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There are 11836 results for: content related to: Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?

  1. You have free access to this content
    MLL2 and KDM6A mutations in patients with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2234–2243, Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun-Ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko-Ichiro Yoshiura, Naomichi Matsumoto and Norio Niikawa

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

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    Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1972–1979, Ok-Hwa Kim, Dong-Kyu Jin, Keisuke Kosaki, Jung-Wook Kim, Sung Yoon Cho, Won Joon Yoo, In Ho Choi, Gen Nishimura, Shiro Ikegawa and Tae-Joon Cho

    Article first published online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36024

  3. Microdeletion 5q14.3 and anomalies of brain development

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2124–2133, Alrun Hotz, Yorck Hellenbroich, Jürgen Sperner, Michaela Linder-Lucht, Uta Tacke, Caren Walter, Almuth Caliebe, Inga Nagel, Dawn E. Saunders, Gerhard Wolff, Peter Martin and Deborah J. Morris-Rosendahl

    Article first published online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36020

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    Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1929–1939, Jennifer M. Kalish, Laura K. Conlin, Tricia R. Bhatti, Holly A. Dubbs, Mary Catherine Harris, Kosuke Izumi, Sogol Mostoufi-Moab, Surabhi Mulchandani, Sulagna Saitta, Lisa J. States, Daniel T. Swarr, Alisha B. Wilkens, Elaine H. Zackai, Kristin Zelley, Marisa S. Bartolomei, Kim E. Nichols, Andrew A. Palladino, Nancy B. Spinner and Matthew A. Deardorff

    Article first published online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36045

  5. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2204–2215, Ofer Sarig, Dorit Goldsher, Janna Nousbeck, Dana Fuchs-Telem, Ksenya Cohen-Katsenelson, Theodore C. Iancu, Irena Manov, Ann Saada, Eli Sprecher and Hanna Mandel

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36059

  6. Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a saethre–chotzen-like phenotype, severe intellectual disability, and autism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2078–2083, Shino Shimada, Nobuhiko Okamoto, Shohei Nomura, Miho Fukui, Shuichi Shimakawa, Noriko Sangu, Keiko Shimojima, Makiko Osawa and Toshiyuki Yamamoto

    Article first published online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36027

  7. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1797–1802, Caroline Alby, Bettina Bessieres, Eric Bieth, Tania Attie-Bitach, Laurent Fermont, Isabelle Citony, Ferechté Razavi, Michel Vekemans, Fabienne Escande, Sylvie Manouvrier, Valérie Malan and Jeanne Amiel

    Article first published online : 24 MAY 2013, DOI: 10.1002/ajmg.a.36054

  8. Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1792–1796, Sharon Moalem, Sarah Keating, Patrick Shannon, Megan Thompson, Kathryn Millar, Keith Nykamp, Adam Forster, Abdul Noor and David Chitayat

    Article first published online : 24 MAY 2013, DOI: 10.1002/ajmg.a.36036

  9. An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1961–1971, Emma Vernersson Lindahl, Elvin L. Garcia and Alea A. Mills

    Article first published online : 14 JUN 2013, DOI: 10.1002/ajmg.a.36074

  10. High MMP-9 activity levels in fragile X syndrome are lowered by minocycline

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1897–1903, Magdalena Dziembowska, Dalyir I. Pretto, Aleksandra Janusz, Leszek Kaczmarek, Mary Jacena Leigh, Nielsen Gabriel, Blythe Durbin-Johnson, Randi J. Hagerman and Flora Tassone

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36023

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    A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2040–2046, Hugh Young Rienhoff Jr., Chang-Yeol Yeo, Rachel Morissette, Irina Khrebtukova, Jonathan Melnick, Shujun Luo, Nan Leng, Yeon-Jin Kim, Gary Schroth, John Westwick, Hannes Vogel, Nazli McDonnell, Judith G. Hall and Malcolm Whitman

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36056

  12. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1875–1881, Ghada M.H. Abdel-Salam, Mohamed S. Abdel-Hamid, Nihal A. Hassan, Mahmoud Y. Issa, Laila Effat, Samira Ismail, Mona S. Aglan and Maha S. Zaki

    Article first published online : 21 JUN 2013, DOI: 10.1002/ajmg.a.36009

  13. Homozygous deletion in TUSC3 causing syndromic intellectual disability: A new patient

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2084–2087, Sara Loddo, Valentina Parisi, Viola Doccini, Tiziana Filippi, Laura Bernardini, Paola Brovedani, Federica Ricci, Antonio Novelli and Agatino Battaglia

    Article first published online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36028

  14. You have free access to this content
    Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2339–2346, Yasuhiro Kido, Christopher T. Gordon, Satoru Sakazume, Eya Ben Bdira, Mehul Dattani, Louise C. Wilson, Stanislas Lyonnet, Nobuyuki Murakami, Michael L. Cunningham, Jeanne Amiel and Toshiro Nagai

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36066

  15. 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

  16. PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2134–2147, Ellen A. Tsai, Micah A. Berman, Laura K. Conlin, Heidi L. Rehm, Lauren J. Francey, Matthew A. Deardorff, Jenelle Holst, Maninder Kaur, Emily Gallant, Dinah M. Clark, Joseph T. Glessner, Shane T. Jensen, Struan F.A. Grant, Peter J. Gruber, Hakon Hakonarson, Nancy B. Spinner and Ian D. Krantz

    Article first published online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36038

  17. Increased fracture risk and low bone mineral density in patients with loeys–dietz syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1910–1914, Eric W. Tan, Roosevelt U. Offoha, Gretchen L. Oswald, Richard L. Skolasky, Ashvin K. Dewan, Gehua Zhen, Jay R. Shapiro, Harry C. Dietz, Xu Cao and Paul D. Sponseller

    Article first published online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36029

  18. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1915–1922, Lucia Püttmann, Henning Stehr, Masoud Garshasbi, Hao Hu, Kimia Kahrizi, Bettina Lipkowitz, Payman Jamali, Andreas Tzschach, Hossein Najmabadi, Hans-Hilger Ropers, Luciana Musante and Andreas W. Kuss

    Article first published online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36030

  19. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2420–2430, Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley and Katia Sol-Church

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36098

  20. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2487–2494, Steven M. Harrison, Ian M. Campbell, Melise Keays, Candace F. Granberg, Carlos Villanueva, Grace Tannin, Andrew R. Zinn, Diego H. Castrillon, Chad A. Shaw, Pawel Stankiewicz and Linda A. Baker

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36084