Search Results - "Dupont, Jean Michel"

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities by Previdi, Anaïk, Jordan, Pénélope, Egloff, Charles, Coussement, Aurélie, Ahmed‐Eli, Samira, Tudal, Laure, Bienvenu, Thierry, Picone, Olivier, Dupont, Jean‐Michel

“…15q24.1 microdeletion syndrome is a recently described condition often resulting from non‐allelic homologous recombination (NAHR). Typical clinical features…”
Get full text

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients by Jacquin, Clémence, Landais, Emilie, Poirsier, Céline, Afenjar, Alexandra, Akhavi, Ahmad, Bednarek, Nathalie, Bénech, Caroline, Bonnard, Adeline, Bosquet, Damien, Burglen, Lydie, Callier, Patrick, Chantot‐Bastaraud, Sandra, Coubes, Christine, Coutton, Charles, Delobel, Bruno, Descharmes, Margaux, Dupont, Jean‐Michel, Gatinois, Vincent, Gruchy, Nicolas, Guterman, Sarah, Heddar, Abdelkader, Herissant, Lucas, Heron, Delphine, Isidor, Bertrand, Jaeger, Pauline, Jouret, Guillaume, Keren, Boris, Kuentz, Paul, Le Caignec, Cedric, Levy, Jonathan, Lopez, Nathalie, Manssens, Zoe, Martin‐Coignard, Dominique, Marey, Isabelle, Mignot, Cyril, Missirian, Chantal, Pebrel‐Richard, Céline, Pinson, Lucile, Puechberty, Jacques, Redon, Sylvia, Sanlaville, Damien, Spodenkiewicz, Marta, Tabet, Anne‐Claude, Verloes, Alain, Vieville, Gaelle, Yardin, Catherine, Vialard, François, Doco‐Fenzy, Martine

“…Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the…”
Get full text

Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men by CHALAS BOISSONNAS, Céline, HAFIDA EL ABDALAOUI, HAELEWYN, Virginie, FAUQUE, Patricia, DUPONT, Jean Michel, GUT, Ivo, VAIMAN, Daniel, JOUANNET, Pierre, TOST, Jörg, JAMMES, Hélène

“…DNA methylation marks, a key modification of imprinting, are erased in primordial germ cells and sex specifically re-established during gametogenesis. Abnormal…”
Get full text

Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study by El Khattabi, Laïla Allach, Rouillac-Le Sciellour, Christelle, Le Tessier, Dominique, Luscan, Armelle, Coustier, Audrey, Porcher, Raphael, Bhouri, Rakia, Nectoux, Juliette, Sérazin, Valérie, Quibel, Thibaut, Mandelbrot, Laurent, Tsatsaris, Vassilis, Vialard, François, Dupont, Jean-Michel

“…NIPT for fetal aneuploidy by digital PCR has been hampered by the large number of PCR reactions needed to meet statistical requirements, preventing clinical…”
Get full text

An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency by Sakka, Rim, Abdelhedi, Fatma, Sellami, Hanen, Pichon, Bruno, Lajmi, Yosra, Mnif, Mouna, Kebaili, Sahbi, Derbel, Rihab, Kamoun, Hassen, Gdoura, Radhouane, Delbaere, Anne, Desir, Julie, Abramowicz, Marc, Vialard, François, Dupont, Jean-Michel, Ammar-Keskes, Leila

“…We report on the results of array-CGH and Whole exome sequencing (WES) studies carried out in a Tunisian family with 46,XX premature ovarian insufficiency…”
Get full text

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome by Lévy, Jonathan, Coussement, Aurélie, Dupont, Céline, Guimiot, Fabien, Baumann, Clarisse, Viot, Géraldine, Passemard, Sandrine, Capri, Yline, Drunat, Séverine, Verloes, Alain, Pipiras, Eva, Benzacken, Brigitte, Dupont, Jean‐Michel, Tabet, Anne‐Claude

“…Interstitial 2p15p16.1 microdeletion is a rare chromosomal syndrome previously reported in 33 patients. It is characterized by intellectual disability,…”
Get full text

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome by Soussi-Yanicostas, Nadia, Baverel, Françoise, Dupont, Jean-Michel, Cabrol, Sylvie, Levilliers, Jacqueline, Bouchard, Philippe, Kottler, Marie-Laure, Sanchez-Franco, Franco, Delmaghani, Sedigheh, Petit, Christine, Hardelin, Jean-Pierre, Delpech, Marc, De Paepe, Anne, Carel, Jean-Claude, Compain-Nouaille, Sylvie, Richard, Odile, Young, Jacques, Coimbra, Roney S, Goulet-Salmon, Barbara, Cruaud, Corinne, Le Tessier, Dominique, Vermeulen, Stefan, Delemarre-van de Waal, Henriette, Le Dû, Nathalie, Speleman, Frank, Saura, Robert, Bachelot, Yvan, Dodé, Catherine, Amalfitano, Andrea, Pêcheux, Christophe

“…We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of…”
Get full text

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis? by Moradkhani, Kamran, Cuisset, Laurence, Boisseau, Pierre, Pichon, Olivier, Lebrun, Marine, Hamdi‐Rozé, Houda, Maurin, Marie‐Laure, Gruchy, Nicolas, Manca‐Pellissier, Marie‐Christine, Malzac, Perrine, Bilan, Frédéric, Audrezet, Marie‐Pierre, Saugier‐Veber, Pascale, Fauret‐Amsellem, Anne‐Laure, Missirian, Chantal, Kuentz, Paul, Egea, Gregory, Guichet, Agnès, Creveaux, Isabelle, Janel, Caroline, Harzallah, Ines, Touraine, Renaud, Goumy, Carole, Joyé, Nicole, Puechberty, Jacques, Haquet, Emmanuelle, Chantot‐Bastaraud, Sandra, Schmitt, Sébastien, Gosset, Philippe, Duban‐Bedu, Bénédicte, Delobel, Bruno, Vago, Philippe, Vialard, François, Gomes, Denise Molina, Siffroi, Jean‐Pierre, Bonnefont, Jean‐Paul, Dupont, Jean‐Michel, Jonveaux, Philippe, Doco‐Fenzy, Martine, Sanlaville, Damien, Le Caignec, Cédric

“…Objective Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving…”
Get full text

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders by Abdelhedi, Fatma, El Khattabi, Laila, Essid, Nouha, Viot, Geraldine, Letessier, Dominique, Lebbar, Aziza, Dupont, Jean-Michel

“…Chromosomal microarray analysis has become a powerful diagnostic tool in the investigation of patients with intellectual disability leading to the discovery of…”
Get full text

IFN-α and CD46 stimulation are associated with active lupus and skew natural T regulatory cell differentiation to type 1 regulatory T (Tr1) cells by Le Buanec, Hélène, Gougeon, Marie-Lise, Mathian, Alexis, Lebon, Pierre, Dupont, Jean-Michel, Peltre, Gabriel, Hemon, Patrice, Schmid, Michel, Bizzini, Bernard, Künding, Thomas, Burny, Arsène, Bensussan, Armand, Amoura, Zahir, Gallo, Robert C, Zagury, Daniel

“…Immune suppressive activities exerted by regulatory T-cell subsets have several specific functions, including self-tolerance and regulation of adaptive immune…”
Get full text

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl by Boutry-Kryza, Nadia, Ville, Dorothée, Labalme, Audrey, Calender, Alain, Dupont, Jean-Michel, Touraine, Renaud, Edery, Patrick, des Portes, Vincent, Sanlaville, Damien, Lesca, Gaetan

“…Mutations of the CDKL5 gene cause early epileptic encephalopathy. Patients manifest refractory epilepsy, beginning before the age of 3 months, which is…”
Get full text

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization by Uguen, Kévin, Jubin, Claire, Duffourd, Yannis, Bardel, Claire, Malan, Valérie, Dupont, Jean‐Michel, El Khattabi, Laila, Chatron, Nicolas, Vitobello, Antonio, Rollat‐Farnier, Pierre‐Antoine, Baulard, Céline, Lelorch, Marc, Leduc, Aurélie, Tisserant, Emilie, Tran Mau‐Them, Frédéric, Danjean, Vincent, Delepine, Marc, Till, Marianne, Meyer, Vincent, Lyonnet, Stanislas, Mosca‐Boidron, Anne‐laure, Thevenon, Julien, Faivre, Laurence, Thauvin‐Robinet, Christel, Schluth‐Bolard, Caroline, Boland, Anne, Olaso, Robert, Callier, Patrick, Romana, Serge, Deleuze, Jean‐François, Sanlaville, Damien

“…Background Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS)…”
Get full text

Unusual isochromosome 5p marker chromosome by Roulet-Coudrier, Fanny, Rouibi, Amine, Thuillier, Clotilde, Bourthoumieu, Sylvie, Lebbar, Aziza, Dupont, Jean-Michel, Yardin, Catherine

Get full text

First reported case of interstitial 15 q15.3‐q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur by Abdelhedi, Fatma, Corcos, Johanna, Cuisset, Laurence, Tsatsaris, Vassilis, Tantau, Julia, Le Tessier, Dominique, Lebbar, Aziza, Dupont, Jean‐Michel

“…We report on a fetus with an isolated short femur detected by ultrasound and a de novo interstitial deletion of chromosome 15. The deletion was diagnosed…”
Get full text

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model by Leclercq, Sandrine, Maincent, Kim, Baverel, Françoise, Tessier, Dominique Le, Letourneur, Franck, Lebbar, Aziza, Dupont, Jean‐Michel

“…Inverted duplications with terminal deletions have been reported for an increasing number of chromosome ends. The best characterized and most frequent…”
Get full text

Methylation of specific CpG sites in the P2 promoter of parathyroid hormone-related protein determines the invasive potential of breast cancer cell lines by Tost, Jörg, Hamzaoui, Hinda, Busato, Florence, Neyret, Aymeric, Mourah, Samia, Dupont, Jean-Michel, Bouizar, Zhor

“…Parathyroid hormone-related protein (PTHrP) is upregulated in primary breast cancers and a major candidate for osteoclastic bone resorption present at sites of…”
Get full text

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity? by Jordan, Pénélope, Verebi, Camille, Hervé, Bérénice, Perol, Sandrine, Bernard, Valérie, Karila, Daphné, Jali, Eva, Brac de la Perrière, Aude, Grouthier, Virginie, Jonard-Catteau, Sophie, Touraine, Philippe, Fouveaut, Corinne, Plu-Bureau, Geneviève, Michel Dupont, Jean, Bachelot, Anne, Christin-Maitre, Sophie, Bienvenu, Thierry

“…•Most heterozygous GDF9 missense variants are of uncertain significance.•POI due to pathogenic GDF9 variants is a recessive genetic disorder.•Few heterozygous…”
Get full text

Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies by Leclercq, Sandrine, Lebbar, Aziza, Grange, Gilles, Tsatsaris, Vassilis, Le Tessier, Dominique, Dupont, Jean-Michel

“…Objective To evaluate the medical and economic performance of three strategies for selecting patients eligible for interphase FISH in the prenatal diagnosis of…”
Get full text

Maternal serum screening in cases of mosaic and translocation Down syndrome by Dreux, Sophie, Olivier, Camille, Dupont, Jean-Michel, Leporrier, Nathalie, Oury, Jean-François, Muller, Françoise

“…Objectives To determine if the second‐trimester maternal serum markers (MSM) screening for Down syndrome (DS) is efficient in DS mosaicism or structural…”
Get full text

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility by Lebbar, Aziza, Callier, Patrick, Baverel, Françoise, Marle, Nathalie, Patrat, Catherine, Le Tessier, Dominique, Mugneret, Francine, Dupont, Jean‐Michel

“…Structural chromosomal abnormalities can be associated with infertility through meiosis impairment or the formation of unbalanced gametes. Among these…”
Get full text