G, Eizirik DL, Gautier JF, Julier C.

Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10.

12.

Growth curves for congenital adrenal hyperplasia from a national retrospective cohort.

Bretones P, Riche B, Pichot E, David M, Roy P, Tardy V, Kassai B, Gaillard S, Bernoux D, Morel Y, Chatelain P, Nicolino M, Cornu C; French Collaborative CAH Growth Study Group.

J Pediatr Endocrinol Metab. 2016 Dec 1;29(12):1379-1388. doi: 10.1515/jpem-2016-0156.

PMID:
27852974
13.

Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control study.

Balazard F, Le Fur S, Valtat S, Valleron AJ, Bougnères P; Isis-Diab collaborative group, Thevenieau D, Chatel CF, Desailloud R, Bony-Trifunovic H, Ducluzeau PH, Coutant R, Caudrelier S, Pambou A, Dubosclard E, Joubert F, Jan P, Marcoux E, Bertrand AM, Mignot B, Penformis A, Stuckens C, Piquemal R, Barat P, Rigalleau V, Stheneur C, Fournier S, Kerlan V, Metz C, Fargeot-Espaliat A, Reznic Y, Olivier F, Gueorguieva I, Monier A, Radet C, Gajdos V, Terral D, Vervel C, Bendifallah D, Signor CB, Dervaux D, Benmahammed A, Loeuille GA, Popelard F, Guillou A, Benhamou PY, Khoury J, Brossier JP, Bassil J, Clavel S, Le Luyer B, Bougnères P, Labay F, Guemas I, Weill J, Cappoen JP, Nadalon S, Lienhardt-Roussie A, Paoli A, Kerouedan C, Yollin E, Nicolino M, Simonin G, Cohen J, Atlan C, Tamboura A, Dubourg H, Pignol ML, Talon P, Jellimann S, Chaillous L, Baron S, Bortoluzzi MN, Baechler E, Salet R, Zelinsky-Gurung A, Dallavale F, Larger E, Laloi-Michelin M, Gautier JF, Guérin B, Oilleau L, Pantalone L, Lukas C, Guilhem I, De Kerdanet M, Wielickzo MC, Priou-Guesdon M, Richard O, Kurtz F, Laisney N, Ancelle D, Parlier G, Boniface C, Bockel DP, Dufillot D, Razafimahefa B, Gourdy P, Lecomte P, Pepin-Donat M, Combes-Moukhovsky ME, Zymmermann B, Raoulx M, Dumont AG.

BMC Public Health. 2016 Sep 29;16(1):1021.

14.

miRNA-375 a Sensor of Glucotoxicity Is Altered in the Serum of Children with Newly Diagnosed Type 1 Diabetes.

Marchand L, Jalabert A, Meugnier E, Van den Hende K, Fabien N, Nicolino M, Madec AM, Thivolet C, Rome S.

J Diabetes Res. 2016;2016:1869082. doi: 10.1155/2016/1869082. Epub 2016 May 24.

15.

[WHAT IS THE RISK FOR CHILDHOOD OBESITY?].

Nicolino M, Villanueva C.

Rev Prat. 2015 Dec;65(10):1275-7. French.

PMID:
26979020
16.

Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

Cessans C, Ehlinger V, Arnaud C, Yart A, Capri Y, Barat P, Cammas B, Lacombe D, Coutant R, David A, Baron S, Weill J, Leheup B, Nicolino M, Salles JP, Verloes A, Tauber M, Cavé H, Edouard T.

Eur J Endocrinol. 2016 May;174(5):641-50. doi: 10.1530/EJE-15-0922. Epub 2016 Feb 22.

PMID:
26903553
17.

Multiple autoantibodies at onset do not accurately predict long-term pancreatic beta-cell fate in a 13-year-old obese child with immediate insulin-requiring diabetes.

Marchand L, Nicolino M, Fabien N, Roep BO, Thivolet C.

Diabetes Metab. 2016 Feb;42(1):69-70. doi: 10.1016/j.diabet.2015.10.006. Epub 2015 Nov 24. No abstract available.

PMID:
26619919
18.

