B Simon-Bouy
Overview
Explore the profile of B Simon-Bouy including associated specialties, affiliations and a list of published articles.
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Articles
60
Citations
573
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Recent Articles
1.
Simon-Bouy B, Caron O
Gynecol Obstet Fertil Senol
. 2017 Apr;
45(4):187-189.
PMID: 28359804
No abstract available.
2.
Dupont J, Simon-Bouy B, Zebina A, Pessione F, Royere D, Doco-Fenzy M
Gynecol Obstet Fertil Senol
. 2017 Mar;
45(3):152-157.
PMID: 28258854
Objective: The main objective of this study was to screen the prenatal follow-up of women with live birth trisomy 21 child in order to evaluate the proportion of prenatal screening...
3.
Simon-Bouy B, Serre J
Gynecol Obstet Fertil
. 2015 Mar;
43(4):263-5.
PMID: 25819389
No abstract available.
4.
Hu H, Haas S, Chelly J, Van Esch H, Raynaud M, de Brouwer A, et al.
Mol Psychiatry
. 2015 Feb;
21(1):133-48.
PMID: 25644381
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number...
5.
Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, et al.
Clin Genet
. 2013 Mar;
85(3):233-44.
PMID: 23489061
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to...
6.
Simon-Bouy B, Mornet E
Gynecol Obstet Fertil
. 2010 Jun;
38(7-8):435-8.
PMID: 20579924
No abstract available.
7.
Thauvin-Robinet C, Munck A, Huet F, Genin E, Bellis G, Gautier E, et al.
J Med Genet
. 2009 Nov;
46(11):752-8.
PMID: 19880712
Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability associated with certain mutations makes genetic counselling difficult, notably...
8.
Lia-Baldini A, Brun-Heath I, Carrion C, Simon-Bouy B, Serre J, Nunes M, et al.
Hum Genet
. 2008 Mar;
123(4):429-32.
PMID: 18340466
The dominant negative effect of mutations is rare in metabolic diseases and its mechanism has not been studied much. Hypophosphatasia, a bone inherited metabolic disorder, is a good model because...
9.
Yamamoto M, Molina-Gomes D, Girodon-Boulandet E, Moulis M, Leroy B, Simon-Bouy B, et al.
Prenat Diagn
. 2005 Dec;
26(1):6-8.
PMID: 16378323
We present a case of a fetus with hyperechogenic bowel, in which the L548Q mutation was detected in the mother of Japanese origin and the deltaF508 mutation in the father...
10.
Mornet E, Simon-Bouy B
Arch Pediatr
. 2004 May;
11(5):444-8.
PMID: 15135429
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical...