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9 results on '"Boughalem, Aicha"'

1. RAS activation induces synthetic lethality of MEK inhibition with mitochondrial oxidative metabolism in acute myeloid leukemia

Author

Decroocq, Justine, Birsen, Rudy, Montersino, Camille, Chaskar, Prasad, Mano, Jordi, Poulain, Laury, Friedrich, Chloe, Alary, Anne-Sophie, Guermouche, Helene, Sahal, Ambrine, Fouquet, Guillemette, Gotanègre, Mathilde, Simonetta, Federico, Mouche, Sarah, Gestraud, Pierre, Lescure, Auriane, Del Nery, Elaine, Bosc, Claudie, Grenier, Adrien, Mazed, Fetta, Mondesir, Johanna, Chapuis, Nicolas, Ho, Liza, Boughalem, Aicha, Lelorc’h, Marc, Gobeaux, Camille, Fontenay, Michaela, Recher, Christian, Vey, Norbert, Guillé, Arnaud, Birnbaum, Daniel, Hermine, Olivier, Radford-Weiss, Isabelle, Tsantoulis, Petros, Collette, Yves, Castellano, Rémy, Sarry, Jean-Emmanuel, Pasmant, Eric, Bouscary, Didier, Kosmider, Olivier, and Tamburini, Jerome

Published
2022
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2. Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine

Author

Yauy, Kevin, Lecoquierre, François, Baert-Desurmont, Stéphanie, Trost, Detlef, Boughalem, Aicha, Luscan, Armelle, Costa, Jean-Marc, Geromel, Vanna, Raymond, Laure, Richard, Pascale, Coutant, Sophie, Broutin, Mélanie, Lanos, Raphael, Fort, Quentin, Cackowski, Stenzel, Testard, Quentin, Diallo, Abdoulaye, Soirat, Nicolas, Holder, Jean-Marc, Duforet-Frebourg, Nicolas, Bouge, Anne-Laure, Beaumeunier, Sacha, Bertrand, Denis, Audoux, Jerome, Genevieve, David, Mesnard, Laurent, Nicolas, Gael, Thevenon, Julien, and Philippe, Nicolas

Published
2022
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3. Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Author

Favier, Maud, Brischoux‐Boucher, Elise, Pyle, Louise C., Mottet, Nicolas, Auber‐Lenoir, Marion, Cattin, Julie, Dahlen, Eric, Cabrol, Christelle, Arbez‐Gindre, Francine, Attié‐Bitach, Tania, Boute, Odile, Devisme, Louise, Trost, Detlef, Boughalem, Aicha, Chitayat, David, Prasov, Lev, Chorin, Odelia, Rein‐Rothschild, Annick, Kassif, Eran, and Weissbach, Tal

Abstract

Purpose: MYRF‐related cardiac‐urogenital syndrome (MYRF‐CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF‐CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF‐CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant. Methods: Detailed radiographic, pathological, clinical, and molecular data from 12 prenatal cases were collected through an international collaborative study. Adding the five fetuses previously published, we were able to study a cohort of 17 cases. Results: Main ultrasound‐accessible manifestations of MYRF‐CUGS include congenital heart defects (13/17, 76%), congenital diaphragmatic hernia (10/17, 59%) and disorders of sexual differentiation in 46, XY fetuses (7/14; 50%). Postnatal examination and/or autopsy data highlighted additional birth defects and neurological findings with a large spectrum of severity. Molecular results revealed ten previously unpublished variants, one missense and nine predicted truncating variants (three frameshift, three nonsense and three splice site variants). Conclusion: We report the first prenatal cohort of MYRF‐CUGS, allowing us to further characterize the variable expressivity of this rare disorder in fetuses. Severe congenital anomalies with a poor prognosis are more frequent than previously described in postnatal cases. Our data suggest that MYRF‐CUGS is characterized by a recurrent recognizable malformative association, accessible to prenatal diagnosis, with a significant intrafamilial phenotypic variability making genetic counseling challenging. [ABSTRACT FROM AUTHOR]

Published
2024
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4. P612: Application of prenatal exome sequencing in fetuses with multiple congenital sonographic abnormalities: A report of three cases

Author

Huynh, Minh-Tuan, primary, Potel, Stéphanie, additional, Degre, Sophie, additional, Panchout, Anne, additional, Bréon, Cathy, additional, Trost, Detlef, additional, Proust, Alexis, additional, Bouligand, Jérôme, additional, Bréhin, Anne-Claire, additional, Patrier-Sallebert, Sophie, additional, and Boughalem, Aicha, additional

