S Manouvrier
Overview
Explore the profile of S Manouvrier including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
38
Citations
417
Followers
0
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Recent Articles
1.
Bohet M, Besson R, Jardri R, Manouvrier S, Catteau-Jonard S, Cartigny M, et al.
J Pediatr Urol
. 2019 May;
15(4):356-366.
PMID: 31133504
Healthcare recommendations for people with disorders of sexual development (DSDs) include mental health attention and active participation of psychiatrists and psychologists in dedicated multidisciplinary teams. Therefore, it seems crucial for...
2.
Colson C, Aubry E, Cartigny M, Remy A, Franquet H, Leroy X, et al.
Clin Genet
. 2016 Dec;
92(1):99-103.
PMID: 28032338
Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to...
3.
Avila M, Dyment D, Sagen J, St-Onge J, Moog U, Chung B, et al.
Clin Genet
. 2015 Oct;
89(4):501-506.
PMID: 26497935
SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More...
4.
Maillard F, Manouvrier S, Biardeau X, Ouzzane A, Villers A
Prog Urol
. 2015 Feb;
25(5):225-32.
PMID: 25640028
Introduction: The association between Lynch syndrome and prostate cancer has been studied. Recent studies report an association between these two diseases. Material And Methods: Literature review based on PubMed search...
5.
Desmyter L, Ghassibe M, Revencu N, Boute O, Lees M, Francois G, et al.
Mol Syndromol
. 2010 Nov;
1(2):67-74.
PMID: 21045959
Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated...
6.
Bonnet C, Andrieux J, Beri-Dexheimer M, Leheup B, Boute O, Manouvrier S, et al.
J Med Genet
. 2010 Jun;
47(6):377-84.
PMID: 20522426
BACKGROUND Genome-wide screening of large patient cohorts with mental retardation using microarray-based comparative genomic hybridisation (array-CGH) has recently led to identification several novel microdeletion and microduplication syndromes. METHODS Owing to...
7.
Bonneau D, Marlin S, Sanlaville D, Dupont J, Sobol H, Gonzales M, et al.
Pathol Biol (Paris)
. 2010 Feb;
58(5):396-401.
PMID: 20116936
This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3)...
8.
Vega H, Trainer A, Gordillo M, Crosier M, Kayserili H, Skovby F, et al.
J Med Genet
. 2009 Jul;
47(1):30-7.
PMID: 19574259
Background: Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described...
9.
Fantini C, Pedinielli J, Manouvrier S
Encephale
. 2007 Aug;
33(2):117-23.
PMID: 17675906
Unlabelled: Introduction. The development of a DNA based diagnostic test has allowed for the genetic screening of many hereditary diseases. In addition to the identification of the deleterious gene, this...
10.
Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, et al.
J Med Genet
. 2007 May;
44(8):537-40.
PMID: 17468296
Background: Smith-Magenis syndrome (SMS) is rare (prevalence 1 in 25 000) and is associated with psychomotor delay, a particular behavioural pattern and congenital anomalies. SMS is often due to a...