Delineating the CCDC22‐related Ritscher–Schinzel syndrome phenotype in the original family von Rodgers, Jonathan, Richmond, Christopher M., McGaughran, Julie

Volltext

The Hilbert–Schinzel specialization property von Bodin, Arnaud, Dèbes, Pierre, König, Joachim, Najib, Salah

Volltext

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome von Veltman, Joris A, Hoischen, Alexander, van Bon, Bregje W M, Gilissen, Christian, Arts, Peer, van Lier, Bart, Steehouwer, Marloes, de Vries, Petra, de Reuver, Rick, Wieskamp, Nienke, Mortier, Geert, Devriendt, Koen, Amorim, Marta Z, Revencu, Nicole, Kidd, Alexa, Barbosa, Mafalda, Turner, Anne, Smith, Janine, Oley, Christina, Henderson, Alex, Hayes, Ian M, Thompson, Elizabeth M, Brunner, Han G, de Vries, Bert B A

Volltext

Constructing sparse Davenport–Schinzel sequences von Geneson, Jesse

Volltext

Schinzel Hypothesis on average and rational points von Skorobogatov, Alexei N., Sofos, Efthymios

Volltext

The Schinzel hypothesis for polynomials von Bodin, Arnaud, Dèbes, Pierre, Najib, Salah

Volltext

Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome von Healy, Michael D., McNally, Kerrie E., Butkovič, Rebeka, Chilton, Molly, Kato, Kohji, Sacharz, Joanna, McConville, Calum, Moody, Edmund R.R., Shaw, Shrestha, Planelles-Herrero, Vicente J., Yadav, Sathish K.N., Ross, Jennifer, Borucu, Ufuk, Palmer, Catherine S., Chen, Kai-En, Croll, Tristan I., Hall, Ryan J., Caruana, Nikeisha J., Ghai, Rajesh, Nguyen, Thi H.D., Heesom, Kate J., Saitoh, Shinji, Berger, Imre, Schaffitzel, Christiane, Williams, Tom A., Stroud, David A., Derivery, Emmanuel, Collins, Brett M., Cullen, Peter J.

Volltext

A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort von Elliott, Alison M, Simard, Louise R, Coghlan, Gail, Chudley, Albert E, Chodirker, Bernard N, Greenberg, Cheryl R, Burch, Tanya, Ly, Valentina, Hatch, Grant M, Zelinski, Teresa

Volltext

Schinzel Hypothesis on average and rational points von Skorobogatov, AN, Sofos, E

Volltext

A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome von Sullivan, Jennifer A., Stong, Nicholas, Baugh, Evan H., McDonald, Marie T., Takeuchi, Akihito, Shashi, Vandana

Volltext

Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice von Whitlock, Jordan H, Soelter, Tabea M, Howton, Timothy C, Wilk, Elizabeth J, Oza, Vishal H, Lasseigne, Brittany N

Volltext

Improved Bounds and New Techniques for Davenport―Schinzel Sequences and Their Generalizations von NIVASCH, Gabriel

Volltext

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature von Zheng, Jing, Gu, Meiqun, Xiao, Shasha, Li, Chongzhen, Mi, Hongying, Xu, Xiaoyan

Volltext

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome von Filges, Isabel, Shimojima, Keiko, Okamoto, Nobuhiko, Röthlisberger, Benno, Weber, Peter, Huber, Andreas R, Nishizawa, Tsutomu, Datta, Alexandre N, Miny, Peter, Yamamoto, Toshiyuki

Volltext

SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome von Banfi, Federica, Rubio, Alicia, Zaghi, Mattia, Massimino, Luca, Fagnocchi, Giulia, Bellini, Edoardo, Luoni, Mirko, Cancellieri, Cinzia, Bagliani, Anna, Di Resta, Chiara, Maffezzini, Camilla, Ianielli, Angelo, Ferrari, Maurizio, Piazza, Rocco, Mologni, Luca, Broccoli, Vania, Sessa, Alessandro

Volltext

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes von Neri, Sabrina, Maia, Nuno, Fortuna, Ana M., Damasio, Joana, Coale, Elizabeth, Willis, Mary, Jorge, Paula, Højte, Anne F., Fenger, Christina D., Møller, Rikke S., Bayat, Allan

Volltext

Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1 S858R Schinzel Giedion Syndrome mice von Whitlock, Jordan H, Soelter, Tabea M, Howton, Timothy C, Wilk, Elizabeth J, Oza, Vishal H, Lasseigne, Brittany N

Volltext

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies von Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A, van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B, Destree, Anne, Smigiel, Robert, Lambie, Lindsday A, Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G, Mihci, Ercan, Moreira, Lilia M A, Borges Ferreira, Viviane, Horovitz, Dafne D G, da Rocha, Katia M, Jezela-Stanek, Aleksandra, Brooks, Alice S, Reutter, Heiko, Cohen, Julie S, Fatemi, Ali, Smitka, Martin, Grebe, Theresa A, Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A, De Vries, Bert B A, Schinzel, Albert, Fisher, Simon E, Hoischen, Alexander, van Bon, Bregje W

Volltext

A Filipino Child with Schinzel-Giedion Syndrome von Abacan, Mary Ann R., Salonga-Quimpo, Rhea Angela M.

Volltext

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome von Otsuji, Shiomi, Nishio, Yosuke, Tsujita, Maki, Rio, Marlene, Huber, Céline, Antón-Plágaro, Carlos, Mizuno, Seiji, Kawano, Yoshihiko, Miyatake, Satoko, Simon, Marleen, van Binsbergen, Ellen, van Jaarsveld, Richard H, Matsumoto, Naomichi, Cormier-Daire, Valerie, J Cullen, Peter, Saitoh, Shinji, Kato, Kohji

Volltext