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Year Number of Results
2009 2
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2011 1
2012 1
2013 1
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2016 3
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18 results

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Page 1
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: bensignor c. J Clin Endocrinol Metab. 2025 Sep 16;110(10):e3489-e3502. doi: 10.1210/clinem/dgaf004. J Clin Endocrinol Metab. 2025. PMID: 39787321
Young XLH Patients-Reported Experience with a Supportive Care Program.
Rothenbuhler A, Gueorguieva I, Lichtenberger-Geslin L, Audrain C, Soskin S, Bensignor C, Rossignol S, Bertholet-Thomas A, Naudeau L, Bacchetta J, Linglart A. Rothenbuhler A, et al. Among authors: bensignor c. Patient Prefer Adherence. 2023 Jun 9;17:1393-1405. doi: 10.2147/PPA.S391025. eCollection 2023. Patient Prefer Adherence. 2023. PMID: 37325587 Free PMC article.
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
Desch L, Marle N, Mosca-Boidron AL, Faivre L, Eliade M, Payet M, Ragon C, Thevenon J, Aral B, Ragot S, Ardalan A, Dhouibi N, Bensignor C, Thauvin-Robinet C, El Chehadeh S, Callier P. Desch L, et al. Among authors: bensignor c. Mol Cytogenet. 2015 Jun 25;8:42. doi: 10.1186/s13039-015-0151-6. eCollection 2015. Mol Cytogenet. 2015. PMID: 26110021 Free PMC article.
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, Baron S, Bensignor C, Brac De La Perriere A, Braik Djellas Y, Caillot M, Caldagues E, Campas MN, Caquard M, Cartault A, Cheignon J, Decrequy A, Delemer B, Dieckmann K, Donzeau A, Doye E, Fradin M, Gaudillière M, Gatelais F, Gorce M, Hazart I, Houcinat N, Houdon L, Ister-Salome M, Jozwiak L, Jeannoel P, Labarthe F, Lacombe D, Lambert AS, Lefevre C, Leheup B, Leroy C, Maisonneuve B, Marchand I, Marquant E, Muszlak M, Pantalone L, Pochelu S, Quelin C, Radet C, Renoult-Pierre P, Reynaud R, Rouleau S, Teinturier C, Thevenon J, Turlotte C, Valle A, Vierge M, Villanueva C, Ziegler A, Dieu X, Bouzamondo N, Rodien P, Prunier-Mirebeau D, Coutant R. Levaillant L, et al. Among authors: bensignor c. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e779-e788. doi: 10.1210/clinem/dgad119. J Clin Endocrinol Metab. 2023. PMID: 36884306 Free PMC article.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C. Malbos M, et al. Among authors: bensignor c. Clin Genet. 2024 May;105(5):555-560. doi: 10.1111/cge.14485. Epub 2024 Jan 29. Clin Genet. 2024. PMID: 38287449
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. Choleau C, et al. Diabetes Metab. 2014 Apr;40(2):137-42. doi: 10.1016/j.diabet.2013.11.001. Epub 2013 Dec 11. Diabetes Metab. 2014. PMID: 24332018
Endocrine management of transgender adolescents: Expert consensus of the french society of pediatric endocrinology and diabetology working group.
Brezin F, Busiah K, Leroy C, Fiot E, Bensignor C, Amouroux C, Caquard M, Cartault A, Castets S, Delcour C, Devernay M, Feigerlova E, Hoarau M, Lebon-Labich B, Lambert AS, Rouleau S, Trouvin MA, Vautier V, Martinerie L. Brezin F, et al. Among authors: bensignor c. Arch Pediatr. 2024 Nov 16:S0929-693X(24)00176-3. doi: 10.1016/j.arcped.2024.08.003. Online ahead of print. Arch Pediatr. 2024. PMID: 39551654 Free article.
18 results