R Touraine
Overview
Explore the profile of R Touraine including associated specialties, affiliations and a list of published articles.
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Articles
431
Citations
1033
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0
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Recent Articles
1.
Racine C, Callier P, Touraine R, Vitobello A, Hanna N, Arnaud P, et al.
Am J Med Genet A
. 2024 Nov;
197(4):e63923.
PMID: 39584374
Marfan syndrome (MFS) is a well-characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single-nucleotide variants (SNVs) in...
2.
Diesler R, Ahmad K, Chalabreysse L, Glerant J, Harzallah I, Touraine R, et al.
Rev Mal Respir
. 2023 Nov;
41(1):69-88.
PMID: 37951745
Multiple cystic lung diseases comprise a wide range of various diseases, some of them of genetic origin. Lymphangioleiomyomatosis (LAM) is a disease occurring almost exclusively in women, sporadically or in...
3.
Touraine R, Hauet Q, Harzallah I, Baruteau A
Arch Pediatr
. 2022 Dec;
29(5S):5S3-5S7.
PMID: 36585068
Tuberous sclerosis is an autosomal dominant disorder almost fully penetrant with highly variable expression. Most cases are de novo and this diagnosis is sometimes considered during prenatal life in case...
4.
Gousse G, Patural H, Touraine R, Chabrier S, Rolland E, Antoine J, et al.
Arch Pediatr
. 2017 Dec;
25(1):42-44.
PMID: 29248324
Progressive cerebellar ataxias are well-known hereditary neurological disorders. Among them, spinocerebellar ataxia type 7 (SCA7) is inherited as an autosomal dominant trait and is ascribed to the expansion of a...
5.
Baux D, Vache C, Blanchet C, Willems M, Baudoin C, Moclyn M, et al.
Sci Rep
. 2017 Dec;
7(1):16783.
PMID: 29196752
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of...
6.
Giraud A, Ramond F, Cremillieux C, Touraine R, Patural H, Stephan J
Arch Pediatr
. 2016 Dec;
24(2):131-134.
PMID: 28007512
ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi...
7.
El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, et al.
Clin Genet
. 2016 Oct;
91(4):576-588.
PMID: 27761913
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic...
8.
Ramond F, Janin A, Di Filippo S, Chanavat V, Chalabreysse L, Roux-Buisson N, et al.
Clin Genet
. 2016 Apr;
91(1):126-130.
PMID: 27030002
Left ventricular noncompaction cardiomyopathy (LVNC) is a clinically heterogeneous disorder characterized by a trabecular meshwork and deep intertrabecular myocardial recesses that communicate with the left ventricular cavity. Several genetic causes...
9.
Furby A, Vicart S, Camdessanche J, Fournier E, Chabrier S, Lagrue E, et al.
Neuromuscul Disord
. 2014 Aug;
24(11):953-9.
PMID: 25088311
Nondystrophic myotonias are characterized by muscle stiffness triggered by voluntary movement. They are caused by mutations in either the CLCN1 gene in myotonia congenita or in the SCN4A gene in...
10.