Search Results - "Monteil, Laetitia"

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1 by Mangin, Antoine, de Pontual, Laure, Tsai, Yu-Chih, Monteil, Laetitia, Nizon, Mathilde, Boisseau, Pierre, Mercier, Sandra, Ziegle, Janet, Harting, John, Heiner, Cheryl, Gourdon, Geneviève, Tomé, Stéphanie

“…Myotonic dystrophy type 1 (DM1) is the most complex and variable trinucleotide repeat disorder caused by an unstable CTG repeat expansion, reaching up to 4000…”
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Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule by Cayrefourcq, Laure, Vincent, Marie-Claire, Pierredon, Sandra, Moutou, Céline, Imbert-Bouteille, Marion, Haquet, Emmanuelle, Puechberty, Jacques, Willems, Marjolaine, Liautard-Haag, Cathy, Molinari, Nicolas, Zordan, Cécile, Dorian, Virginie, Rooryck-Thambo, Caroline, Goizet, Cyril, Chaussenot, Annabelle, Rouzier, Cécile, Boureau-Wirth, Amandine, Monteil, Laetitia, Calvas, Patrick, Miry, Claire, Favre, Romain, Petrov, Yuliya, Khau Van Kien, Philippe, Le Boette, Elsa, Fradin, Mélanie, Alix-Panabières, Catherine, Guissart, Claire

“…Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing…”
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Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens by Patat, Olivier, Pagin, Adrien, Siegfried, Aurore, Mitchell, Valérie, Chassaing, Nicolas, Faguer, Stanislas, Monteil, Laetitia, Gaston, Véronique, Bujan, Louis, Courtade-Saïdi, Monique, Marcelli, François, Lalau, Guy, Rigot, Jean-Marc, Mieusset, Roger, Bieth, Eric

“…In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the…”
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Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non‐azoospermic by Mieusset, Roger, Bieth, Eric, Daudin, Myriam, Isus, Francois, Delaunay, Boris, Bujan, Louis, Monteil, Laetitia, Fauquet, Isabelle, Huyghe, Eric, Hamdi, Safouane M.

“…Background Men with congenital unilateral absence of vas deferens were reported to be mainly azoospermic, with both unilateral renal absence and mutations in…”
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The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling by Mieusset, Roger, Fauquet, Isabelle, Chauveau, Dominique, Monteil, Laetitia, Chassaing, Nicolas, Daudin, Myriam, Huart, Antoine, Isus, François, Prouheze, Cathy, Calvas, Patrick, Bieth, Eric, Bujan, Louis, Faguer, Stanislas

“…Background While reproductive technologies are increasingly used worldwide, epidemiologic, clinical and genetic data regarding infertile men with combined…”
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Sperm aneuploidy and DNA fragmentation in unexplained recurrent pregnancy loss: a multicenter case-control study by Esquerré-Lamare, Camille, Walschaerts, Marie, Chansel Debordeaux, Lucie, Moreau, Jessika, Bretelle, Florence, Isus, François, Karsenty, Gilles, Monteil, Laetitia, Perrin, Jeanne, Papaxanthos-Roche, Aline, Bujan, Louis

“…Recurrent pregnancy loss (RPL) is defined as the loss of at least three pregnancies in the first trimester. Although the most common cause is embryo…”
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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach by Liautard-Haag, C., Durif, G., VanGoethem, C., Baux, D., Louis, A., Cayrefourcq, L., Lamairia, M., Willems, M., Zordan, C., Dorian, V., Rooryck, C., Goizet, C., Chaussenot, A., Monteil, L., Calvas, P., Miry, C., Favre, R., Le Boette, E., Fradin, M., Roux, A. F., Cossée, M., Koenig, M., Alix-Panabière, C., Guissart, C., Vincent, M. C.

“…The field of noninvasive prenatal diagnosis (NIPD) has undergone significant progress over the last decade. Direct haplotyping has been successfully applied…”
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Evaluation of the template letter regarding the disclosure of genetic information within the family in France by Zordan, Cécile, Monteil, Laetitia, Haquet, Emmanuelle, Cordier, Christophe, Toussaint, Eva, Roche, Pauline, Dorian, Virginie, Maillard, Aline, Lhomme, Edouard, Richert, Laura, Pasquier, Laurent, Akloul, Linda, Taris, Nicolas, Lacombe, Didier

“…The 2011 French Bioethics Law regarding disclosure of genetic information within families enables health professionals to notify any at-risk relatives…”
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Sperm aneuploidy and DNA fragmentation in unexplained recurrent pregnancy loss: a multicenter case-control study by Camille Esquerré-Lamare, Marie Walschaerts, Lucie Chansel Debordeaux, Jessika Moreau, Florence Bretelle, François Isus, Gilles Karsenty, Laetitia Monteil, Jeanne Perrin, Aline Papaxanthos-Roche, Louis Bujan

“…Résumé Contexte Les fausses couches à répétition (FCR) sont définies lorsqu’au moins trois fausses couches ont eu lieu au cours du premier trimestre. Bien que…”
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