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Year Number of Results
2000 1
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2010 2
2011 2
2012 1
2013 2
2014 3
2015 5
2016 5
2017 1
2018 1
2019 3
2020 1
2021 2
2022 3
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2025 3

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31 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: souchon pf. 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.
Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.
Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp EH, Saugier-Veber P, Fabien N, Raymond-Top I, Cardot-Bauters C, Carel JC, Cartigny M, Chabre O, Chanson P, Delemer B, Do Cao C, Guignat L, Kahn JE, Kerlan V, Lefebvre H, Linglart A, Mallone R, Reynaud R, Sendid B, Souchon PF, Touraine P, Wémeau JL, Vantyghem MC. Humbert L, et al. Among authors: souchon pf. J Clin Endocrinol Metab. 2025 Feb 18;110(3):e757-e773. doi: 10.1210/clinem/dgae211. J Clin Endocrinol Metab. 2025. PMID: 38605470 Free PMC article.
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
Stoupa A, Kariyawasam D, Jabot-Hanin F, Nguyen-Quoc A, Hanein S, Rabeony T, Elie C, Colas S, Thalassinos C, Oliver-Petit I, Houang M, Coutant R, Barat P, Nicolino M, Reynaud R, de Kerdanet M, Bensignor C, Baron S, Raynaud-Ravni C, Souchon PF, Léger J, Castanet M, Bole-Feysot C, Nitschke P, Lyonnet S, Polak M, Carré A. Stoupa A, et al. Among authors: souchon pf. J Clin Endocrinol Metab. 2025 Sep 16;110(10):e3489-e3502. doi: 10.1210/clinem/dgaf004. J Clin Endocrinol Metab. 2025. PMID: 39787321
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Le Collen L, Delemer B, Spodenkiewicz M, Cornillet Lefebvre P, Durand E, Vaillant E, Badreddine A, Derhourhi M, Mouhoub TA, Jouret G, Juttet P, Souchon PF, Vaxillaire M, Froguel P, Bonnefond A, Doco Fenzy M. Le Collen L, et al. Among authors: souchon pf. Orphanet J Rare Dis. 2022 Feb 28;17(1):86. doi: 10.1186/s13023-022-02248-2. Orphanet J Rare Dis. 2022. PMID: 35227307 Free PMC article.
International comparison of glycaemic control in people with type 1 diabetes: an update and extension.
Prigge R, McKnight JA, Wild SH, Haynes A, Jones TW, Davis EA, Rami-Merhar B, Fritsch M, Prchla C, Lavens A, Doggen K, Chao S, Aronson R, Brown R, Ibfelt EH, Svensson J, Young R, Warner JT, Robinson H, Laatikainen T, Rautiainen P, Delemer B, Souchon PF, Diallo AM, Holl RW, Schmid SM, Raile K, Tigas S, Bargiota A, Zografou I, Luk AOY, Chan JCN, Dinneen SF, Buckley CM, Kgosidialwa O, Cherubini V, Gesuita R, Strele I, Pildava S, Veeze H, Aanstoot HJ, Mul D, Jefferies C, Cooper JG, Løvaas KF, Battelino T, Dovc K, Bratina N, Eeg-Olofsson K, Svensson AM, Gudbjornsdottir S, Globa E, Zelinska N. Prigge R, et al. Among authors: souchon pf. Diabet Med. 2022 May;39(5):e14766. doi: 10.1111/dme.14766. Epub 2021 Dec 26. Diabet Med. 2022. PMID: 34890078
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
Dard R, Herve B, Leblanc T, de Villartay JP, Collopy L, Vulliami T, Drunat S, Gorde S, Babik A, Souchon PF, Agadr A, Abilkassem R, Elalloussi M, Verloes A, Doco-Fenzy M. Dard R, et al. Among authors: souchon pf. Pediatr Allergy Immunol. 2017 May;28(3):298-303. doi: 10.1111/pai.12694. Epub 2017 Feb 22. Pediatr Allergy Immunol. 2017. PMID: 28039949 Review. No abstract available.
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
Cossiez Cacard MA, Coulombe J, Bernard P, Kaci N, Bressieux JM, Souchon PF, Motte J, Legeai-Mallet L, Hadj-Rabia S, Eschard C. Cossiez Cacard MA, et al. Among authors: souchon pf. J Eur Acad Dermatol Venereol. 2016 May;30(5):897-8. doi: 10.1111/jdv.13061. Epub 2015 Mar 24. J Eur Acad Dermatol Venereol. 2016. PMID: 25809207 No abstract available.
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: souchon pf. 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.
31 results