Zobrazeno 1 - 10
of 339
pro vyhledávání: '"Kleefstra Syndrome"'
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 948-952 (2024)
Objective: Kleefstra Syndrome (KS) is a rare genetic disorder caused by a deletion at 9q34.3. Studies showed that various heart defects are observed in 41–43% of patients and abnormal features on brain imaging in 58–63%. To date, the prenatal phe
Externí odkaz:
https://doaj.org/article/0837a5e2411d443d84ffe336a5275053
Autor:
Andrea Balogh, Mária Bódi-Jakus, Vivien Réka Karl, Tamás Bellák, Balázs Széky, János Farkas, Federica Lamberto, David Novak, Anita Fehér, Melinda Zana, András Dinnyés
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract In the present study, we aimed to establish and characterize a mature cortical spheroid model system for Kleefstra syndrome (KS) using patient-derived iPSC. We identified key differences in the growth behavior of KS spheroids determined by r
Externí odkaz:
https://doaj.org/article/06195f2e86214261b189325dc26c9d8d
Autor:
Zdolšek Draksler, Tanja a, b, ⁎, Bouman, Arianne c, d, Guček, Alenka e, Novak, Erik e, Burger, Pauline f, Colin, Florent f, g, Kleefstra, Tjitske h, i, c
Publikováno v:
In European Journal of Medical Genetics December 2024 72
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 2, Pp 238-241 (2024)
Objective: Kleefstra syndrome (KS), formerly known as 9q subtelomeric deletion syndrome, is characterized by multiple structural abnormalities. However, most fetuses do not have obvious abnormal phenotypes. In this study, the fetus with KS presented
Externí odkaz:
https://doaj.org/article/6613a1fa111846f5a51c70661aa6eedb
Autor:
Rots, Dmitrijs 1, 2, 3, 88, Choufani, Sanaa 4, 88, Faundes, Victor 5, 87, 88, Dingemans, Alexander J.M. 1, Joss, Shelagh 6, Foulds, Nicola 7, Jones, Elizabeth A. 8, 9, Stewart, Sarah 8, Vasudevan, Pradeep 10, Dabir, Tabib 11, Park, Soo-Mi 12, Jewell, Rosalyn 13, Brown, Natasha 14, 15, Pais, Lynn 16, 17, Jacquemont, Sébastien 18, Jizi, Khadijé 19, Ravenswaaij-Arts, Conny M.A. van 20, Kroes, Hester Y. 21, Stumpel, Constance T.R. M. 22, 23, Ockeloen, Charlotte W. 1, Diets, Illja J. 1, Nizon, Mathilde 24, Vincent, Marie 24, Cogné, Benjamin 24, Besnard, Thomas 24, Kambouris, Marios 25, Anderson, Emily 26, Zackai, Elaine H. 27, McDougall, Carey 28, Donoghue, Sarah 28, O'Donnell-Luria, Anne 16, 17, Valivullah, Zaheer 16, O'Leary, Melanie 16, 29, Srivastava, Siddharth 30, Byers, Heather 31, Leslie, Nancy 32, Mazzola, Sarah 33, Tiller, George E. 34, Vera, Moin 34, Shen, Joseph J. 35, 36, Boles, Richard 37, Jain, Vani 38, Brischoux-Boucher, Elise 39, Kinning, Esther 40, Simpson, Brittany N. 41, Giltay, Jacques C. 21, Harris, Jacqueline 42, 43, Keren, Boris 44, Guimier, Anne 45, Marijon, Pierre 46, Vries, Bert B.A. de 1, Motter, Constance S. 47, Mendelsohn, Bryce A. 48, Coffino, Samantha 49, Gerkes, Erica H. 50, Afenjar, Alexandra 51, Visconti, Paola 52, Bacchelli, Elena 53, Maestrini, Elena 53, Delahaye-Duriez, Andree 54, Gooch, Catherine 55, Hendriks, Yvonne 56, Adams, Hieab 1, 2, Thauvin-Robinet, Christel 57, 58, 59, Josephi-Taylor, Sarah 60, 61, Bertoli, Marta 62, Parker, Michael J. 63, Rutten, Julie W. 56, Caluseriu, Oana 64, Vernon, Hilary J. 65, Kaziyev, Jonah 17, Zhu, Jia 17, Kremen, Jessica 66, Frazier, Zoe 67, Osika, Hailey 67, Breault, David 17, Nair, Sreelata 68, Lewis, Suzanne M.E. 69, Ceroni, Fabiola 53, 70, Viggiano, Marta 53, Posar, Annio 52, 71, Brittain, Helen 72, Giovanna, Traficante 73, Giulia, Gori 74, Quteineh, Lina 75, Ha-Vinh Leuchter, Russia 76, Zonneveld-Huijssoon, Evelien 77, Mellado, Cecilia 78, Marey, Isabelle 79, Coudert, Alicia 79, Aracena Alvarez, Mariana Inés 80, Kennis, Milou G.P. 1, Bouman, Arianne 1, Roifman, Maian 81, Amorós Rodríguez, María Inmaculada 82, Ortigoza-Escobar, Juan Dario 83, Vernimmen, Vivian 22, 23, Sinnema, Margje 22, Pfundt, Rolph 1, Brunner, Han G. 1, 22, Vissers, Lisenka E.L.M. 1, 84, Kleefstra, Tjitske 1, 2, 85, 89, ∗, Weksberg, Rosanna 4, 86, 89, ∗∗, Banka, Siddharth 8, 87, 89
