Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes von Izumi, Kosuke

Volltext

Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review von Izumi, Kosuke, MD, Konczal, Laura L., MD, Mitchell, Anna L., MD, Jones, Marilyn C., MD

Volltext

Increased Clinical Sensitivity and Specificity of Plasma Protein N -Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ioni... von Chen, Jie, Li, Xueli, Edmondson, Andrew, Meyers, Gail Ditewig, Izumi, Kosuke, Ackermann, Amanda M, Morava, Eva, Ficicioglu, Can, Bennett, Michael J, He, Miao

Volltext

The Deubiquitinating Enzyme USP7 Regulates Androgen Receptor Activity by Modulating Its Binding to Chromatin von Chen, Shu-Ting, Okada, Maiko, Nakato, Ryuichiro, Izumi, Kosuke, Bando, Masashige, Shirahige, Katsuhiko

Volltext

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin von Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C, Noon, Sarah, Dulik, Matthew C, Rajagopalan, Ramakrishnan, Venditti, Charles P, Gripp, Karen, Samanich, Joy, Zackai, Elaine H, Deardorff, Matthew A, Clark, Dinah, Allen, Julian L, Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D

Volltext

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies von Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.

Volltext

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital von Pritchard, Amanda Barone, Izumi, Kosuke, Payan‐Walters, Irma, Yudkoff, Marc, Rand, Elizabeth B., Bhoj, Elizabeth

Volltext

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder von Kuroda, Yukiko, Iwata-Otsubo, Aiko, Dias, Kerith-Rae, Temple, Suzanna E.L., Nagao, Koji, De Hayr, Lachlan, Zhu, Ying, Isobe, Shin-Ya, Nishibuchi, Gohei, Fiordaliso, Sarah K., Fujita, Yuki, Rippert, Alyssa L., Baker, Samuel W., Leung, Marco L., Koboldt, Daniel C., Harman, Adele, Keena, Beth A., Kazama, Izumi, Subramanian, Gopinath Musuwadi, Manickam, Kandamurugu, Schmalz, Betsy, Latsko, Maeson, Zackai, Elaine H., Edwards, Matt, Evans, Carey-Anne, Dulik, Matthew C., Buckley, Michael F., Yamashita, Toshihide, O'Brien, W. Timothy, Harvey, Robert J., Obuse, Chikashi, Roscioli, Tony, Izumi, Kosuke

Volltext

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies von Pinz, Hailey, Pyle, Louise C., Li, Dong, Izumi, Kosuke, Skraban, Cara, Tarpinian, Jennifer, Braddock, Stephen R., Telegrafi, Aida, Monaghan, Kristin G., Zackai, Elaine, Bhoj, Elizabeth J.

Volltext

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects von Izumi, Kosuke, Brett, Maggie, Nishi, Eriko, Drunat, Séverine, Tan, Ee-Shien, Fujiki, Katsunori, Lebon, Sophie, Cham, Breana, Masuda, Koji, Arakawa, Michiko, Jacquinet, Adeline, Yamazumi, Yusuke, Chen, Shu-Ting, Verloes, Alain, Okada, Yuki, Katou, Yuki, Nakamura, Tomohiko, Akiyama, Tetsu, Gressens, Pierre, Foo, Roger, Passemard, Sandrine, Tan, Ene-Choo, El Ghouzzi, Vincent, Shirahige, Katsuhiko

Volltext

Clinical utility of exome sequencing in infantile heart failure von Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni, Skraban, Cara, Yang, Sandra, Ahrens-Nicklas, Rebecca C.

Volltext

MYH7 variants cause complex congenital heart disease von Ritter, Alyssa, Leonard, Jacqueline, Gray, Christopher, Izumi, Kosuke, Levinson, Katharine, Nair, Divya R., O'Connor, Matthew, Rossano, Joseph, Shankar, Venkat, Chowns, Jessica, Marzolf, Amy, Owens, Anjali, Ahrens‐Nicklas, Rebecca C.

