Sylvain Hanein
Overview
Explore the profile of Sylvain Hanein including associated specialties, affiliations and a list of published articles.
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Articles
55
Citations
1734
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Recent Articles
1.
Bal E, Park H, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, et al.
Nat Med
. 2025 Feb;
PMID: 39915680
No abstract available.
2.
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...
3.
Brakta C, Tabet A, Puel M, Pacault M, Stolzenberg M, Goudet C, et al.
J Clin Immunol
. 2024 Nov;
45(1):46.
PMID: 39578275
Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune...
4.
Pingault V, Neiva-Vaz C, de Oliveira J, Martinez-Gil N, Lasa-Aranzasti A, Campos B, et al.
Eur J Hum Genet
. 2024 Sep;
33(1):131-136.
PMID: 39333427
Oculo-auriculo-vertebral spectrum (OAVS) is characterized by abnormal development of the 1st and 2nd branchial arches. Despite arguments against a monogenic condition, a few genes have been involved in a minority...
5.
Moya R, Angee C, Hanein S, Jabot-Hanin F, Kaplan J, Perrault I, et al.
Int J Mol Sci
. 2024 Jun;
25(11).
PMID: 38892339
Leber congenital amaurosis (LCA)/early-onset severe retinal dystrophy (EOSRD) stand as primary causes of incurable childhood blindness. This study investigates the clinical and molecular architecture of syndromic and non-syndromic LCA/EOSRD within...
6.
Rodari M, Cazals-Hatem D, Uzzan M, Martin Silva N, Khiat A, Ta M, et al.
J Clin Immunol
. 2023 May;
43(6):1403-1413.
PMID: 37156989
Purpose: Hyper activation of the JAK-STAT signaling underlies the pathophysiology of many human immune-mediated diseases. Herein, the study of 2 adult patients with SOCS1 haploinsufficiency illustrates the severe and pleomorphic...
7.
Stoupa A, Al Hage Chehade G, Chaabane R, Kariyawasam D, Szinnai G, Hanein S, et al.
Front Endocrinol (Lausanne)
. 2021 Mar;
11:545339.
PMID: 33692749
Objective: To elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS). Study Design: We studied 19...
8.
Perrault I, Hanein S, Gerard X, Mounguengue N, Bouyakoub R, Zarhrate M, et al.
Genes (Basel)
. 2021 Mar;
12(2).
PMID: 33670832
Leber congenital amaurosis (LCA) encompasses the earliest and most severe retinal dystrophies and can occur as a non-syndromic or a syndromic disease. Molecular diagnosis in LCA is of particular importance...
9.
Charbit-Henrion F, Parlato M, Hanein S, Duclaux-Loras R, Nowak J, Begue B, et al.
J Crohns Colitis
. 2020 Sep;
15(3):517-518.
PMID: 32895718
No abstract available.
10.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, et al.
J Allergy Clin Immunol
. 2020 Jun;
147(2):734-737.
PMID: 32531373
No abstract available.