Management of adolescents with very poorly controlled type 1 diabetes by nurses: a parallel group randomized controlled trial.

Kassai B, Rabilloud M, Bernoux D, Michal C, Riche B, Ginhoux T, Laudy V, Terral D, Didier-Wright C, Maire V, Dumont C, Cottancin G, Plasse M, Jeannoel GP, Khoury J, Bony C, Lièvre M, Drai J, Nicolino M.

Trials. 2015 Sep 8;16:399. doi: 10.1186/s13063-015-0923-7.

19.

Early Neurodegeneration in the Brain of a Child Without Functional PKR-like Endoplasmic Reticulum Kinase.

Bruch J, Kurz C, Vasiljevic A, Nicolino M, Arzberger T, Höglinger GU.

J Neuropathol Exp Neurol. 2015 Aug;74(8):850-7. doi: 10.1097/NEN.0000000000000224.

PMID:
26172286
20.

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.

Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senée V, Lopes M, Cunha DA, Harding HP, Derbois C, Bendelac N, Hattersley AT, Eizirik DL, Ron D, Cnop M, Julier C.

Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9.

21.

Elevated ratio of acylated to unacylated ghrelin in children and young adults with Prader-Willi syndrome.

Kuppens RJ, Diène G, Bakker NE, Molinas C, Faye S, Nicolino M, Bernoux D, Delhanty PJ, van der Lely AJ, Allas S, Julien M, Delale T, Tauber M, Hokken-Koelega AC.

Endocrine. 2015 Dec;50(3):633-42. doi: 10.1007/s12020-015-0614-x. Epub 2015 May 20.

22.

Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect.

Huvenne H, Le Beyec J, Pépin D, Alili R, Kherchiche PP, Jeannic E, Frelut ML, Lacorte JM, Nicolino M, Viard A, Laville M, Ledoux S, Tounian P, Poitou C, Dubern B, Clément K.

J Clin Endocrinol Metab. 2015 May;100(5):E757-66. doi: 10.1210/jc.2015-1036. Epub 2015 Mar 9.

PMID:
25751111
23.

Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients.

Salenave S, Ancelle D, Bahougne T, Raverot G, Kamenický P, Bouligand J, Guiochon-Mantel A, Linglart A, Souchon PF, Nicolino M, Young J, Borson-Chazot F, Delemer B, Chanson P.

J Clin Endocrinol Metab. 2015 Mar;100(3):1177-86. doi: 10.1210/jc.2014-3670. Epub 2014 Dec 22.

PMID:
25532043
24.

[Ketoacidosis at time of diagnosis of type 1 diabetes in children and adolescents: effect of a national prevention campaign].

Choleau C, Maitre J, Elie C, Barat P, Bertrand AM, de Kerdanet M, Le Tallec C, Nicolino M, Tubiana-Rufi N, Levy-Marchal C, Cahané M, Robert JJ; le Groupe d’étude de l’aide aux jeunes diabétiques (AJD Study Group).

Arch Pediatr. 2015 Apr;22(4):343-51. doi: 10.1016/j.arcped.2014.11.001. Epub 2014 Nov 14. French.

PMID:
25497364
25.

Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.

Collardeau-Frachon S, Vasiljevic A, Jouvet A, Bouvier R, Senée V, Nicolino M.

Pediatr Diabetes. 2015 Nov;16(7):510-20. doi: 10.1111/pedi.12201. Epub 2014 Aug 18.

PMID:
25131821
26.

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

Chaussenot A, Rouzier C, Quere M, Plutino M, Ait-El-Mkadem S, Bannwarth S, Barth M, Dollfus H, Charles P, Nicolino M, Chabrol B, Vialettes B, Paquis-Flucklinger V.

Clin Genet. 2015 May;87(5):430-9. doi: 10.1111/cge.12437. Epub 2014 Aug 6.

PMID:
24890733
27.

Ketoacidosis at diagnosis of type 1 diabetes in French children and adolescents.

Choleau C, Maitre J, Filipovic Pierucci A, Elie C, Barat P, Bertrand AM, de Kerdanet M, Letallec C, Levy-Marchal C, Nicolino M, Tubiana-Rufi N, Cahané M, Robert JJ; AJD Study Group.

