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There are 2957069 results for: content related to: Response to “germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures” by mariani et al.

  1. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

    Human Mutation

    Volume 36, Issue 4, April 2015, Pages: 454–462, María Concepción Gil-Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher A. Tan, Ilaria Parenti, Carolina Baquero-Montoya, Lilian B. Ousager, Beatriz Puisac, María Hernández-Marcos, María Esperanza Teresa-Rodrigo, Iñigo Marcos-Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K. Bijlsma, Diana Braunholz, Inés Bueno-Martinez, Dinah Clark, Nicola S. Cooper, Cynthia J. Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Yiran Guo, Hakon Hakonarson, Robert J. Hopkin, Maninder Kaur, Brendan J. Keating, María Kibaek, Esther Kinning, Tjitske Kleefstra, Antonie D. Kline, Ekaterina Kuchinskaya, Lidia Larizza, Yun R. Li, Xuanzhu Liu, Milena Mariani, Jonathan D. Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H. Scott, Joyce So, Katherine A. Wusik, Louise Wilson, Jianguo Zhang, Paulino Gómez-Puertas, César H. Casale, Lena Ström, Angelo Selicorni, Feliciano J. Ramos, Laird G. Jackson, Ian D. Krantz, Soma Das, Raoul C.M. Hennekam, Frank J. Kaiser, David R. FitzPatrick and Juan Pié

    Version of Record online : 17 MAR 2015, DOI: 10.1002/humu.22761

  2. Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2499–2505, Kathryn C. Chatfield, Samantha A. Schrier, Jennifer Li, Dinah Clark, Maninder Kaur, Antonie D. Kline, Matthew A. Deardorff, Laird S. Jackson, Elizabeth Goldmuntz and Ian D. Krantz

    Version of Record online : 10 SEP 2012, DOI: 10.1002/ajmg.a.35582

  3. Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 1848–1856, Dinah M. Clark, Ilana Sherer, Matthew A. Deardorff, Janice L.B. Byrne, Kathleen M. Loomes, Malgorzata J.M. Nowaczyk, Laird G. Jackson and Ian D. Krantz

    Version of Record online : 27 JUN 2012, DOI: 10.1002/ajmg.a.35410

  4. Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1384–1393, Antonie D. Kline, Anne L. Calof, Cheri A. Schaaf, Ian D. Krantz, Soma Jyonouchi, Kyoko Yokomori, Maria Gauze, Cheri S. Carrico, Julie Woodman, Jennifer L. Gerton, Hugo Vega, Alex V. Levin, Katsuhiko Shirahige, Michele Champion, Marjorie T. Goodban, Julia T. O'Connor, Mary Pipan, Julia Horsfield, Matthew A. Deardorff, Stacey L. Ishman and Dale Dorsett

    Version of Record online : 6 FEB 2014, DOI: 10.1002/ajmg.a.36417

  5. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

    American Journal of Medical Genetics Part A

    Volume 167, Issue 6, June 2015, Pages: 1179–1192, Antonie D. Kline, Anne L. Calof, Arthur D. Lander, Jennifer L. Gerton, Ian D. Krantz, Dale Dorsett, Matthew A. Deardorff, Natalie Blagowidow, Kyoko Yokomori, Katsuhiko Shirahige, Rosaysela Santos, Julie Woodman, Paul C. Megee, Julia T. O'Connor, Alena Egense, Sarah Noon, Maurice Belote, Marjorie T. Goodban, Blake D. Hansen, Jenni Glad Timmons, Antonio Musio, Stacey L. Ishman, Yvon Bryan, Yaning Wu, Laura R. Bettini, Devanshi Mehta, Musinu Zakari, Jason A. Mills, Siddharth Srivastava and Richard E. Haaland

    Version of Record online : 21 APR 2015, DOI: 10.1002/ajmg.a.37056

  6. You have free access to this content
    Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 276–282, Cheryl DeScipio, Maninder Kaur, Dinah Yaeger, Jeffrey W. Innis, Nancy B. Spinner, Laird G. Jackson and Ian D. Krantz

    Version of Record online : 1 AUG 2005, DOI: 10.1002/ajmg.a.30857

  7. Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 1841–1847, Mariko Nakanishi, Matthew A. Deardorff, Dinah Clark, Susan E. Levy, Ian Krantz and Mary Pipan

    Version of Record online : 27 JUN 2012, DOI: 10.1002/ajmg.a.34014

  8. Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 1, 15 September 2005, Pages: 27–31, Maninder Kaur, Cheryl DeScipio, Jennifer McCallum, Dinah Yaeger, Marcella Devoto, Laird G. Jackson, Nancy B. Spinner and Ian D. Krantz

    Version of Record online : 12 AUG 2005, DOI: 10.1002/ajmg.a.30919

  9. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3007–3024, Samantha A. Schrier, Ilana Sherer, Matthew A. Deardorff, Dinah Clark, Lynn Audette, Lynette Gillis, Antonie D. Kline, Linda Ernst, Kathleen Loomes, Ian D. Krantz and Laird G. Jackson

