C Turleau
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Explore the profile of C Turleau including associated specialties, affiliations and a list of published articles.
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Articles
157
Citations
1358
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Recent Articles
1.
Leroy C, Jacquemont M, Doray B, Lamblin D, Cormier-Daire V, Philippe A, et al.
Clin Genet
. 2015 Feb;
89(1):68-73.
PMID: 25677961
The Xq25 duplications syndrome has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected...
2.
Essaoui M, Nizon M, Beaujard M, Carrier A, Tantau J, de Blois M, et al.
Eur J Med Genet
. 2013 Jul;
56(9):502-5.
PMID: 23832107
Discordant chromosomal anomalies in monozygotic twins may be caused by various timing issues of erroneous mitosis and twinning events. Here, we report a prenatal diagnosis of heterokaryotypic monozygotic twins discordant...
3.
Rio M, Royer G, Gobin S, de Blois M, Ozilou C, Bernheim A, et al.
Clin Genet
. 2012 Oct;
84(1):31-6.
PMID: 23061379
Although discordant phenotypes in monozygotic twins with developmental disorder are not an exception, underlying genetic discordance is rarely reported. Here, we report on the clinical and cytogenetic details of 4-year-old...
4.
Malan V, Raoul O, Firth H, Royer G, Turleau C, Bernheim A, et al.
J Med Genet
. 2009 Jan;
46(9):635-40.
PMID: 19126570
Background: Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan-Diamond syndrome due to haploinsufficiency of the RPS19 gene. Such a...
5.
Malan V, de Blois M, PRIEUR M, Perrier-Waill M, Huguet-Nedjar C, Gegas L, et al.
Clin Genet
. 2007 Nov;
73(1):89-91.
PMID: 18042263
No abstract available.
6.
Malan V, Gesny R, Morichon-Delvallez N, Aubry M, Benachi A, Sanlaville D, et al.
Hum Reprod
. 2007 Feb;
22(4):1037-41.
PMID: 17272360
The phenotypic spectrum of 46,XX/46,XY chimeric patients is variable. It ranges from normal male or female genitalia to different degrees of ambiguous genitalia. Chimerism results from the amalgamation of two...
7.
Chaabouni M, Martinovic J, Sanlaville D, Attie-Bittach T, Caillat S, Turleau C, et al.
Eur J Med Genet
. 2006 Dec;
49(6):487-93.
PMID: 17142120
We report on the observation of an interstitial deletion of the long arm of chromosome 1 diagnosed prenatally in a 28 weeks gestation fetus by standard karyotype. Amniocentesis was performed...
8.
Malan V, Vekemans M, Turleau C
Clin Genet
. 2006 Oct;
70(5):363-73.
PMID: 17026615
The finding of a mixture of 46,XX and 46,XY cells in an individual has been rarely reported in literature. It usually results in individuals with ambiguous genitalia. Approximately 10% of...
9.
Sanlaville D, Lapierre J, Coquin A, Turleau C, Vermeesch J, Colleaux L, et al.
Arch Pediatr
. 2005 Sep;
12(10):1515-20.
PMID: 16153813
Chips technology has allowed to miniaturize process making possible to realize in one step and using the same device a lot of chemical reactions. The application of this technology to...
10.
Lapierre J, Sanlaville D, Kang J, Ozilou C, Le Lorch M, Waill M, et al.
Ann Biol Clin (Paris)
. 2004 Mar;
62(2):203-12.
PMID: 15047473
Comparative genomic hybridization on a microarray (microarray-CGH) allows to detect genomic chromosome imbalances. In order to assess its value to detect small chromosome imbalances observed in a clinical setting, using...