Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Kline, Antonie D, Moss, Joanna F, Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A, Gillett, Peter M, Ishman, Stacey L, Kerr, Lynne M, Levin, Alex V, Mulder, Paul A, Ramos, Feliciano J, Wierzba, Jolanta, Ajmone, Paola Francesca, Axtell, David, Blagowidow, Natalie, Cereda, Anna, Costantino, Antonella, Cormier-Daire, Valerie, FitzPatrick, David, Grados, Marco, Groves, Laura, Guthrie, Whitney, Huisman, Sylvia, Kaiser, Frank J, Koekkoek, Gerritjan, Levis, Mary, Mariani, Milena, McCleery, Joseph P, Menke, Leonie A, Metrena, Amy, O'Connor, Julia, Oliver, Chris, Pie, Juan, Piening, Sigrid, Potter, Carol J, Quaglio, Ana L, Redeker, Egbert, Richman, David, Rigamonti, Claudia, Shi, Angell, Tümer, Zeynep, Van Balkom, Ingrid D C, Hennekam, Raoul C
Published in Nature reviews. Genetics (01.10.2018)
Published in Nature reviews. Genetics (01.10.2018)
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Journal Article
Pediatric joint hypermobility: a diagnostic framework and narrative review
Tofts, Louise Jane, Simmonds, Jane, Schwartz, Sarah B, Richheimer, Roberto M, O'Connor, Constance, Elias, Ellen, Engelbert, Raoul, Cleary, Katie, Tinkle, Brad T, Kline, Antonie D, Hakim, Alan J, van Rossum, Marion A J, Pacey, Verity
Published in Orphanet journal of rare diseases (04.05.2023)
Published in Orphanet journal of rare diseases (04.05.2023)
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Journal Article
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature
Au, P Y Billie, Goedhart, Caitlin, Ferguson, Marcia, Breckpot, Jeroen, Devriendt, Koenraad, Wierenga, Klaas, Fanning, Elizabeth, Grange, Dorothy K, Graham, Gail E, Galarreta, Carolina, Jones, Marilyn C, Kini, Usha, Stewart, Helen, Parboosingh, Jillian S, Kline, Antonie D, Innes, A Micheil
Published in European journal of human genetics : EJHG (01.09.2018)
Published in European journal of human genetics : EJHG (01.09.2018)
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Journal Article
Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible
Theda, Christiane, Gibbons, Katy, DeFor, Todd E., Donohue, Pamela K., Golden, W. Christopher, Kline, Antonie D., Gulamali-Majid, Fizza, Panny, Susan R., Hubbard, Walter C., Jones, Richard O., Liu, Anita K., Moser, Ann B., Raymond, Gerald V.
Published in Molecular genetics and metabolism (01.01.2014)
Published in Molecular genetics and metabolism (01.01.2014)
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Journal Article
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
Rohatgi, Sarika, Clark, Dinah, Kline, Antonie D., Jackson, Laird G., Pie, Juan, Siu, Victoria, Ramos, Feliciano J., Krantz, Ian D., Deardorff, Matthew A.
Published in American journal of medical genetics. Part A (01.07.2010)
Published in American journal of medical genetics. Part A (01.07.2010)
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Journal Article
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018
Kline, Antonie D., Krantz, Ian D., Bando, Masashige, Shirahige, Katsuhiko, Chea, Stephenson, Sakata, Toyonori, Rao, Suhas, Dorsett, Dale, Singh, Vijay Pratap, Gerton, Jennifer L., Horsfield, Julia A., Calof, Anne L., Katz, Olivia, Grados, Marco, Raible, Sarah, Barañano, Kristin, Lyon, Gholson, Musio, Antonio, Carrico, Cheri S., Clemens, Douglas K., Caudill, Patti, Massa, Valentina, McGill, Bryan E., Dommestrup, Aila, O'Connor, Julia, Haaland, Richard E.
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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Journal Article
Conference Proceeding
Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis
Chatfield, Kathryn C., Schrier, Samantha A., Li, Jennifer, Clark, Dinah, Kaur, Maninder, Kline, Antonie D., Deardorff, Matthew A., Jackson, Laird S., Goldmuntz, Elizabeth, Krantz, Ian D.
