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2315

2009

Hussein Mouawia, Jean-Philippe Jaïs, Alexandra Benachi, Ali Saker, Jean-Paul Bonnefont, Bernard Lacour, Patrizia Paterlini-Bréchot

Phase III clinical validation of a non-invasive strategy for prenatal diagnosis of spinal muscular atrophy and cystic fibrosis through the genetic analysis of circulating trophoblastic cells. (Submitted)

Background. Chorionic-villous sampling (CVS), the procedure of choice for prenatal diagnosis of Spinal Muscular Atrophy (SMA) and Cystic Fibrosis (CF), generates a miscarriage rate of...

spécialisé / hard / difícil

2316

2009

Patrizia Paterlini-Bréchot, Hussein Mouawia, Laurence Bussières, Jean-Philippe Jaïs, René Frydman

Trophoblastic cells start to circulate early during gestation and are stably detectable during the first trimester of pregnancy. (Submitted)

spécialisé / hard / difícil

2054

2007

Patrizia Paterlini-Brechot, Naoual Linda Benali

Circulating tumor cells (CTC) detection: Clinical impact and future directions. Cancer Letters, Volume 253, Issue 2, Pages 180-204.

Recent molecular and clinical studies have shown that invasion may occur very early in tumor development, thus emphasizing the potential importance of specific and sensitive...

spécialisé / hard / difícil

dx.doi.org/10.1016/j...

2055

2006

Ali Saker, Alexandra Benachi, Jean Paul Bonnefont, Arnold Munnich, Yves Dumez, Bernard Lacour, Patrizia Paterlini-Brechot

Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis. Prenat Diagn 2006; 26: 906–916.

Objectives Cystic fibrosis (CF) is an autosomal recessive disease due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The purpose of this...

spécialisé / hard / difícil

dx.doi.org/10.1002/p...

2324

2004

Giovanna Vona, Laurence Estepa, Christophe Béroud, Diane Damotte, Frédérique Capron, Bertrand Nalpas, Alexandra Mineur, Dominique Franco, Bernard Lacour, Stanislas Pol, Christian Bréchot, Patrizia Paterlini-Bréchot

Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer. Hepatology. Volume 39 Issue 3, Pages 792-797

The clinical impact of circulating tumor cell (CTC) detection is controversial, mainly due to drawbacks of molecular approaches applied to this field. We sought to...

spécialisé / hard / difícil

dx.doi.org/10.1002/h...

2053

2003

C Béroud, M Karliova, J P Bonnefont, A Benachi, A Munnich, Y Dumez, B Lacour, P Paterlini-Bréchot

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells. Lancet 2003; 361: 1013–14

Spinal muscular atrophy (SMA) has a prevalence of one in 6000 births and a one in 40 heterozygote frequency. We aimed to develop a routine...

spécialisé / hard / difícil

linkinghub.elsevier....

2056

2002

Giovanna Vona, Christophe Béroud, Alexandra Benachi, Alice Quenette, Jean Paul Bonnefont, Serge Romana, Arnold Munnich, Michel Vekemans, Yves Dumez, Bernard Lacour, Patrizia Paterlini-Bréchot

Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood. American Journal of Pathology, Vol. 160, No. 1, January 2002:51–58.

Fetal cells circulating in the peripheral blood of pregnant women are a potential target for noninvasive genetic analyses. They include epithelial (trophoblastic) cells, which are...

spécialisé / hard / difícil

www.pubmedcentral.ni...

2057

2000

Giovanna Vona, Abdelmajid Sabile, Malek Louha, Veronique Sitruk, Serge Romana, Karin Schü tze, Frédérique Capron, Dominique Franco,Mario Pazzagli, Michel Vekemans, Bernard Lacour, Christian Bréchot, Patrizia Paterlini-Bréchot

Isolation by Size of Epithelial Tumor Cells: A New Method for the Immunomorphological and Molecular Characterization of Circulating Tumor Cells. American Journal of Pathology, Vol. 156, No. 1, January 2000: 57–63.

We have developed a new assay, ISET (isolation by size of epithelial tumor cells), which allows the counting and the immunomorphological and molecular characterization of...

spécialisé / hard / difícil

ajp.amjpathol.org/cg...

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