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There are 3545 results for: content related to: Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

  1. “If it helps …” the use of microarray technology in prenatal testing: Patient and partners reflections

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1619–1627, Sarah C. Hillman, John Skelton, Elizabeth Quinlan-Jones, Amie Wilson and Mark D. Kilby

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35981

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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

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    Historical perspective on developmental concepts and terminology

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2711–2725, John M. Opitz and Giovanni Neri

    Article first published online : 10 OCT 2013, DOI: 10.1002/ajmg.a.36244

  4. ADAM “sequence” part II: Hypothesis and speculation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 478–503, John M. Opitz, Dennis R. Johnson and Enid F. Gilbert-Barness

    Article first published online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36937

  5. Development of the human aortic arch system captured in an interactive three-dimensional reference model

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1372–1383, M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

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    Annals of morphology. Atavisms: Phylogenetic lazarus?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2822–2835, Ginevra Zanni and John M. Opitz

    Article first published online : 8 OCT 2013, DOI: 10.1002/ajmg.a.36234

  7. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2989–3004, Marco Castori, Silvia Morlino, Claudia Celletti, Giulia Ghibellini, Michela Bruschini, Paola Grammatico, Carlo Blundo and Filippo Camerota

    Article first published online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

  8. Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay

    American Journal of Medical Genetics Part A

    Ellen Ø Carlsen, Eirik Frengen, Madeleine Fannemel and Doriana Misceo

    Article first published online : 6 APR 2015, DOI: 10.1002/ajmg.a.37079

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    Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader–Willi syndrome: A comparison between maternal uniparental disomy and deletion cases

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2180–2186, Hiroyuki Ogata, Hiroshi Ihara, Nobuyuki Murakami, Masao Gito, Yasuhiro Kido and Toshiro Nagai

    Article first published online : 21 MAY 2014, DOI: 10.1002/ajmg.a.36615

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    Our children are not a diagnosis: The experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 308–318, Jennifer Guon, Benjamin S. Wilfond, Barbara Farlow, Tracy Brazg and Annie Janvier

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36298

  11. Modeling AEC—New approaches to study rare genetic disorders

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2443–2454, Peter J. Koch, Jason Dinella, Mary Fete, Elaine C. Siegfried and Maranke I. Koster

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36455

  12. A rural community's involvement in the design and usability testing of a computer-based informed consent process for the personalized medicine research project

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 129–140, Andrea N. Mahnke, Joseph M. Plasek, David G. Hoffman, Nathan S. Partridge, Wendy S. Foth, Carol J. Waudby, Luke V. Rasmussen, Valerie D. McManus and Catherine A. McCarty

    Article first published online : 22 NOV 2013, DOI: 10.1002/ajmg.a.36220

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    Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 69–79, Frederick A. Kweh, Jennifer L. Miller, Carlos R. Sulsona, Clive Wasserfall, Mark Atkinson, Jonathan J. Shuster, Anthony P. Goldstone and Daniel J. Driscoll

    Article first published online : 29 OCT 2014, DOI: 10.1002/ajmg.a.36810

  14. Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2321–2326, Samantha J Turner, Michael S. Hildebrand, Susan Block, John Damiano, Michael Fahey, Sheena Reilly, Melanie Bahlo, Ingrid E. Scheffer and Angela T. Morgan

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36055

  15. Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader–Willi syndrome: An observational study

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2167–2173, Yasuhiro Kido, Satoru Sakazume, Yoshiko Abe, Yuji Oto, Hisashi Itabashi, Masahisa Shiraishi, Atsunori Yoshino, Yuriko Tanaka, Kazuo Obata, Nobuyuki Murakami and Toshiro Nagai

    Article first published online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36048

  16. Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2066–2073, Lior Borovik, Peggy Modaff, Hans R. Waterham, Anthony D. Krentz and Richard M. Pauli

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36019

  17. 10 years later: Assessing the impact of public health efforts on the collection of family health history

    American Journal of Medical Genetics Part A

    Brandon M. Welch, Nathaniel O'Connell and Joshua D. Schiffman

    Article first published online : 1 MAY 2015, DOI: 10.1002/ajmg.a.37139

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    Self-concept in children with Down syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 1891–1898, Sayoni Saha, Eric Doran, Kathryn E. Osann, Christy Hom, Nina Movsesyan, Diana D. Rosa, Anne Tournay and Ira T. Lott

    Article first published online : 16 MAY 2014, DOI: 10.1002/ajmg.a.36597

  19. X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2437–2442, Mary Fete, Julie Hermann, Jeffrey Behrens and Kenneth M. Huttner

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36436

  20. 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