Published
2023
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6. Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

Author

Kleinfinger, Pascale, Brechard, Marie, Luscan, Armelle, Trost, Detlef, Boughalem, Aicha, Mylene Valduga, Serero DR, Stéphane, Costa, Jean-Marc, and Lohmann, Laurence

Subjects
Genetics, Molecular Medicine, Genetics (clinical)
Abstract

A supernumerary marker chromosome (SMC) is a structurally abnormal chromosome that cannot be characterized by conventional banding cytogenetics. Marker chromosomes are present in 0.075% of prenatal cases. They are associated with variable phenotypes, ranging from normal to severely abnormal, and the prognosis is largely dependent on the results of further cytogenomic analysis. Here, we report the identification and characterization of a marker chromosome following prenatal screening in a 39-year-old pregnant patient. The patient had a normal first trimester ultrasound but was high-risk for fetal chromosome anomalies based on the results of maternal serum parameters. Chorionic villus sampling was performed, and analysis of chorionic villi revealed the presence of two identical marker chromosomes. In the interest of a rapid identification of the markers, we performed noninvasive prenatal testing (NIPT) together with chorionic villus sampling. A pericentromeric 29 Mb duplication of chromosome 20: dup (20) (p13q11.21) was identified and thereafter confirmed by targeted metaphasic FISH. Whole-genome sequencing-based NIPT was instrumental in rapid characterization of the SMCs and allowed us to obviate the need for multiple expensive and time-consuming FISH analyses.

Published
2022
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7. Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine

Author

Yauy, Kevin, primary, Lecoquierre, François, additional, Baert-Desurmont, Stéphanie, additional, Trost, Detlef, additional, Boughalem, Aicha, additional, Luscan, Armelle, additional, Costa, Jean-Marc, additional, Geromel, Vanna, additional, Raymond, Laure, additional, Richard, Pascale, additional, Coutant, Sophie, additional, Broutin, Mélanie, additional, Lanos, Raphael, additional, Fort, Quentin, additional, Cackowski, Stenzel, additional, Testard, Quentin, additional, Diallo, Abdoulaye, additional, Soirat, Nicolas, additional, Holder, Jean-Marc, additional, Duforet-Frebourg, Nicolas, additional, Bouge, Anne-Laure, additional, Beaumeunier, Sacha, additional, Bertrand, Denis, additional, Audoux, Jerome, additional, Genevieve, David, additional, Mesnard, Laurent, additional, Nicolas, Gael, additional, Thevenon, Julien, additional, and Philippe, Nicolas, additional

Published
2021
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8. Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

Author

Kleinfinger, Pascale, primary, Lohmann, Laurence, additional, Luscan, Armelle, additional, Trost, Detlef, additional, Bidat, Laurent, additional, Debarge, Véronique, additional, Castaigne, Vanina, additional, Senat, Marie-Victoire, additional, Brechard, Marie-Pierre, additional, Guilbaud, Lucie, additional, Le Guyader, Gwenaël, additional, Satre, Véronique, additional, Laurichesse Delmas, Hélène, additional, Lallaoui, Hakima, additional, Manca-Pellissier, Marie-Christine, additional, Boughalem, Aicha, additional, Valduga, Mylene, additional, Hodeib, Farah, additional, Benachi, Alexandra, additional, and Costa, Jean Marc, additional

Published
2020
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9. Combination of the MEK Inhibitor Trametinib and Pyrvinium Pamoate Efficiently Targets RAS Pathway-Mutated Acute Myeloid Leukemia in Preclinical Models

Author

Decroocq, Justine, primary, Birsen, Rudy, additional, Mano, Jordi, additional, Fouquet, Guillemette, additional, Gotanègre, Mathilde, additional, Poulain, Laury, additional, Mouche, Sarah, additional, Alary, Anne-Sophie, additional, Grenier, Adrien, additional, Mazed, Fetta, additional, Mondesir, Johanna, additional, Chapuis, Nicolas, additional, Boughalem, Aicha, additional, Le Lorc'h, Marc, additional, Moura, Ivan C, additional, Hermine, Olivier, additional, Radford-Weiss, Isabelle, additional, Sarry, Jean-Emmanuel, additional, Pasmant, Eric, additional, Kosmider, Olivier, additional, Bouscary, Didier, additional, and Tamburini, Jerome, additional

Published
2019
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