Search Results - "Kuentz, P."

Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status by Kuentz, P., Vanden Meerschaut, F., ElInati, E., Nasr-Esfahani, M.H., Gurgan, T., Iqbal, N., Carré-Pigeon, F., Brugnon, F., Gitlin, S.A., Velez de la Calle, J., Kilani, Z., De Sutter, P., Viville, S.

“…STUDY QUESTION Does DPY19L2 status influence intracytoplasmic sperm injection (ICSI) outcomes with or without assisted oocyte activation (AOA)? SUMMARY ANSWER…”
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OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway by Bourgon, N., Carmignac, V., Sorlin, A., Duffour, Y., Philippe, C., Thauvin, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P.

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Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations by Theiler, M., Weibel, L., Christen‐Zaech, S., Carmignac, V., Sorlin, A., Neuhaus, K., Chevarin, M., Thauvin‐Robinet, C., Philippe, C., Faivre, L., Vabres, P., Kuentz, P.

“…Background Postzygotic mutations in FGFR2 have been identified in mosaic forms of acne, keratinocytic epidermal nevi, nevoid acanthosis nigricans / rounded and…”
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Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway by Bourgon, N., Carmignac, V., Sorlin, A., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P., Tisserand, Emilie, Chevarin, Martin, Delanne, Julian, Jouan, Thibaud, Pöe, Charlotte, Abel, Carine, Allory, Patrick, Amram, Daniel, Attie‐Bitach, Tania, Aziza, Jacqueline, Benevent, Jean‐Baptiste, Bidat, Laurent, Bessières, Bettina, Boussion, Françoise, Cabaret‐Dufour, Anne‐Sophie, Chanoz‐Poulard, Geneviève, Chassaing, Nicolas, Ciorna‐Monferrato, Viorica, Cordier, Anne‐Gaëlle, Cordier, Marie‐Pierre, Cuillier, Fabrice, Doray, Berenice, Encha‐Razavi, Ferechte, Eszto, Marie‐Laure, Bianco, Catherine Fallet, Fernandez, Carla, Ferry, Mathilde, Fichez, Axel, Vequeau, Valérie Goua, Grevent, David, Guichet, Agnès, Laurent, Nicole, Le Gac, Marie‐Pascale, Lefebvre, Mathilde, Letard, Pascaline, Loget, Philippe, Loisel, Didier, Martinovich, Jelena, Masutti, Jean‐Paul, Millischer, Anne‐Elodie, Musizzano, Yuri, Nord, Jean‐François, Perez, Marie‐Josée, Prieur, Fabienne, Proisy, Maia, Quelin, Chloé, Roth, Philippe, Rousseau, Thierry, Salomon, Laurent, Sonigo, Pascale, Spaggiari, Emmanuel, Stempfle, Noëlle, Stirnemann, Julien, Tanteau, Julia, Triau, Stéphane, Vasiljevic, Alexandre, Ville, Yves, Zidane‐Marinnes, Merzouka, Kaltenbach, Sophie, Rivière, Jean‐Baptiste

“…ABSTRACT Objectives To describe clinical and molecular findings in a French multicenter cohort of fetuses with prenatal diagnosis of congenital abnormality and…”
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management by Avila, M., Dyment, D.A., Sagen, J.V., St-Onge, J., Moog, U., Chung, B.H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D.O., Lopez, A.A., Claudi, T., König, R., White, S.M., Sawyer, S.L., Bernstein, J.A., Slattery, L., Jobling, R.K., Yoon, G., Curry, C.J., Merrer, M.L., Luyer, B.L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njølstad, P.R., Innes, A.M., Thauvin-Robinet, C.

“…SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O),…”
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Expanding the clinical spectrum of mosaic BRAF skin phenotypes by Sorlin, A., Carmignac, V., Amiel, J., Boccara, O., Fraitag, S., Maruani, A., Theiler, M., Weibel, L., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P., Kuentz, P.

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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data by Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A.L., Bainbridge, M., Rio, M., Goizet, C., Rötig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Rivière, J.B., Thauvin‐Robinet, C., Beaudet, A.L., Faivre, L.

“…Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay,…”
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TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation by Lemattre, C., Thevenon, J., Duffourd, Y., Nambot, S., Haquet, E., Vuadelle, B., Genevieve, D., Sarda, P., Bruel, A. L., Kuentz, P., Wells, C. F., Faivre, L., Willems, M.

“…Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de…”
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Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus by Kuentz, P., Fraitag, S., Gonzales, M., Dhombres, F., St‐Onge, J., Duffourd, Y., Joyé, N., Jouannic, J.‐M., Picard, A., Marle, N., Thevenon, J., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P.

“…Summary Papillomatous pedunculated sebaceous naevus (PPSN) has been described as a subtype of sebaceous naevus (SN), typically affecting the scalp and face. In…”
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype by Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., Ghoumid, Jamal

“…Molecular anomalies in MED13L , leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct…”
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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis by Bruel, A.‐L., Masurel‐Paulet, A., Rivière, J.‐B., Duffourd, Y., Lehalle, D., Bensignor, C., Huet, F., Borgnon, J., Roucher, F., Kuentz, P., Deleuze, J.‐F., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.

