Search Results - "Girardet, Anne"

Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT) by Brouillet, Sophie, Mereuze, Sandie, Ranisavljevic, Noémie, Chauveau, Claire, Hamamah, Samir, Cattin, Julie, Verebi, Camille, Cabrol, Christelle, Ishmukhametova, Aliya, Girardet, Anne, Anahory, Tal, Willems, Marjolaine

“…Preimplantation genetic testing (PGT) is widely used to select unaffected embryos, increasing the odds of having a healthy baby. During the last few decades,…”
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UV/Vis Characterization and Fate of Organic Amendment Fractions in a Dune Soil in Dakar, Senegal by DAOUK, Silwan, HASSOUNA, Mohammad, GUEYE-GIRARDET, Anne, NIANG, Seydou, PFEIFER, Hans-Rudolf

“…The application of organic amendments on soils poor in organic matter （OM） can improve long-term soil fertility, but may also enhance the mineralization of…”
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A Powerful and Universal Preimplantation Genetic Diagnosis Protocol for Cystic Fibrosis by Viart, Victoria, Ishmukhametova, Aliya, Plaza, Stéphanie, Verrière, Garance, Saguet, Florielle, Claustres, Mireille, Girardet, Anne

“…Background: Cystic fibrosis (CF) is one of the most common indications of preimplantation genetic diagnosis (PGD) for monogenic disorders worldwide. Aims: The…”
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Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy by Girardet, Anne, Ph.D, Fernandez, Céline, B.Sc, Claustres, Mireille, M.D., Ph.D

“…Objective To develop and apply efficient multiplex preimplantation genetic diagnosis (PGD) protocols for spinal muscular atrophy (SMA). Design Two multiplex…”
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Large genomic rearrangements in the CFTR gene contribute to CBAVD by Taulan, Magali, Girardet, Anne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Beroud, Christophe, des Georges, Marie, Claustres, Mireille

“…By performing extensive scanning of whole coding and flanking sequences of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, we had…”
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Evolution of post–pulmonary vein isolation atrial fibrillation inducibility at redo ablation: Electrophysiological evidence of extra–pulmonary vein substrate progression by Johner, Nicolas, Shah, Dipen C., Giannakopoulos, Georgios, Girardet, Anne, Namdar, Mehdi

“…The electrophysiological substrate underlying atrial fibrillation (AF) progression remains difficult to identify. The goals of this study were to study the…”
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Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing? by Ranisavljevic, Noemie, Hess, Mathilde, Castelli, Christel, Willems, Marjolene, Ferrieres-Hoa, Alice, Girardet, Anne, Anahory, Tal

“…Purpose To assess if the ovarian response of FMR1 premutated women undergoing preimplantation genetic testing (PGT) for Fragile X syndrome is lower compared…”
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Germline mosaicism is a pitfall in PGD for X‐linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin by Viart, Victoria, Willems, Marjolaine, Ishmukhametova, Aliya, Dufernez, Fabienne, Anahory, Tal, Hamamah, Samir, Schmitt, Sébastien, Claustres, Mireille, Girardet, Anne

“…This manuscript presents a molecularly demonstrated gonadal mosaicism from paternal origin for X‐linked dominant chondrodysplasia punctata by single sperm…”
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Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service by Girardet, Anne, Ishmukhametova, Aliya, Viart, Victoria, Plaza, Stéphanie, Saguet, Florielle, Verriere, Garance, Hamamah, Samir, Coupier, Isabelle, Haquet, Emmanuelle, Anahory, Tal, Willems, Marjolaine, Claustres, Mireille

“…This study provides an overview of preimplantation genetic diagnosis (PGD) for single gene diseases and the management of expanding indications in the context…”
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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus by Girardet, Anne, Viart, Victoria, Plaza, Stéphanie, Daina, Gemma, De Rycke, Martine, Des Georges, Marie, Fiorentino, Francesco, Harton, Gary, Ishmukhametova, Aliya, Navarro, Joaquima, Raynal, Caroline, Renwick, Pamela, Saguet, Florielle, Schwarz, Martin, SenGupta, Sioban, Tzetis, Maria, Roux, Anne-Françoise, Claustres, Mireille

