The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling

Autor: Malek Bouassida, Denise Molina‐Gomes, Fairouz Koraichi, Bérénice Hervé, Morgane Lhuilier, Clémence Duvillier, Jessica Le Gall, Marion Gauthier‐Villars, Valérie Serazin, Thibaud Quibel, Rodolphe Dard, François Vialard

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)

Abstract Background Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy‐number‐variant duplications and defining the mechanisms underlying the

Externí odkaz: https://doaj.org/article/af6164b5d9da485aafb99171c8d09aba

Genetic polymorphisms influence the ovarian response to rFSH stimulation in patients undergoing in vitro fertilization programs with ICSI.

Autor: Radia Boudjenah, Denise Molina-Gomes, Antoine Torre, Marianne Bergere, Marc Bailly, Florence Boitrelle, Stéphane Taieb, Robert Wainer, Mohamed Benahmed, Philippe de Mazancourt, Jacqueline Selva, François Vialard

Publikováno v: PLoS ONE, Vol 7, Iss 6, p e38700 (2012)

INTRODUCTION: Obtaining an adequate number of high-quality oocytes is a major challenge in controlled ovarian hyperstimulation (COH). To date, a range of hormonal and clinical parameters have been used to optimize COH but none have significant predic

Externí odkaz: https://doaj.org/article/f53e5d01e620437bb152151e2aa2e9aa

Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

Autor: Henriette Roed Nielsen, Judith Balmaña, Anne-Marie Gerdes, Ellen Honisch, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Douglas F. Easton, Linda Steele, Ava Kwong, Sung Won Kim, Bjarni A. Agnarsson, Piera Rizzolo, Angela R. Solano, Mads Thomassen, Johannes Lemke, Grazia Artioli, Heli Nevanlinna, Johanna I. Kiiski, Frans B. L. Hogervorst, Jong Won Lee, Diana Eccles, Mark H. Greene, Marc Tischkowitz, David E. Goldgar, Angela R. Bradbury, Javier Benitez, Marie Navratilova, Dominique Stoppa-Lyonnet, Arjen R. Mensenkamp, Alfons Meindl, Zisun Kim, Nadine Tung, Agnes Jager, Matthew L. Freedman, Ana Osorio, Norbert Arnold, Doris Steinemann, Inge Søkilde Pedersen, Patricia Llovet, Rob B. van der Luijt, Vivek L Patel, Munaza Ahmed, Lidia Moserle, Irene Konstantopoulou, Jackie Cook, Jacques Simard, Joan Brunet, Johanna Rantala, Kai-ren Ong, Carole Brewer, Joe Dennis, Sook-Yee Yoon, Hanne Meijers-Heijboer, Roberta Villa, Katie Snape, Louise Izatt, Ana Peixoto, Susan M. Domchek, Nina Ditsch, D. Gareth Evans, Tara M. Friebel, Sue K. Park, Katherine L. Nathanson, Lenka Foretova, Miguel Angel Pujana, Edith Olah, Hélène Schuster, Raymonda Varon-Mateeva, Silvia Tognazzo, Payal D. Shah, Oskar T. Johannsson, Hans Ehrencrona, Paul Gesta, Ian G. Campbell, Drakoulis Yannoukakos, Mirjam Larsen, Anthony V. D'Amico, Liene Nikitina-Zake, Davide Bondavalli, Valérie Bonadona, Paul A. James, Alan Donaldson, Antonis C. Antoniou, Bernd Auber, Andrew K. Godwin, Denise Molina Gomes, Jihyoun Lee, Laurence Faivre, Almuth Caliebe, Pilar Garre, Siddhartha Yadav, Julika Borde, Pedro Pérez-Segura, Birgitte Bertelsen, Paolo Peterlongo, Michael T. Parsons, John L. Hopper, Bruno Buecher, Goska Leslie, Shan Wang-Gohrke, Amanda B. Spurdle, T.M. Mooij, Juliane Ramser, kConFab Investigators, Lídia Feliubadaló, Susanne E. Boonen, Bernard Peissel, Anna von Wachenfeldt, Timothy R. Rebbeck, Christi J. van Asperen, Víctor Lorca, Estela Carrasco, Elisa Alducci, Ulrike Faust, Karin Kast, Gord Glendon, Saundra S. Buys, Fergus J. Couch, Mariarosaria Calvello, Istvan Bodrogi, Kathryn J. Ruddy, Philipp Wagner, Fabienne Lesueur, Evan L. Busch, Hebon Investigators, Laura Cortesi, Christian F. Singer, Ute Hamann, Giuseppe Damante, Stefania Tommasi, Esther M. John, Jacopo Azzollini, Cristina Zanzottera, Angelica M. Gutierrez-Barrera, Emmanuelle Mouret-Fourme, Claire Saule, Rosa B. Barkardottir, Kristin K. Zorn, Kerstin Rhiem, Uffe Birk Jensen, Mark Pomerantz, Yuan Chun Ding, Alison H. Trainer, Marco Montagna, Vijai Joseph, Domenico Palli, Kwang-Pil Ko, Angel M. Cronin, Susan L. Neuhausen, Dieter Niederacher, Laura Ottini, Angela Toss, Rita K. Schmutzler, Muriel Belotti, Jeffrey N. Weitzel, Caroline M. Seynaeve, Ileana Carnevali, Adalgeir Arason, Rosalind A. Eeles, Annie T W Chu, Florentia Fostira, Greet Wieme, Brita Arver, Charlotte Kvist Lautrup, Christoph Engel, Marion Gauthier-Villars, Daniel Barrowdale, Caroline Maria Rossing, Kenneth Offit, Kathleen Claes, Olufunmilayo I. Olopade, Penny Soucy, Alicia Barroso, Manuel R. Teixeira, Wendy K. Chung, Gero Kramer, Tsun Leung Chan, Agostina Stradella, Debra Frost, Noura Mebirouk, Liselotte P. van Hest, Esther Darder, Valentina Silvestri, Annabeth Høgh Petersen, Lesley McGuffog, Andrea Gehrig, Mary Porteous, Matti A. Rookus, Lizet E. van der Kolk, Siranoush Manoukian, Lone Sunde, Conxi Lázaro, Maria A. Caligo, Priyanka Sharma, Anne-Bine Skytte, Claus-Eric Ott, Christian Sutter, Paolo Radice, Veronica Medici, Georgia Chenevix-Trench, Vanesa García-Barberán, Kristiina Aittomäki, Amanda E. Toland, Anna Marie Mulligan, Véronique Mari, Bernd Dworniczak, Lynn Martin, Lara Della Puppa, Phuong L. Mai, George Fountzilas, Yen Y. Tan, Simona Agata, Torben A Kruse, Trinidad Caldés, Rosemarie Davidson, Daniel R. Barnes, Thomas Dyrso Jensen, Åke Borg, Mark E. Robson, Jennifer T. Loud, Vivian Y. Shin, Irene López-Perolio, Leigha Senter, Irene L. Andrulis, Rosa Scarpitta, Angela F. Brady, Annika Lindblom, Diana Torres, Lotte Nylandsted Krogh, Barbara Wappenschmidt, Muhammad Rashid, Jeroen Vierstraete, Mary B. Daly, Annelie Liljegren, Frederieke H. van der Baan, Eunyoung Kang, Alessandra Viel, Santiago Cabezas-Camarero, Eric Hahnen, Laura Matricardi, Marinus J. Blok, Edmond S. K. Ma, Maria Grazia Tibiletti, Catarina Santos, Julian Adlard, Soo Hwang Teo, Giuseppe Giannini, Jan Hauke, Peter J. Hulick, Miguel de la Hoya, Clare Miller, Bernardo Bonanni, Bent Ejlertsen, Lajos Géczi, Liliana Varesco, Orland Diez, N Herold, Christine Lasset, Adrià López-Fernández, Min Hyuk Lee