“…Description of a boy from consanguineous family, with scrotal agenesis and Dandy‐Walker malformation. We report on a boy with a rare malformative association…”
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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities by Thauvin-Robinet, C., Duplomb-Jego, L., Limoge, F., Picot, D., Masurel, A., Terriat, B., Champilou, C., Minot, D., St-Onge, J., Kuentz, P., Duffourd, Y., Thevenon, J., Rivière, J.-B., Faivre, L.

“…The acidic fibroblast growth factor (FGF) intracellular binding protein (FIBP) interacts directly with the fibroblast growth factor FGF1. Although FIBP is…”
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315 Cerebriform sebaceous nevus is caused by the specific postzygotic FGRF2 p.(Cys382Arg) variation by Kuentz, P., Theiler, M., Carmignac, V., Sorlin, A., Vabres, P.

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LB1539 Genotype-first phenotyping of 32 patients with post-zygotic GNAQ or GNA11 mutations by Jordan, M., Carmignac, V., Sorlin, A., Kuentz, P., Philippe, C., Vabres, P., cohort, M.

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome by Besnard, Thomas, Sloboda, Natacha, Goldenberg, Alice, Küry, Sébastien, Cogné, Benjamin, Breheret, Flora, Trochu, Eva, Conrad, Solène, Vincent, Marie, Deb, Wallid, Balguerie, Xavier, Barbarot, Sébastien, Baujat, Geneviève, Ben-Omran, Tawfeg, Bursztejn, Anne-Claire, Carmignac, Virginie, Datta, Alexandre N., Delignières, Aline, Faivre, Laurence, Gardie, Betty, Guéant, Jean-Louis, Kuentz, Paul, Lenglet, Marion, Nassogne, Marie-Cécile, Ramaekers, Vincent, Schnur, Rhonda E., Si, Yue, Torti, Erin, Thevenon, Julien, Vabres, Pierre, Van Maldergem, Lionel, Wand, Dorothea, Wiedemann, Arnaud, Cariou, Bertrand, Redon, Richard, Lamazière, Antonin, Bézieau, Stéphane, Feillet, Francois, Isidor, Bertrand

“…Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with…”
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Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations by Lefebvre, Mathilde, Bruel, Ange-Line, Tisserant, Emilie, Bourgon, Nicolas, Duffourd, Yannis, Collardeau-Frachon, Sophie, Attie-Bitach, Tania, Kuentz, Paul, Assoum, Mirna, Schaefer, Elise, El Chehadeh, Salima, Antal, Maria Cristina, Kremer, Valérie, Girard-Lemaitre, Françoise, Mandel, Jean-Louis, Lehalle, Daphne, Nambot, Sophie, Jean-Marçais, Nolwenn, Houcinat, Nada, Moutton, Sébastien, Marle, Nathalie, Lambert, Laetita, Jonveaux, Philippe, Foliguet, Bernard, Mazutti, Jean-Pierre, Gaillard, Dominique, Alanio, Elisabeth, Poirisier, Celine, Lebre, Anne-Sophie, Aubert-Lenoir, Marion, Arbez-Gindre, Francine, Odent, Sylvie, Quélin, Chloé, Loget, Philippe, Fradin, Melanie, Willems, Marjolaine, Bigi, Nicole, Perez, Marie-José, Blesson, Sophie, Francannet, Christine, Beaufrere, Anne-Marie, Patrier-Sallebert, Sophie, Guerrot, Anne-Marie, Goldenberg, Alice, Brehin, Anne-Claire, Lespinasse, James, Touraine, Renaud, Capri, Yline, Saint-Frison, Marie-Hélène, Laurent, Nicole, Philippe, Christophe, Tran Mau-Them, Frederic, Thevenon, Julien, Faivre, Laurence, Thauvin-Robinet, Christel, Vitobello, Antonio

“…Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some…”
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782 Detection of mosaic copy-number variation from whole-exome sequencing in mosaic cutaneous disorders using XHMM and custom SNP approach by Sorlin, A., Tisserant, Thevenon, J., Carmignac, V., Duffourd, Y., Kuentz, P., Rivière, J., Thauvin-Robinet, C., Faivre, L., Callier, P., Vabres, P.

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783 Molecular diagnosis of mosaic skin development disorders using next generation sequencing by Carmignac, V., Kuentz, P., Sorlin, A., Chevarin, M., Jouan, T., Duffourd, Y., Rivière, J., Poë, C., Tran-Mau-Them, F., Thauvin-Robinet, C., Faivre, L., Philippe, C., Vabres, P.

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794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome by Vabres, P., Sorlin, A., Kholmanskikh, S., Duffourd, Y., Kuentz, P., Carmignac, V., Bessis, D., Dobyns, W., Polubothu, S., Faravelli, F., Kinsler, V., Faivre, L., Ross, M., Rivière, J.

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Incidence and characteristics of COVID-19 in French professional football players during the 2020-2021 season by Luque-Paz, David, Orhant, Emmanuel, Michel, Fabrice, Kuentz, Philippe, Chapellier, Jean-François, Rolland, Eric, Rabaud, Christian, Tattevin, Pierre

“…To describe the epidemiology of COVID-19 in French professional football players, and to compare the infection incidence with the general population across the…”
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