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There are 3760 results for: content related to: The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients' perspective

  1. Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 935–950, Seema M. Jamal, Joon-Ho Yu, Jessica X. Chong, Karin M. Dent, Jessie H. Conta, Holly K. Tabor and Michael J. Bamshad

    Article first published online : 22 APR 2013, DOI: 10.1002/ajmg.a.35942

  2. Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1291–1299, Agnieszka Jurecka, Ekaterina Zakharova, Loreta Cimbalistiene, Nina Gusina, Anna Kulpanovich, Adam Golda, Violetta Opoka-Winiarska, Ewa Piotrowska, Elena Voskoboeva and Anna Tylki-Szymańska

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35905

  3. Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1726–1732, Eric T. Rush, Jadd M. Stevens, Warren G. Sanger and Ann H. Olney

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35951

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    Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  5. Angelman syndrome in adulthood

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 331–344, Anna M. Larson, Julianna E. Shinnick, Elias A. Shaaya, Elizabeth A. Thiele and Ronald L. Thibert

    Article first published online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36864

  6. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1882–1896, Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover and Catherine E. Keegan

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36018

  7. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1833–1852, Cynthia J. Curry, Jill A. Rosenfeld, Erica Grant, Karen W. Gripp, Carol Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, Michelle Falco, Christina Fels, Marco Fichera, Jesper Graakjaer, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene Huggins, Roger Ladda, Chumei Li, John Moeschler, Malgorzata J.M. Nowaczyk, Jillian R. Ozmore, Santina Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark Tarnopolsky, Raymond Tervo, Anne Chun-Hui Tsai, Megan Tucker, Stephanie Vallee, Ferrin C Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer and William B. Dobyns

    Article first published online : 27 JUN 2013, DOI: 10.1002/ajmg.a.35996

  8. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 1061–1070, David D. Weaver, Audrey R. Norby, Jill A. Rosenfeld, Virginia K. Proud, Brooke E. Spangler, Jeffrey E. Ming, Elizabeth Chisholm, Elaine H. Zackai, Beom Hee Lee, Lisa Edelmann and Robert J. Desnick

    Article first published online : 27 FEB 2015, DOI: 10.1002/ajmg.a.36973

  9. Epidemiology of fragile X syndrome: A systematic review and meta-analysis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1648–1658, Jessica Hunter, Oliver Rivero-Arias, Angel Angelov, Edward Kim, Iain Fotheringham and Jose Leal

    Article first published online : 3 APR 2014, DOI: 10.1002/ajmg.a.36511

  10. Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 141–155, Anne Wheeler, Melissa Raspa, Carla Bann, Ellen Bishop, David Hessl, Pat Sacco and Donald B. Bailey Jr.

    Article first published online : 25 NOV 2013, DOI: 10.1002/ajmg.a.36232

  11. Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1064–1072, Joon-Ho Yu, Julia Crouch, Seema M. Jamal, Holly K. Tabor and Michael J. Bamshad

    Article first published online : 22 APR 2013, DOI: 10.1002/ajmg.a.35914

  12. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1992–1998, Erin E. Torti, Stephen R. Braddock, Kristen Bernreuter and Jacqueline R. Batanian

    Article first published online : 24 JUL 2013, DOI: 10.1002/ajmg.a.35918

  13. Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2276–2286, Morten Herlin, Allan T. Højland and Michael B. Petersen

    Article first published online : 26 JUN 2014, DOI: 10.1002/ajmg.a.36652

  14. A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2187–2199, Peter H. Langlois, Karen B. Moffitt and Angela E. Scheuerle

    Article first published online : 10 JUN 2014, DOI: 10.1002/ajmg.a.36623

  15. Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2814–2821, Angela Myers, Jonathan A. Bernstein, Marie-Luise Brennan, Cynthia Curry, Edward D. Esplin, Jamie Fisher, Margaret Homeyer, Melanie A. Manning, Eric A. Muller, Anna-Kaisa Niemi, Laurie H. Seaver, Susan R. Hintz and Louanne Hudgins

    Article first published online : 22 SEP 2014, DOI: 10.1002/ajmg.a.36737

  16. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1666–1674, Andrea Van Lierde, Francesca Menni, Maria Francesca Bedeschi, Federica Natacci, Sophie Guez, Paola Vizziello, Maria Antonella Costantino, Faustina Lalatta and Susanna Esposito

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35982

  17. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1779–1785, Shino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, Keisuke Yoshii, Yumi Tani, Midori Sugawara, Keiko Shimojima, Makiko Osawa and Toshiyuki Yamamoto

    Article first published online : 23 MAY 2013, DOI: 10.1002/ajmg.a.35975

  18. Chimerism in monochorionic dizygotic twins: Case study and review

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1817–1824, Kristen Chen, Ramen H. Chmait, Douglas Vanderbilt, Samuel Wu and Linda Randolph

    Article first published online : 22 MAY 2013, DOI: 10.1002/ajmg.a.35957

  19. Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1638–1646, Christopher A. Chapleau, Jane Lane, Susan M. Kirwin, Carolyn Schanen, Kathy M.B. Vinette, Danielle Stubbolo, Patrick MacLeod and Alan K. Percy

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35979

  20. Pain interference in youth with neurofibromatosis type 1 and plexiform neurofibromas and relation to disease severity, social-emotional functioning, and quality of life

    American Journal of Medical Genetics Part A

    Pamela L. Wolters, Katherine M. Burns, Staci Martin, Andrea Baldwin, Eva Dombi, Mary Anne Toledo-Tamula, William N. Dudley, Andrea Gillespie and Brigitte C. Widemann

    Article first published online : 14 MAY 2015, DOI: 10.1002/ajmg.a.37123