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Journal Article
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016
Kline, Antonie D., Krantz, Ian D., Deardorff, Matthew A., Shirahige, Katsuhiko, Dorsett, Dale, Gerton, Jennifer L., Wu, Meng, Mehta, Devanshi, Mills, Jason A., Carrico, Cheri S., Noon, Sarah, Herrera, Pamela S., Horsfield, Julia A., Bettale, Chiara, Morgan, Jeremy, Huisman, Sylvia A., Moss, Jo, McCleery, Joseph, Grados, Marco, Hansen, Blake D., Srivastava, Siddharth, Taylor‐Snell, Emily, Kerr, Lynne M., Katz, Olivia, Calof, Anne L., Musio, Antonio, Egense, Alena, Haaland, Richard E.
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Journal Article
Conference Proceeding
Improvement in hearing loss over time in cornelia de lange syndrome
Janek, Kevin C., BS, Smith, David F., MD, PhD, Kline, Antonie D., M.D, Benke, James R., BS, Chen, Mei-Ling, Au.D, Kimball, Amy, M.S, Ishman, Stacey L., MD, MPH
Published in International journal of pediatric otorhinolaryngology (01.08.2016)
Published in International journal of pediatric otorhinolaryngology (01.08.2016)
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Journal Article
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E.L.M., Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje W.M., Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen L.I., Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Journal Article
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo
Cukrov, Dubravka, Newman, Trent A C, Leask, Megan, Leeke, Bryony, Sarogni, Patrizia, Patimo, Alessandra, Kline, Antonie D, Krantz, Ian D, Horsfield, Julia A, Musio, Antonio
Published in Human molecular genetics (01.09.2018)
Published in Human molecular genetics (01.09.2018)
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Journal Article
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
Deardorff, Matthew A., Kaur, Maninder, Yaeger, Dinah, Rampuria, Abhinav, Korolev, Sergey, Pie, Juan, Gil-Rodríguez, Concepcion, Arnedo, María, Loeys, Bart, Kline, Antonie D., Wilson, Meredith, Lillquist, Kaj, Siu, Victoria, Ramos, Feliciano J., Musio, Antonio, Jackson, Laird S., Dorsett, Dale, Krantz, Ian D.
Published in American journal of human genetics (01.03.2007)
Published in American journal of human genetics (01.03.2007)
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Journal Article
Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome
Srivastava, Siddharth, Clark, Bennett, Landy-Schmitt, Colleen, Offermann, Elizabeth A., Kline, Antonie D., Wilkinson, Samuel T., Grados, Marco A.
Published in Journal of autism and developmental disorders (01.05.2021)
Published in Journal of autism and developmental disorders (01.05.2021)
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Journal Article
Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders
Mu, Weiyi, Muriello, Michael, Clemens, Julia L., Wang, You, Smith, Christy H., Tran, Phuong T., Rowe, Peter C., Francomano, Clair A., Kline, Antonie D., Bodurtha, Joann
Published in American journal of medical genetics. Part A (01.04.2019)
Published in American journal of medical genetics. Part A (01.04.2019)
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Journal Article
GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK
Au, P. Y. Billie, You, Jing, Caluseriu, Oana, Schwartzentruber, Jeremy, Majewski, Jacek, Bernier, Francois P., Ferguson, Marcia, Valle, David, Parboosingh, Jillian S., Sobreira, Nara, Innes, A. Micheil, Kline, Antonie D.
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
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Journal Article
Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome
Wang, You, Clemens, Julia L, Muriello, Michael, Mu, Weiyi, Smith, Christy H, Tran, Phuong T, Rowe, Peter C, Francomano, Clair, Kline, Antonie D, Bodurtha, Joann
Published in Journal of child health care (01.06.2024)
Published in Journal of child health care (01.06.2024)
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Journal Article
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
Fan, Yanjie, Yin, Wu, Hu, Bing, Kline, Antonie D., Zhang, Victor Wei, Liang, Desheng, Sun, Yu, Wang, Lili, Tang, Sha, Powis, Zöe, Li, Lei, Yan, Huifang, Shi, Zhen, Yang, Xiaoping, Chen, Yinyin, Wang, Jingmin, Jiang, Yuwu, Tan, Hu, Gu, Xuefan, Wu, Lingqian, Yu, Yongguo
Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Journal Article