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Pierre-Francois Souchon

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Articles 13
Citations 212
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Recent Articles
1.
Stoupa A, Kariyawasam D, Jabot-Hanin F, Quoc A, Hanein S, Rabeony T, et al.
J Clin Endocrinol Metab . 2025 Jan; PMID: 39787321
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex. Objectives: Gain insight...
2.
Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp E, Saugier-Veber P, Fabien N, et al.
J Clin Endocrinol Metab . 2024 Apr; 110(3):e757-e773. PMID: 38605470
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome is a rare disease caused by biallelic mutations of the AIRE gene, usually presenting with the triad hypoparathyroidism-adrenal failure-chronic mucocutaneous candidiasis (CMC) and nonendocrine manifestations....
3.
Giabicani E, Willems M, Steunou V, Chantot-Bastaraud S, Thibaud N, Habib W, et al.
J Med Genet . 2019 Oct; 57(3):160-168. PMID: 31586944
Background: The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying...
4.
Diallo A, Novella J, Lukas C, Souchon P, Drame M, Francois M, et al.
J Diabetes Complications . 2018 Jul; 32(8):753-758. PMID: 29980433
Aims: To determine the relationship between early markers of diabetes control and diabetic retinopathy (DR) in type 1 diabetes. Methods: A historic cohort study was conducted on 712 patients from...
5.
Dard R, Herve B, Leblanc T, de Villartay J, Collopy L, Vulliami T, et al.
Pediatr Allergy Immunol . 2017 Jan; 28(3):298-303. PMID: 28039949
No abstract available.
6.
Roucher-Boulez F, Mallet-Motak D, Samara-Boustani D, Jilani H, Ladjouze A, Souchon P, et al.
Eur J Endocrinol . 2016 May; 175(1):73-84. PMID: 27129361
Objective: Nicotinamide nucleotide transhydrogenase (NNT), one of the several genes recently discovered in familial glucocorticoid deficiencies (FGD), is involved in reactive oxygen species detoxification, suggesting that extra-adrenal manifestations may occur,...
7.
Jaisson S, Souchon P, Desmons A, Salmon A, Delemer B, Gillery P
J Pediatr . 2016 Mar; 172:56-62. PMID: 26947567
Objectives: To quantify serum advanced glycation end-products (AGEs) at the onset of type 1 diabetes mellitus and to determine their potential usefulness as retrospective indicators of glycemic balance. Study Design:...
8.
Landais E, Leroy C, Kleinfinger P, Brunet S, Koubi V, Pietrement C, et al.
Am J Med Genet A . 2015 Apr; 167(6):1275-84. PMID: 25900228
Familial transmission of chromosome 6 duplications is rare. We report on the first observation of a maternally-inherited pure segmental 6q duplication split into two segments, 6q15q16.3 and 6q16.3q21, and associated...
9.
Salenave S, Ancelle D, Bahougne T, Raverot G, Kamenicky P, Bouligand J, et al.
J Clin Endocrinol Metab . 2014 Dec; 100(3):1177-86. PMID: 25532043
Background: Pituitary adenomas are rare in children and adolescents. The response of macroprolactinomas to dopamine agonists (DA) in this age group has been less extensively studied than in adults. Objective:...
10.
Brue T, Quentien M, Khetchoumian K, Bensa M, Capo-Chichi J, Delemer B, et al.
BMC Med Genet . 2014 Dec; 15:139. PMID: 25524009
Background: DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with ACTH and variable immunodeficiency. A...