Volltext

Cathepsin L-deficiency enhances liver regeneration after partial hepatectomy von Sato, Toshifumi, Yamashina, Shunhei, Izumi, Kosuke, Ueno, Takashi, Koike, Masato, Ikejima, Kenichi, Peters, Christoph, Watanabe, Sumio

Volltext

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children von Fetta, Anna, Toni, Francesco, Pettenuzzo, Ilaria, Ricci, Emilia, Rocca, Alessandro, Gambi, Caterina, Soliani, Luca, Di Pisa, Veronica, Martini, Silvia, Sperti, Giacomo, Cagnazzo, Valeria, Accorsi, Patrizia, Bartolini, Emanuele, Battaglia, Domenica, Bernardo, Pia, Canevini, Maria Paola, Ferrari, Anna Rita, Giordano, Lucio, Locatelli, Chiara, Mancardi, Margherita, Orsini, Alessandro, Pippucci, Tommaso, Pruna, Dario, Rosati, Anna, Suppiej, Agnese, Tagliani, Sara, Vaisfeld, Alessandro, Vignoli, Aglaia, Izumi, Kosuke, Krantz, Ian, Cordelli, Duccio Maria

Volltext

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients von Cohen, Jennifer L., Schrier Vergano, Samantha A., Mazzola, Sarah, Strong, Alanna, Keena, Beth, McDougall, Carey, Ritter, Alyssa, Li, Dong, Bedoukian, Emma C., Burke, Leah W., Hoffman, Amber, Zurcher, Victoria, Krantz, Ian D., Izumi, Kosuke, Bhoj, Elizabeth, Zackai, Elaine H., Deardorff, Matthew A.

Volltext

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment von Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

Volltext

Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases von Wilkens, Alisha, Liu, Hongbin, Park, Kristen, Campbell, Lindsey B., Jackson, Marie, Kostanecka, Anna, Pipan, Mary, Izumi, Kosuke, Pallister, Phillip, Krantz, Ian D.

Volltext

Expanding the phenotypic spectrum of ARCN1-related syndrome von Ritter, Alyssa L., Gold, Jessica, Hayashi, Hiroshi, Ackermann, Amanda M., Hanke, Stephanie, Skraban, Cara, Cuddapah, Sanmati, Bhoj, Elizabeth, Li, Dong, Kuroda, Yukiko, Wen, Jessica, Takeda, Ryojun, Bibb, Audrey, El Chehadeh, Salima, Piton, Amélie, Ohl, Jeanine, Kukolich, Mary K., Nagasaki, Keisuke, Kato, Kohji, Ogi, Tomoo, Bhatti, Tricia, Russo, Pierre, Krock, Bryan, Murrell, Jill R., Sullivan, Jennifer A., Shashi, Vandana, Stong, Nicholas, Hakonarson, Hakon, Sawano, Kentaro, Torti, Erin, Willaert, Rebecca, Si, Yue, Wilcox, William Ross, Wirgenes, Katrine Verena, Thomassen, Kristian, Carlotti, Katherine, Erwin, Angelika, Lazier, Joanna, Marquardt, Thorsten, He, Miao, Edmondson, Andrew C., Izumi, Kosuke

Volltext

Clinical and molecular spectrum of CHOPS syndrome von Raible, Sarah E., Mehta, Devanshi, Bettale, Chiara, Fiordaliso, Sarah, Kaur, Maninder, Medne, Livija, Rio, Marlene, Haan, Eric, White, Susan M., Cusmano‐Ozog, Kristina, Nishi, Eriko, Guo, Yiran, Wu, Honglin, Shi, Xiaoqing, Zhao, Qingjie, Zhang, Xueqin, Lei, Qi, Lu, Aimei, He, Xiyu, Okamoto, Nobuhiko, Miyake, Noriko, Piccione, Joseph, Allen, Julian, Matsumoto, Naomichi, Pipan, Mary, Krantz, Ian D., Izumi, Kosuke

Volltext

P186: The earliest sign of hypogonadotropic hypogonadism: The importance of genetic screening and evaluation in individuals with microphallus von Leonard, Jacqueline, Kilberg, Marissa, Vogiatzi, Maria, Gibson, Chris, Van Batavia, Jason, Morrow, Leela, Bamba, Vaneeta, Pinney, Sara, Gray, Christopher, Skraban, Cara, Izumi, Kosuke, Pyle, Louise

Volltext