Diabetes Metab. 2014 Apr;40(2):137-42. doi: 10.1016/j.diabet.2013.11.001. Epub 2013 Dec 11.

PMID:
24332018
28.

Autoimmune disorders and quadrivalent human papillomavirus vaccination of young female subjects.

Grimaldi-Bensouda L, Guillemot D, Godeau B, Bénichou J, Lebrun-Frenay C, Papeix C, Labauge P, Berquin P, Penfornis A, Benhamou PY, Nicolino M, Simon A, Viallard JF, Costedoat-Chalumeau N, Courcoux MF, Pondarré C, Hilliquin P, Chatelus E, Foltz V, Guillaume S, Rossignol M, Abenhaim L; PGRx-AID Study Group.

J Intern Med. 2014 Apr;275(4):398-408. doi: 10.1111/joim.12155. Epub 2013 Nov 22.

29.

Uncommon cause of large paravertebral calcification in a child.

Llano JP, Beaufils E, Nicolino M.

J Pediatr. 2013 Apr;162(4):881. doi: 10.1016/j.jpeds.2012.10.016. Epub 2012 Nov 16. No abstract available.

PMID:
23164306
30.

Fetal ovarian cysts: an early manifestation of McCune-Albright syndrome?

Gaspari L, Paris F, Nicolino M, Hameury F, Bonnaure H, Pienkowski C, Servant N, Kalfa N, Sultan C.

Prenat Diagn. 2012 Sep;32(9):859-63. doi: 10.1002/pd.3921. Epub 2012 Jun 13.

PMID:
22692721
31.

A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation.

Klee P, Bellanné-Chantelot C, Depret G, Llano JP, Paget C, Nicolino M.

Diabetes Metab. 2012 Apr;38(2):179-82. doi: 10.1016/j.diabet.2011.12.001. Epub 2012 Feb 11.

PMID:
22326206
32.

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S.

J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2.

PMID:
22051515
33.

Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature.

Nozières C, Berlier P, Dupuis C, Raynaud-Ravni C, Morel Y, Chazot FB, Nicolino M.

Orphanet J Rare Dis. 2011 Oct 24;6:67. doi: 10.1186/1750-1172-6-67. Review.

34.

Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.

Salmon-Musial AS, Rosilio M, David M, Huber C, Pichot E, Cormier-Daire V, Nicolino M.

Horm Res Paediatr. 2011;76(3):178-85. doi: 10.1159/000329359. Epub 2011 Sep 10.

PMID:
21912078
35.

Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies.

Morel Y, Plotton I, Mallet D, Nicolino M, Bertrand AM, David M, Nihoul-Fekete C, Chatelain P.

Adv Exp Med Biol. 2011;707:15-7. doi: 10.1007/978-1-4419-8002-1_4. No abstract available.

PMID:
21691946
36.

Neurological features in adult Triple-A (Allgrove) syndrome.

Vallet AE, Verschueren A, Petiot P, Vandenberghe N, Nicolino M, Roman S, Pouget J, Vial C.

J Neurol. 2012 Jan;259(1):39-46. doi: 10.1007/s00415-011-6115-9. Epub 2011 Jun 9.

PMID:
21656342
37.

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

Miskinyte S, Butler MG, Hervé D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E.

Am J Hum Genet. 2011 Jun 10;88(6):718-728. doi: 10.1016/j.ajhg.2011.04.017. Epub 2011 May 19.

38.

Wolcott-Rallison syndrome.

Julier C, Nicolino M.

Orphanet J Rare Dis. 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. Review.

39.

Surgical options in disorders of sex development (dsd) with ambiguous genitalia.

Vidal I, Gorduza DB, Haraux E, Gay CL, Chatelain P, Nicolino M, Mure PY, Mouriquand P.

Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):311-24. doi: 10.1016/j.beem.2009.10.004. Review.

PMID:
20541154
40.

[A new possible phenotype of carbimazole embryopathy: A case report].

Mellerio H, Gay CL, Forest MG, Orgiazzi J, Nicolino M.

