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1990 1
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2011 4
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2019 2
2020 1
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2024 0

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14 results

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Page 1
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
Giabicani E, Willems M, Steunou V, Chantot-Bastaraud S, Thibaud N, Abi Habib W, Azzi S, Lam B, Bérard L, Bony-Trifunovic H, Brachet C, Brischoux-Boucher E, Caldagues E, Coutant R, Cuvelier ML, Gelwane G, Guemas I, Houang M, Isidor B, Jeandel C, Lespinasse J, Naud-Saudreau C, Jesuran-Perelroizen M, Perrin L, Piard J, Sechter C, Souchon PF, Storey C, Thomas D, Le Bouc Y, Rossignol S, Netchine I, Brioude F. Giabicani E, et al. Among authors: naud saudreau c. J Med Genet. 2020 Mar;57(3):160-168. doi: 10.1136/jmedgenet-2019-106328. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586944 Free article.
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.
El Allali Y, Hermetet C, Bacchetta J, Amouroux C, Rothenbuhler A, Porquet-Bordes V, Champigny MA, Baron S, Barat P, Bony-Trifunovic H, Bourdet K, Busiah K, Cartigny-Maciejewski M, Compain F, Coutant R, Amsellem-Jager J, De Kerdanet M, Magontier N, Mignot B, Richard O, Rossignol S, Soskin S, Berot A, Naud-Saudreau C, Salles JP, Linglart A, Edouard T, Lienhardt-Roussie A. El Allali Y, et al. Among authors: naud saudreau c. Eur J Endocrinol. 2021 Feb;184(2):347-355. doi: 10.1530/EJE-20-1119. Eur J Endocrinol. 2021. PMID: 33361469
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E. Geoffron S, et al. Among authors: naud saudreau c. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. J Clin Endocrinol Metab. 2018. PMID: 29659920
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. Dumeige L, et al. Among authors: naud saudreau c. Eur J Endocrinol. 2018 Sep;179(3):181-190. doi: 10.1530/EJE-18-0309. Epub 2018 Jul 4. Eur J Endocrinol. 2018. PMID: 29973376 Free article.
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
Roucher-Boulez F, Mallet-Motak D, Samara-Boustani D, Jilani H, Ladjouze A, Souchon PF, Simon D, Nivot S, Heinrichs C, Ronze M, Bertagna X, Groisne L, Leheup B, Naud-Saudreau C, Blondin G, Lefevre C, Lemarchand L, Morel Y. Roucher-Boulez F, et al. Among authors: naud saudreau c. Eur J Endocrinol. 2016 Jul;175(1):73-84. doi: 10.1530/EJE-16-0056. Epub 2016 Apr 29. Eur J Endocrinol. 2016. PMID: 27129361 Free article.
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.
Maupetit-Méhouas S, Mariot V, Reynès C, Bertrand G, Feillet F, Carel JC, Simon D, Bihan H, Gajdos V, Devouge E, Shenoy S, Agbo-Kpati P, Ronan A, Naud-Saudreau C, Lienhardt A, Silve C, Linglart A. Maupetit-Méhouas S, et al. Among authors: naud saudreau c. J Med Genet. 2011 Jan;48(1):55-63. doi: 10.1136/jmg.2010.081356. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972248 Free article.
14 results