Publikováno v: Cancer Research, 80(3), 624-638. American Association for Cancer Research Inc.
Cancer Research, 80, 3, pp. 624-638
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Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Della Puppa, L, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A-M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Goldgar, D E, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S-W, Kim, Z, Ko, K-P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lázaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Molina Gomes, D, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Cilius Nielsen, F C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K-R, Osorio, A, Ott, C-E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Høgh Petersen, A, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A-B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstraete, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Cancer Research, 80(3), 624-638. AMER ASSOC CANCER RESEARCH
Cancer Research, 80, 624-638
Cancer research, 80(3), 624-638. American Association for Cancer Research Inc.
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Puppa, L D, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Radice, P, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC F, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S W, Kim, Z, Ko, K P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lazaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Gomes, D M, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Nielsen, F C C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K R, Osorio, A, Ott, C E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Petersen, A H, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstrate, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer Research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Cancer Res
Cancer Research, 80(3), 624. American Association for Cancer Research Inc.

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586e4ca6b50ef1e96acbb61e1a78bc0c
https://eprints.soton.ac.uk/438074/

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?

Autor: Sébastien Schmitt, Philippe Vago, Marie-Laure Maurin, Gregory Egea, Denise Molina Gomes, Emmanuelle Haquet, Marine Lebrun, Jacques Puechberty, François Vialard, Olivier Pichon, Perrine Malzac, Philippe Jonveaux, Martine Doco-Fenzy, Paul Kuentz, Sandra Chantot-Bastaraud, Kamran Moradkhani, Jean-Paul Bonnefont, Caroline Janel, Jean-Michel Dupont, Pierre Boisseau, Jean-Pierre Siffroi, Cédric Le Caignec, Anne-Laure Fauret-Amsellem, Damien Sanlaville, Chantal Missirian, Carole Goumy, Agnès Guichet, Marie-Christine Manca-Pellissier, Renaud Touraine, Laurence Cuisset, Pascale Saugier-Veber, Nicolas Gruchy, Houda Hamdi-Rozé, Bénédicte Duban-Bedu, Bruno Delobel, N. Joye, Isabelle Creveaux, Ines Harzallah, Frédéric Bilan, Philippe Gosset, Marie-Pierre Audrézet

Publikováno v: Prenatal Diagnosis
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, Wiley, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩

International audience; Objective: Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c647a284e78a1fbe1bdab254bf6bb6
https://hal.science/hal-02343373/document

Are leptin and adiponectin involved in recurrent pregnancy loss?

Autor: Valérie, Serazin, Fabien, Duval, Robert, Wainer, Célia, Ravel, François, Vialard, Denise, Molina-Gomes, Marie-Noëlle, Dieudonne, Esther, Dos Santos

Publikováno v: The journal of obstetrics and gynaecology research. 44(6)

The aim of this study was to investigate whether recurrent pregnancy loss (RPL) is associated with adipokine gene polymorphisms (namely the leptin -2548 (G/A), adiponectin 276 (G/T), and adiponectin 45 (T/G) polymorphisms) and/or adipokine serum leve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b933b9c4786b8ba2627fa873ee41c285
https://pubmed.ncbi.nlm.nih.gov/29536593