“…Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the…”
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Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin: Parental origin of gonadal mosaicism reassessed by single sperm typing by Viart, Victoria, Willems, Marjolaine, Ishmukhametova, Aliya, Dufernez, Fabienne, Anahory, Tal, Hamamah, Samir, Schmitt, Sébastien, Claustres, Mireille, Girardet, Anne

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Cervical cancer screening in low-resource settings: a smartphone image application as an alternative to colposcopy by Gallay, Caroline, Girardet, Anne, Viviano, Manuela, Catarino, Rosa, Benski, Anne-Caroline, Tran, Phuong Lien, Ecabert, Christophe, Thiran, Jean-Philippe, Vassilakos, Pierre, Petignat, Patrick

“…Visual inspection after application of acetic acid (VIA) and Lugol's iodine (VILI) is a cervical cancer (CC) screening approach that has recently been adopted…”
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A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis by Guissart, Claire, Tran Mau Them, Frédéric, Debant, Vanessa, Viart, Victoria, Dubucs, Charlotte, Pritchard, Victoria, Rouzier, Cécile, Boureau-Wirth, Amandine, Haquet, Emmanuelle, Puechberty, Jacques, Bieth, Eric, Khau Van Kien, Philippe, Brechard, Marie-Pierre, Raynal, Caroline, Girardet, Anne, Claustres, Mireille, Koenig, Michel, Vincent, Marie-Claire

“…Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set…”
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Efficiency of Primed In Situ Labeling (PRINS) Method for Interphasic Chromosomal Screening: a Review by Pellestor, Franck, Girardet, Anne, Andréo, Brigitte

“…The advent of molecular genetic techniques has brought forth new procedures for in situ chromosomal analysis. One of these techniques is the primed in situ…”
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New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination? by BARAT-HOUARI, Mouna, NGUYEN, Karine, ATTARIAN, Shahram, POUGET, Jean, GIRARDET, Anne, LEVY, Nicolas, CLAUSTRES, Mireille, BERNARD, Rafaëlle, FERNANDEZ, Céline, VOVAN, Catherine, BAREIL, Corinne, KHAU VAN KIEN, Philippe, THOREL, Delphine, TUFFERY-GIRAUD, Sylvie, VASSEUR, Francis

“…Molecular pathophysiology of facioscapulohumeral muscular dystrophy (FSHD) involves the heterozygous contraction of the number of tandemly repeated D4Z4 units…”
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Dispersion of natural arsenic in the Malcantone watershed, Southern Switzerland: field evidence for repeated sorption–desorption and oxidation–reduction processes by Pfeifer, Hans-Rudolf, Gueye-Girardet, Anne, Reymond, Damien, Schlegel, Catherine, Temgoua, Emile, Hesterberg, Dean L., Chou, Jeff Weiqing

“…In recent years, elevated arsenic concentrations have been found in waters and soils of many countries, often resulting in a health threat for the local…”
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Short Communication: Rapid Detection of the ΔF508 Mutation in Single Cells Using DHPLC: Implications for Preimplantation Genetic Diagnosis by Girardet, Anne, Cathala, Philippe, Claustres, Mireille

“…Purpose: Practice of preimplantation genetic diagnosis (PGD) requires efficient amplification and analysis techniques. We have tested Denaturing High…”
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Short Communication: Rapid detection of the [Delta]F508 mutation in single cells using DHPLC: Implications for preimplantation genetic diagnosis by Girardet, Anne, Cathala, Philippe, Claustres, Mireille

“…Practice of preimplantation genetic diagnosis (PGD) requires efficient amplification and analysis techniques. We have tested Denaturing High Performance Liquid…”
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Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis by Girardet, Anne, Cathala, Philippe, Claustres, Mireille

“…Practice of preimplantation genetic diagnosis (PGD) requires efficient amplification and analysis techniques. We have tested Denaturing High Performance Liquid…”
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Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene by Girardet, A, Moncla, A, Hamamah, S, Claustres, M

“…Angelman syndrome (AS) is a neurodevelopmental disorder associated with the loss of maternal gene expression in chromosome region 15q11-q13. AS is caused by a…”
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