Publikováno v:
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
Autor:
Rots, Dmitrijs 1, 2, 3, 77, Bouman, Arianne 2, 4, 77, Yamada, Ayumi 5, 77, Levy, Michael 6, Dingemans, Alexander J.M. 2, de Vries, Bert B.A. 2, Ruiterkamp-Versteeg, Martina 2, de Leeuw, Nicole 2, Ockeloen, Charlotte W. 2, Pfundt, Rolph 2, de Boer, Elke 2, Kummeling, Joost 2, van Bon, Bregje 2, van Bokhoven, Hans 2, Kasri, Nael Nadif 2, Venselaar, Hanka 7, Alders, Marielle 8, 9, Kerkhof, Jennifer 6, McConkey, Haley 6, 10, Kuechler, Alma 11, Elffers, Bart 12, 13, van Beeck Calkoen, Rixje 12, Hofman, Susanna 14, Smith, Audrey 15, Valenzuela, Maria Irene 16, 17, Srivastava, Siddharth 18, Frazier, Zoe 19, Maystadt, Isabelle 20, Piscopo, Carmelo 21, Merla, Giuseppe 22, 23, Balasubramanian, Meena 24, 25, Santen, Gijs W.E. 26, Metcalfe, Kay 15, Park, Soo-Mi 27, Pasquier, Laurent 28, Banka, Siddharth 15, 29, Donnai, Dian 15, Weisberg, Daniel 15, Strobl-Wildemann, Gertrud 30, Wagemans, Annemieke 31, 32, Vreeburg, Maaike 33, Baralle, Diana 34, Foulds, Nicola 35, Scurr, Ingrid 36, Brunetti-Pierri, Nicola 37, 38, 39, van Hagen, Johanna M. 40, Bijlsma, Emilia K. 41, Hakonen, Anna H. 42, Courage, Carolina 42, Genevieve, David 43, 44, Pinson, Lucile 44, Forzano, Francesca 45, Deshpande, Charu 15, Kluskens, Maria L. 46, Welling, Lindsey 46, Plomp, Astrid S. 8, 9, Vanhoutte, Els K. 33, Kalsner, Louisa 47, Hol, Janna A. 48, Putoux, Audrey 49, 50, Lazier, Johanna 51, Vasudevan, Pradeep 52, Ames, Elizabeth 53, O'Shea, Jessica 53, Lederer, Damien 54, Fleischer, Julie 55, O'Connor, Mary 55, Pauly, Melissa 56, Vasileiou, Georgia 56, 57, Reis, André 56, 57, Kiraly-Borri, Catherine 58, Bouman, Arjan 1, Barnett, Chris 59, Nezarati, Marjan 60, 61, Borch, Lauren 62, Beunders, Gea 63, Özcan, Kübra 64, Miot, Stéphanie 65, 66, Volker-Touw, Catharina M.L. 67, van Gassen, Koen L.I. 67, Cappuccio, Gerarda 68, 69, Janssens, Katrien 70, Mor, Nofar 71, Shomer, Inna 71, Dominissini, Dan 71, 72, Tedder, Matthew L. 73, Muir, Alison M. 74, Sadikovic, Bekim 6, Brunner, Han G. 2, 33, Vissers, Lisenka E.L.M. 2, 75, Shinkai, Yoichi 5, 78, ∗, Kleefstra, Tjitske 1, 2, 76, 78, ∗∗
Publikováno v:
In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss 4, Pp 308-311 (2023)
Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the euchromatin histone methyl transferase 1 (EHMT1) gene. It can be accompanied by intellectual disability, distinctive facial features, microcephaly, psychiatri
Externí odkaz:
https://doaj.org/article/bea73036584c4c8f92e7bf8576ab65d1
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-4 (2023)
Abstract Background Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and is
Externí odkaz:
https://doaj.org/article/2cf980c6c7bc47a0902d214d47fa9e81
Publikováno v:
Pediatric Anesthesia and Critical Care Journal (PACCJ), Vol 11, Iss 2, Pp 95-99 (2023)
Kleefstra syndrome (KS) is a genetic disorder caused by a microdeletion in the 9q34.3 chromosome with related clinical conditions requiring surgical intervention and careful consideration for anesthetic management includ- ing potential difficult airw
Externí odkaz:
https://doaj.org/article/01624a27531e4d09b4e8d6e12d55ca9f
Autor:
Iglesias-Ortega, Lucía a, 1, Megías-Fernández, Clara b, c, 1, Domínguez-Giménez, Paloma c, Jimeno-González, Silvia b, c, Rivero, Sabrina a, c, ⁎
Publikováno v:
In Cellular Signalling August 2023 108