Arch Pediatr. 2010 May;17(5):511-6. doi: 10.1016/j.arcped.2010.02.017. Epub 2010 Apr 14. French.

PMID:
20395117
41.

Specific gene expression signature associated with development of autoimmune type-I diabetes using whole-blood microarray analysis.

Reynier F, Pachot A, Paye M, Xu Q, Turrel-Davin F, Petit F, Hot A, Auffray C, Bendelac N, Nicolino M, Mougin B, Thivolet C.

Genes Immun. 2010 Apr;11(3):269-78. doi: 10.1038/gene.2009.112. Epub 2010 Jan 21.

PMID:
20090770
42.

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.

Nicolino M, Claiborn KC, Senée V, Boland A, Stoffers DA, Julier C.

Diabetes. 2010 Mar;59(3):733-40. doi: 10.2337/db09-1284. Epub 2009 Dec 15.

43.

Ketoconazole treatment for Cushing syndrome in McCune-Albright syndrome.

Vong CH, Forest M, Nicolino M.

J Pediatr. 2009 Mar;154(3):467-8; author reply 468-9. doi: 10.1016/j.jpeds.2008.12.003. No abstract available.

PMID:
19874777
44.

Incremental value of continuous glucose monitoring when starting pump therapy in patients with poorly controlled type 1 diabetes: the RealTrend study.

Raccah D, Sulmont V, Reznik Y, Guerci B, Renard E, Hanaire H, Jeandidier N, Nicolino M.

Diabetes Care. 2009 Dec;32(12):2245-50. doi: 10.2337/dc09-0750. Epub 2009 Sep 18.

45.

From paediatric to adult endocrinology care: the challenge of the transition period.

Pugeat M, Nicolino M.

Pediatr Endocrinol Rev. 2009 Jun;6 Suppl 4:519-22. Review.

PMID:
19550386
46.

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.

Schluth-Bolard C, Sanlaville D, Labalme A, Till M, Michel-Calemard L, Rafat A, Zabot MT, Nicolino M, Guibaud L, Edery P.

Am J Med Genet A. 2009 Nov;149A(11):2584-7. doi: 10.1002/ajmg.a.32772. No abstract available.

PMID:
19504602
47.

Precocious puberty and unlicensed paediatric drugs for severe hyperparathyroidism.

Bacchetta J, Plotton I, Ranchin B, Vial T, Nicolino M, Morel Y, Cochat P.

Nephrol Dial Transplant. 2009 Aug;24(8):2595-8. doi: 10.1093/ndt/gfp211. Epub 2009 May 6.

PMID:
19420106
48.

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS.

Genet Med. 2009 Mar;11(3):210-9. doi: 10.1097/GIM.0b013e31819d0996.

PMID:
19287243
49.

Establishing glycaemic control with continuous subcutaneous insulin infusion in children and adolescents with type 1 diabetes: experience of the PedPump Study in 17 countries.

Danne T, Battelino T, Jarosz-Chobot P, Kordonouri O, Pánkowska E, Ludvigsson J, Schober E, Kaprio E, Saukkonen T, Nicolino M, Tubiana-Rufi N, Klinkert C, Haberland H, Vazeou A, Madacsy L, Zangen D, Cherubini V, Rabbone I, Toni S, de Beaufort C, Bakker-van Waarde W, van den Berg N, Volkov I, Barrio R, Hanas R, Zumsteg U, Kuhlmann B, Aebi C, Schumacher U, Gschwend S, Hindmarsh P, Torres M, Shehadeh N, Phillip M; PedPump Study Group.

Diabetologia. 2008 Sep;51(9):1594-601. doi: 10.1007/s00125-008-1072-2. Epub 2008 Jul 1.

PMID:
18592209
50.

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

Laforêt P, Petiot P, Nicolino M, Orlikowski D, Caillaud C, Pellegrini N, Froissart R, Petitjean T, Maire I, Chabriat H, Hadrane L, Annane D, Eymard B.

Neurology. 2008 May 27;70(22):2063-6. doi: 10.1212/01.wnl.0000313367.09469.13.

PMID:
18505979

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