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There are 31302 results for: content related to: Laboratory policies on reporting secondary findings in clinical whole exome sequencing: Initial uptake of the ACMG's recommendations

  1. You have free access to this content
    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

  2. Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 859–873, Judith G. Hall

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36397

  3. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 958–965, Ina E. Amarillo, Wenhui Laura Li, Xinmin Li, Eric Vilain and Sibel Kantarci

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36393

  4. Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11–13q12.13

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1734–1743, Piero Pavone, Silvana Briuglia, Raffaele Falsaperla, Amiel Warm, Vito Pavone, Laura Bernardini, Antonio Novelli, Andrea D. Praticò, Vincenzo Salpietro and Martino Ruggieri

    Article first published online : 7 MAY 2014, DOI: 10.1002/ajmg.a.36391

  5. Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1069–1074, Monika Thapa, Alexander Asamoah, Gordon C. Gowans, Kathryn C. Platky, Margaret J. Barch, Patricia Mouchrani, Cecilia Rajakaruna and Joseph H. Hersh

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36396

  6. Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1062–1068, K. Nicole Weaver, Moussa El Hallek, Robert J. Hopkin, Kristen L. Sund, Michael Henrickson, Daniela del Gaudio, Adnan Yuksel, Gül Ozbilen Acar, Michael B. Bober, Jinoh Kim and Simeon A. Boyadjiev

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36390

  7. A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1049–1055, Ellyze Van Asbeck, David F.G.J. Wolthuis, Miski Mohamed, Ron A. Wevers, Cristoph G. Korenke, Thatjana Gardeitchik and Eva Morava

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36392

  8. The smallest de novo deletion of 20q11.21–q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1056–1061, Renata Posmyk, Ryszard Leśniewicz, Magdalena Gogiel, Monika Chorąży, Alina Bakunowicz-Łazarczyk, Danuta Sielicka, Joris Vermeesch and Beata Anna Nowakowska

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36394

  9. A case of Rubinstein-Taybi syndrome and congenital neuroblastoma

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1332–1333, Ellen de Kort, Nikk Conneman and Karin Diderich

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36399

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    CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 563–578, Brigitte C. Widemann, Maria T. Acosta, Sylvia Ammoun, Allan J. Belzberg, Andre Bernards, Jaishri Blakeley, Antony Bretscher, Karen Cichowski, D. Wade Clapp, Eva Dombi, Gareth D. Evans, Rosalie Ferner, Cristina Fernandez-Valle, Michael J. Fisher, Marco Giovannini, David H. Gutmann, C. Oliver Hanemann, Robert Hennigan, Susan Huson, David Ingram, Joe Kissil, Bruce R. Korf, Eric Legius, Roger J. Packer, Andrea I McClatchey, Frank McCormick, Kathryn North, Minja Pehrsson, Scott R. Plotkin, Vijaya Ramesh, Nancy Ratner, Susann Schirmer, Larry Sherman, Elizabeth Schorry, David Stevenson, Douglas R. Stewart, Nicole Ullrich, Annette C. Bakker and Helen Morrison

    Article first published online : 17 JAN 2014, DOI: 10.1002/ajmg.a.36312

  11. 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

  12. An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 950–957, Hung-Chun Yu, Elizabeth A. Geiger, Livija Medne, Elaine H. Zackai and Tamim H. Shaikh

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36379

  13. The Habsburg Jaw—Re-examined

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2263–2269, Zachary S. Peacock, Katherine P. Klein, John B. Mulliken and Leonard B. Kaban

    Article first published online : 18 JUN 2014, DOI: 10.1002/ajmg.a.36639

  14. A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1021–1028, Ryoko Fukai, Yoko Hiraki, Gen Nishimura, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naomichi Matsumoto and Noriko Miyake

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36377

  15. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 579–587, Sara Ekvall, Kerstin Sjörs, Anders Jonzon, Mauno Vihinen, Göran Annerén and Marie-Louise Bondeson

    Article first published online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36313

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    Genetic services and attitudes in primary care pediatrics

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 449–455, Michael L. Rinke, Natalie Mikat-Stevens, Robert Saul, Amy Driscoll, Jill Healy and Beth A. Tarini

    Article first published online : 19 NOV 2013, DOI: 10.1002/ajmg.a.36339

  17. Twenty-two survivors over the age of 1 year with full trisomy 18: Presenting and current medical conditions

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 610–619, Deborah Bruns and Emily Campbell

    Article first published online : 20 DEC 2013, DOI: 10.1002/ajmg.a.36318

  18. Microarray and FISH-based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 597–609, Kenji Shimizu, Keiko Wakui, Tomoki Kosho, Nobuhiko Okamoto, Seiji Mizuno, Kazuya Itomi, Shigeto Hattori, Kimio Nishio, Osamu Samura, Yoshiyuki Kobayashi, Yuko Kako, Takashi Arai, Tsutomu Oh-ishi, Hiroshi Kawame, Yoko Narumi, Hirofumi Ohashi and Yoshimitsu Fukushima

    Article first published online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36308

  19. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 924–933, Daisuke Fukushi, Kenichiro Yamada, Noriko Nomura, Misako Naiki, Reiko Kimura, Yasukazu Yamada, Toshiyuki Kumagai, Kumiko Yamaguchi, Yoshishige Miyake and Nobuaki Wakamatsu

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36373

  20. Airway malacia in children with achondroplasia

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 407–414, Kimberly E. Dessoffy, Peggy Modaff and Richard M. Pauli

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36303