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There are 12350 results for: content related to: Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS / NPHP2 gene

  1. You have free access to this content
    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

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    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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

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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

  10. Endocrine abnormalities in townes–brocks syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2266–2273, Cara Lawrence, Irene Hong-McAtee, Bryan Hall, James Hartsfield, Andrew Rutherford, Tracy Bonilla and Carolyn Bay

    Article first published online : 25 JUL 2013, DOI: 10.1002/ajmg.a.36104

  11. A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2056–2059, Karen Low, James Smith, Simon Lee and Ruth Newbury-Ecob

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36016

  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. 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

  14. 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

  15. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2294–2299, Scott E. Hickey, Lauren Walters-Sen, Theresa Mihalic Mosher, Ruthann B. Pfau, Robert Pyatt, Pamela J. Snyder, Juan F. Sotos and Thomas W. Prior

    Article first published online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36034

  16. Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2327–2333, Elizabeth Bhoj, Sara Halbach, Donna McDonald-McGinn, Christopher Tan, Rachel Lande, Darrel Waggoner and Elaine Zackai

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36061

  17. Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2311–2315, Banu Guzel Nur, Francois P. Bernier, Osman Oztekin, Fırat Kardelen, Salih Kalay, Jillian S. Parboosingh and Ercan Mihci

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36051

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    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

  19. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2088–2094, Roseli Maria Zechi-Ceide, Priscila Padilha Moura, Salmo Raskin, Antonio Richieri-Costa and Maria Leine Guion-Almeida

    Article first published online : 9 JUL 2013, DOI: 10.1002/ajmg.a.36057

  20. 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