Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Autor: Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

Publikováno v: In The American Journal of Human Genetics 7 March 2024 111(3):509-528

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Autor: Odent Sylvie, Paniel Bernard-Jean, Loget Philippe, Dubourg Christèle, Le Caignec Cédric, Rochard Lucie, Pasquier Laurent, Watrin Tanguy, Morcel Karine, David Véronique, Pellerin Isabelle, Bendavid Claude, Guerrier Daniel

Publikováno v: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 9 (2011)

Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX kary

Externí odkaz: https://doaj.org/article/fbcdd376f211423dae64d3f6168bf552

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability

Autor: Pacault, Mathilde, Nizon, Mathilde, Pichon, Olivier, Vincent, Marie, Le Caignec, Cédric, Isidor, Bertrand

Publikováno v: In European Journal of Medical Genetics December 2019 62(12)

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Autor: Jedraszak, Guillaume, Jobic, Florence, Receveur, Aline, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte, Tiffany, Busa, Missirian, Chantal, Willems, Marjolaine, Odent, Sylvie, Lucas, Josette, Dubourg, Christele, Schaefer, Elise, Scheidecker, Sophie, Lespinasse, James, Goldenberg, Alice, Guerrot, Anne‐Marie, Joly‐Helas, Géraldine, Chambon, Pascal, Le Caignec, Cédric, David, Albert

Publikováno v: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-7, 7p

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Autor: Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujat, Geneviève, Sloan-Béna, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Alupay, Hanalore, Aaronson, Benjamin, Ackerman, Sean, Ankenman, Katy, Anwar, Ayesha, Atwell, Constance, Bowe, Alexandra, Beaudet, Arthur L., Benedetti, Marta, Berg, Jessica, Berman, Jeffrey, Berry, Leandra N., Bibb, Audrey L., Blaskey, Lisa, Brennan, Jonathan, Brewton, Christie M., Buckner, Randy, Bukshpun, Polina, Burko, Jordan, Cali, Phil, Cerban, Bettina, Chang, Yishin, Cheong, Maxwell, Chow, Vivian, Chu, Zili, Chudnovskaya, Darina, Cornew, Lauren, Dale, Corby, Dell, John, Dempsey, Allison G., Deschamps, Trent, Earl, Rachel, Edgar, James, Elgin, Jenna, Olson, Jennifer Endre, Evans, Yolanda L., Findlay, Anne, Fischbach, Gerald D., Fisk, Charlie, Fregeau, Brieana, Gaetz, Bill, Gaetz, Leah, Garza, Silvia, Gerdts, Jennifer, Glenn, Orit, Gobuty, Sarah E., Golembski, Rachel, Greenup, Marion, Heiken, Kory, Hines, Katherine, Hinkley, Leighton, Jackson, Frank I., Jenkins, Julian, III, Jeremy, Rita J., Johnson, Kelly, Kanne, Stephen M., Kessler, Sudha, Khan, Sarah Y., Ku, Matthew, Kuschner, Emily, Laakman, Anna L., Lam, Peter, Lasala, Morgan W., Lee, Hana, LaGuerre, Kevin, Levy, Susan, Cavanagh, Alyss Lian, Llorens, Ashlie V., Campe, Katherine Loftus, Luks, Tracy L., Marco, Elysa J., Martin, Stephen, Martin, Alastair J., Marzano, Gabriela, Masson, Christina, McGovern, Kathleen E., McNally Keehn, Rebecca, Miller, David T., Miller, Fiona K., Moss, Timothy J., Murray, Rebecca, Nagarajan, Srikantan S., Nowell, Kerri P., Owen, Julia, Paal, Andrea M., Packer, Alan, Page, Patricia Z., Paul, Brianna M., Peters, Alana, Peterson, Danica, Poduri, Annapurna, Pojman, Nicholas J., Porche, Ken, Proud, Monica B., Qasmieh, Saba, Ramocki, Melissa B., Reilly, Beau, Roberts, Timothy P.L., Shaw, Dennis, Sinha, Tuhin, Smith-Packard, Bethanny, Gallagher, Anne Snow, Swarnakar, Vivek, Thieu, Tony, Triantafallou, Christina, Vaughan, Roger, Wakahiro, Mari, Wallace, Arianne, Ward, Tracey, Wenegrat, Julia, Wolken, Anne, Martin-Brevet, Sandra, Rodríguez-Herreros, Borja, Nielsen, Jared A., Moreau, Clara, Modenato, Claudia, Maillard, Anne M., Pain, Aurélie, Richetin, Sonia, Jønch, Aia E., Qureshi, Abid Y., Zürcher, Nicole R., Conus, Philippe, Chung, Wendy K., Sherr, Elliott H., Spiro, John E., Kherif, Ferath, Beckmann, Jacques S., Hadjikhani, Nouchine, Reymond, Alexandre, Buckner, Randy L., Draganski, Bogdan, Jacquemont, Sébastien

Publikováno v: In Biological Psychiatry 15 August 2018 84(4):253-264