Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 30

1.

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.

Derouault P, Chauzeix J, Rizzo D, Miressi F, Magdelaine C, Bourthoumieu S, Durand K, Dzugan H, Feuillard J, Sturtz F, Mérillou S, Lia AS.

PLoS Comput Biol. 2020 Feb 12;16(2):e1007503. doi: 10.1371/journal.pcbi.1007503. eCollection 2020 Feb.

2.

Development of a Novel Orthotopic Primary Human Chordoma Xenograft Model: A Relevant Support for Future Research on Chordoma.

Salle H, Pocard M, Lehmann-Che J, Bourthoumieu S, Labrousse F, Pimpie C, Lemnos L, Guichard JP, Froelich S, Adle-Biassette H.

J Neuropathol Exp Neurol. 2020 Mar 1;79(3):314-324. doi: 10.1093/jnen/nlz121.

PMID:
31841164
3.

Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11.

Salardaine Q, Marquet V, Bourthoumieu S, Dauriat B, Dobrescu A, Yardin C.

Morphologie. 2019 Jun;103(341 Pt 2):116-121. doi: 10.1016/j.morpho.2019.02.002. Epub 2019 Mar 15.

PMID:
30885456
4.

Involvement of the enteroendocrine system in intestinal obstruction.

Ballouhey Q, Richard L, Fourcade L, Ben Rhaiem I, Vallat JM, Sturtz F, Bourthoumieu S.

PLoS One. 2017 Nov 1;12(11):e0186507. doi: 10.1371/journal.pone.0186507. eCollection 2017.

5.

Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation.

Marquet V, Bourthoumieu S, Dobrescu A, Laroche-Raynaud C, Yardin C.

Eur J Med Genet. 2017 Nov;60(11):583-588. doi: 10.1016/j.ejmg.2017.08.009. Epub 2017 Aug 12.

PMID:
28811188
6.

New Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation.

Faye PA, Vedrenne N, De la Cruz-Morcillo MA, Barrot CC, Richard L, Bourthoumieu S, Sturtz F, Funalot B, Lia AS, Battu S.

Anal Chem. 2016 Jul 5;88(13):6696-702. doi: 10.1021/acs.analchem.6b00704. Epub 2016 Jun 21.

PMID:
27263863
7.

Unusual isochromosome 5p marker chromosome.

Roulet-Coudrier F, Rouibi A, Thuillier C, Bourthoumieu S, Lebbar A, Dupont JM, Yardin C.

Am J Med Genet A. 2015 Feb;167A(2):455-9. doi: 10.1002/ajmg.a.36843. Epub 2014 Nov 25. No abstract available.

PMID:
25424187
8.

Neuroprotective effect of erythropoietin against pressure ulcer in a mouse model of small fiber neuropathy.

Danigo A, Magy L, Richard L, Desmoulière A, Bourthoumieu S, Funalot B, Demiot C.

PLoS One. 2014 Nov 25;9(11):e113454. doi: 10.1371/journal.pone.0113454. eCollection 2014.

9.

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.

Laffargue F, Bourthoumieu S, Llanas B, Baudouin V, Lahoche A, Morin D, Bessenay L, De Parscau L, Cloarec S, Delrue MA, Taupiac E, Dizier E, Laroche C, Bahans C, Yardin C, Lacombe D, Guigonis V.

Arch Dis Child. 2015 Mar;100(3):259-64. doi: 10.1136/archdischild-2014-306810. Epub 2014 Oct 16.

PMID:
25324567
10.

[Report of the ordinary general assembly of the Morphologists' Association].

Association des Morphologistes.

Morphologie. 2013 Oct-Dec;97(318-319):109-11. doi: 10.1016/j.morpho.2013.06.001. Epub 2013 Sep 26. French. No abstract available.

PMID:
24076400
11.

Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly?

Laffargue F, Bourthoumieu S, Bellanné-Chantelot C, Guigonis V, Yardin C.

Eur J Med Genet. 2013 Feb;56(2):93-7. doi: 10.1016/j.ejmg.2012.12.002. Epub 2012 Dec 20.

PMID:
23261960
12.

Study of p53 expression and post-transcriptional modifications after GSM-900 radiofrequency exposure of human amniotic cells.

Bourthoumieu S, Magnaudeix A, Terro F, Leveque P, Collin A, Yardin C.

Bioelectromagnetics. 2013 Jan;34(1):52-60. doi: 10.1002/bem.21744. Epub 2012 Jul 5.

PMID:
22767080
13.

Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.

Morris B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebbar A, Yardin C, Elsea SH.

Am J Med Genet A. 2012 Aug;158A(8):2015-20. doi: 10.1002/ajmg.a.35463. Epub 2012 Jun 29.

PMID:
22753018
14.

GSM-900MHz at low dose temperature-dependently downregulates α-synuclein in cultured cerebral cells independently of chaperone-mediated-autophagy.

Terro F, Magnaudeix A, Crochetet M, Martin L, Bourthoumieu S, Wilson CM, Yardin C, Leveque P.

Toxicology. 2012 Feb 26;292(2-3):136-44. doi: 10.1016/j.tox.2011.12.003. Epub 2011 Dec 13.

PMID:
22185909
15.

Are all cases of low-grade mosaic trisomy 13 in amniotic fluid with no fetal malformation in fact confined placental mosaicism? A case report.

Etoubleau C, Bourthoumieu S, Fiorenza M, Aubard V, Yardin C.

Morphologie. 2011 Dec;95(311):142-5. doi: 10.1016/j.morpho.2011.07.117. Epub 2011 Nov 10.

PMID:
22079601
16.

Aneuploidy studies in human cells exposed in vitro to GSM-900 MHz radiofrequency radiation using FISH.

Bourthoumieu S, Terro F, Leveque P, Collin A, Joubert V, Yardin C.

Int J Radiat Biol. 2011 Apr;87(4):400-8. doi: 10.3109/09553002.2011.542543. Epub 2011 Jan 19.

PMID:
21247240
17.

Cytogenetic studies in human cells exposed in vitro to GSM-900 MHz radiofrequency radiation using R-banded karyotyping.

Bourthoumieu S, Joubert V, Marin B, Collin A, Leveque P, Terro F, Yardin C.

Radiat Res. 2010 Dec;174(6):712-8. doi: 10.1667/RR2137.1. Epub 2010 Sep 20.

PMID:
21128794
18.

Familial 18 centromere variant resulting in difficulties in interpreting prenatal interphase FISH.

Bourthoumieu S, Esclaire F, Terro F, Brosset P, Fiorenza M, Aubard V, Beguet M, Yardin C.

Morphologie. 2010 Aug;94(306):68-72. doi: 10.1016/j.morpho.2010.02.016. Epub 2010 Mar 20.

PMID:
20304695
19.

1p19q LOH patterns and expression of p53 and Olig2 in gliomas: relation with histological types and prognosis.

Durand KS, Guillaudeau A, Weinbreck N, DeArmas R, Robert S, Chaunavel A, Pommepuy I, Bourthoumieu S, Caire F, Sturtz FG, Labrousse FJ.

Mod Pathol. 2010 Apr;23(4):619-28. doi: 10.1038/modpathol.2009.185. Epub 2010 Jan 15.

20.

First prenatally diagnosed case of 16p11.2p12.1 duplication.

Bourthoumieu S, Esclaire F, Terro F, Fiorenza M, Aubard V, Malan V, Romana S, Yardin C.

Prenat Diagn. 2008 Mar;28(3):254-6. doi: 10.1002/pd.1949. No abstract available.

PMID:
18241085

Supplemental Content

Loading ...
Support Center