    Version of Record online : 8 NOV 2011, DOI: 10.1002/ajmg.a.34329

  10. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

    American Journal of Medical Genetics

    Volume 101, Issue 2, 15 June 2001, Pages: 120–129, Ian D. Krantz, Emma Tonkin, Melanie Smith, Marcella Devoto, Armand Bottani, Claire Simpson, Mary Hofreiter, Vinod Abraham, Lori Jukofsky, Brian P. Conti, Tom Strachan and Laird Jackson

    Version of Record online : 29 MAY 2001, DOI: 10.1002/1096-8628(20010615)101:2<120::AID-AJMG1319>3.0.CO;2-G

  11. Cornelia de Lange syndrome, cohesin, and beyond

    Clinical Genetics

    Volume 76, Issue 4, October 2009, Pages: 303–314, J Liu and ID Krantz

    Version of Record online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01271.x

  12. Germline mosaicism in Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1481–1485, Thomas P. Slavin, Noam Lazebnik, Dinah M. Clark, Jaime Vengoechea, Leslie Cohen, Maninder Kaur, Laura Konczal, Carol A. Crowe, Jane E. Corteville, Malgorzata J. Nowaczyk, Janice L. Byrne, Laird G. Jackson and Ian D. Krantz

    Version of Record online : 11 MAY 2012, DOI: 10.1002/ajmg.a.35381

  13. Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences

    American Journal of Medical Genetics

    Volume 104, Issue 4, 15 December 2001, Pages: 267–276, Karen L. Russell, Jeffrey E. Ming, Ketan Patel, Lori Jukofsky, Mark Magnusson and Ian D. Krantz

    Version of Record online : 29 OCT 2001, DOI: 10.1002/ajmg.10066

  14. The incidence of thrombocytopenia in children with Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 1, January 2011, Pages: 33–37, Michele P. Lambert, Laird G. Jackson, Dinah Clark, Mani Kaur, Ian D. Krantz and Matthew A. Deardorff

    Version of Record online : 10 DEC 2010, DOI: 10.1002/ajmg.a.33631

  15. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

    Human Mutation

    Volume 30, Issue 11, November 2009, Pages: 1535–1542, Jinglan Liu, Rachel Feldman, Zhe Zhang, Matthew A. Deardorff, Eden V. Haverfield, Maninder Kaur, Jennifer R. Li, Dinah Clark, Antonie D. Kline, Darrel J. Waggoner, Soma Das, Laird G. Jackson and Ian D. Krantz

    Version of Record online : 15 JUL 2009, DOI: 10.1002/humu.21095

  16. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 12, 15 June 2007, Pages: 1287–1296, Antonie D. Kline, Ian D. Krantz, Annemarie Sommer, Mark Kliewer, Laird G. Jackson, David R. FitzPatrick, Alex V. Levin and Angelo Selicorni

    Version of Record online : 16 MAY 2007, DOI: 10.1002/ajmg.a.31757

  17. You have free access to this content
    Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes

    British Journal of Haematology

    Volume 164, Issue 1, January 2014, Pages: 73–82, Daria V. Babushok, Hongbo M. Xie, Jacquelyn J. Roth, Nieves Perdigones, Timothy S. Olson, Joshua D. Cockroft, Xiaowu Gai, Juan C. Perin, Yimei Li, Michele E. Paessler, Hakon Hakonarson, Gregory M. Podsakoff, Philip J. Mason, Jaclyn A. Biegel and Monica Bessler

    Version of Record online : 14 OCT 2013, DOI: 10.1111/bjh.12603

  18. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 891–893, Christopher M. Grochowski, Ramakrishnan Rajagopalan, Alexandra M. Falsey, Kathleen M. Loomes, David A. Piccoli, Ian D. Krantz, Marcella Devoto and Nancy B. Spinner

    Version of Record online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36946

  19. Association between exposure to nonactionable physiologic monitor alarms and response time in a children's hospital

    Journal of Hospital Medicine

    Volume 10, Issue 6, June 2015, Pages: 345–351, Christopher P. Bonafide, Richard Lin, Miriam Zander, Christian Sarkis Graham, Christine W. Paine, Whitney Rock, Andrew Rich, Kathryn E. Roberts, Margaret Fortino, Vinay M. Nadkarni, A. Russell Localio and Ron Keren

    Version of Record online : 15 APR 2015, DOI: 10.1002/jhm.2331

  20. Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings

    Pediatric Blood & Cancer

    Volume 63, Issue 7, July 2016, Pages: 1175–1180, Karen A. Urtishak, Blaine W. Robinson, Eric F. Rappaport, Margaret D. Sarezky, Jaclyn A. Biegel, Kim E. Nichols, Donna M. Wilmoth, Li-San Wang, Julie W. Stern and Carolyn A. Felix

    Version of Record online : 21 MAR 2016, DOI: 10.1002/pbc.25957