Sylvie Soskin
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Explore the profile of Sylvie Soskin including associated specialties, affiliations and a list of published articles.
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Articles
11
Citations
172
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0
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Recent Articles
1.
Rothenbuhler A, Gueorguieva I, Lichtenberger-Geslin L, Audrain C, Soskin S, Bensignor C, et al.
Patient Prefer Adherence
. 2023 Jun;
17:1393-1405.
PMID: 37325587
Purpose: X-linked hypophosphatemia (XLH) is a rare, chronic, genetic condition characterized by renal phosphate wasting and abnormal bone and teeth mineralization. It represents a challenging and multifaceted disease that causes...
2.
Bonnet E, Winter M, Mallet D, Plotton I, Bouvattier C, Cartigny M, et al.
Endocr Connect
. 2023 Jan;
12(3).
PMID: 36606580
Objectives: To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available....
3.
Meaux M, Harambat J, Rothenbuhler A, Leger J, Kamenicky P, Soskin S, et al.
J Clin Endocrinol Metab
. 2022 Nov;
108(4):812-826.
PMID: 36321535
Introduction: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disease associated with loss-of-function variations in the gene encoding the vitamin D-activating enzyme 1α-hydroxylase (CYP27B1). Phenotype-genotype correlation is unclear....
4.
El Allali Y, Hermetet C, Bacchetta J, Amouroux C, Rothenbuhler A, Porquet-Bordes V, et al.
Eur J Endocrinol
. 2020 Dec;
184(2):347-355.
PMID: 33361469
Aim: To describe the presenting features and molecular genetics of primary hyperparathyroidism (PHPT) in the paediatric population. Methods: Retrospective study of 63 children diagnosed with primary PHPT from 1998 to...
5.
Prasad M, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, et al.
J Med Genet
. 2015 Oct;
53(2):98-110.
PMID: 26502894
Background: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated...
6.
Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, et al.
Hum Mol Genet
. 2015 Feb;
24(11):3038-49.
PMID: 25669657
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short...
7.
Lambert A, Grybek V, Francou B, Esterle L, Bertrand G, Bouligand J, et al.
J Clin Endocrinol Metab
. 2014 Jan;
99(3):E469-73.
PMID: 24423332
Background: Except after neck surgery, hypoparathyroidism is a rare disease caused by defects in genes involved in parathyroid gland development (TBX1/22q11.2 del, GCMB, GATA3, TBCE) or function [calcium sensing receptor...
8.
Bache M, Dheu C, Doray B, Fothergill H, Soskin S, Paris F, et al.
Pediatr Nephrol
. 2009 Nov;
25(3):549-52.
PMID: 19921279
The diagnosis of Frasier syndrome is based on the association of male pseudohermaphroditism (as a result of gonadal dysgenesis), with steroid-resistant nephrotic syndrome due to focal and segmental glomerular sclerosis...
9.
Philibert P, Zenaty D, Lin L, Soskin S, Audran F, Leger J, et al.
Hum Reprod
. 2007 Oct;
22(12):3255-61.
PMID: 17940071
BACKGROUND Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis and reproduction. Recently, haploinsufficiency of SF1...
10.
Ladjouze A, Soskin S, Garel C, Jullien M, Naud-Saudreau C, Pinto G, et al.
Eur J Endocrinol
. 2007 Mar;
156(4):463-9.
PMID: 17389461
Context: GH deficiency (GHD) associated with central precocious puberty (CPP) has been widely reported in cases of arachnoid cyst, septo-optic dysplasia, brain tumors, or after cerebral radiation therapy. However, idiopathic...