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There are 15492 results for: content related to: Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

  1. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 237–247, Izak J. Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Katrina E. Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns and Deborah J. Morris-Rosendahl

    Version of Record online : 17 OCT 2012, DOI: 10.1002/humu.22224

  2. The molecular basis of oral-facial-digital syndrome, type 1

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 151C, Issue 4, 15 November 2009, Pages: 318–325, Marina Macca and Brunella Franco

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30224

  3. Oral–facial–digital syndromes: Review and diagnostic guidelines

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3314–3323, Fiorella Gurrieri, Brunella Franco, Helga Toriello and Giovanni Neri

    Version of Record online : 26 OCT 2007, DOI: 10.1002/ajmg.a.32032

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    Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1

    Congenital Anomalies

    Volume 53, Issue 4, December 2013, Pages: 155–159, Keiko Shimojima, Shino Shimada, Midori Sugawara, Naomi Yoshikawa, Shinichi Niijima, Masahiko Urao and Toshiyuki Yamamoto

    Version of Record online : 1 DEC 2013, DOI: 10.1111/j.1741-4520.2012.00384.x

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    Oxygen-regulated degradation of fission yeast SREBP by Ofd1, a prolyl hydroxylase family member

    The EMBO Journal

    Volume 27, Issue 10, May 21, 2008, Pages: 1491–1501, Bridget T Hughes and Peter J Espenshade

    Version of Record online : 17 APR 2008, DOI: 10.1038/emboj.2008.83

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    Oxygen-dependent binding of Nro1 to the prolyl hydroxylase Ofd1 regulates SREBP degradation in yeast

    The EMBO Journal

    Volume 28, Issue 2, January 21, 2009, Pages: 135–143, Chih-Yung S Lee, Emerson V Stewart, Bridget T Hughes and Peter J Espenshade

    Version of Record online : 21 JAN 2009, DOI: 10.1038/emboj.2008.271

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    A complex of mammalian Ufd1 and Npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways

    The EMBO Journal

    Volume 19, Issue 10, May 15, 2000, Pages: 2181–2192, Hemmo H Meyer, James G Shorter, Joachim Seemann, Darryl Pappin and Graham Warren

    Version of Record online : 15 MAY 2000, DOI: 10.1093/emboj/19.10.2181

  8. A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1

    Oral Diseases

    Volume 17, Issue 6, September 2011, Pages: 610–614, P Diz, V Álvarez-Iglesias, JF Feijoo, J Limeres, J Seoane, I Tomás and A Carracedo

    Version of Record online : 6 JUL 2011, DOI: 10.1111/j.1601-0825.2011.01823.x

  9. You have full text access to this OnlineOpen article
    The pleiotropic ABNORMAL FLOWER AND DWARF1 affects plant height, floral development and grain yield in rice

    Journal of Integrative Plant Biology

    Volume 58, Issue 6, June 2016, Pages: 529–539, Deyong Ren, Yuchun Rao, Liwen Wu, Qiankun Xu, Zizhuang Li, Haiping Yu, Yu Zhang, Yujia Leng, Jiang Hu, Li Zhu, Zhenyu Gao, Guojun Dong, Guangheng Zhang, Longbiao Guo, Dali Zeng and Qian Qian

    Version of Record online : 7 JAN 2016, DOI: 10.1111/jipb.12441

  10. A Porphyrin–Fullerene Dyad with a Supramolecular “Double-Cable” Structure as a Novel Electron Acceptor for Bulk Heterojunction Polymer Solar Cells

    Advanced Materials

    Volume 23, Issue 26, July 12, 2011, Pages: 2951–2956, Chien-Lung Wang, Wen-Bin Zhang, Ryan M. Van Horn, Yingfeng Tu, Xiong Gong, Stephen Z. D. Cheng, Yanming Sun, Minghong Tong, Junghwa Seo, Ben B. Y. Hsu and Alan J. Heeger

    Version of Record online : 17 MAY 2011, DOI: 10.1002/adma.201100399

  11. You have full text access to this OnlineOpen article
    Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

    Annals of Clinical and Translational Neurology

    Volume 3, Issue 5, May 2016, Pages: 356–365, Hirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Jun Tohyama, Mitsuhiro Kato, Mitsuko Nakashima, Yoshinori Tsurusaki, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Shigeki Kameyama and Naomichi Matsumoto

    Version of Record online : 24 MAR 2016, DOI: 10.1002/acn3.300

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    HO1 and PcyA proteins involved in phycobilin biosynthesis form a 1:2 complex with ferredoxin-1 required for photosynthesis

    FEBS Letters

    Volume 583, Issue 8, April 17, 2009, Pages: 1251–1256, Ken Okada

    Version of Record online : 27 MAR 2009, DOI: 10.1016/j.febslet.2009.03.052

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    Pistillody, homeotic transformation of stamens into pistil-like structures, caused by nuclear–cytoplasm interaction in wheat

    The Plant Journal

    Volume 29, Issue 2, January 2002, Pages: 169–181, Koji Murai, Shigeo Takumi, Hironori Koga and Yasunari Ogihara

    Version of Record online : 21 JAN 2002, DOI: 10.1046/j.0960-7412.2001.01203.x

  14. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

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    A novel eukaryotic factor for cytosolic Fe–S cluster assembly

    The EMBO Journal

    Volume 22, Issue 18, September 15, 2003, Pages: 4826–4835, Amit Roy, Natalia Solodovnikova, Tracy Nicholson, William Antholine and William E. Walden

    Version of Record online : 15 SEP 2003, DOI: 10.1093/emboj/cdg455

  16. Association Study of MTHFD1 Coding Polymorphisms R134K and R653Q With Migraine Susceptibility

    Headache: The Journal of Head and Face Pain

    Volume 54, Issue 9, October 2014, Pages: 1506–1514, Heidi G. Sutherland, Heloise Hermile, Rebecca Sanche, Saras Menon, Rod A. Lea, Larisa M. Haupt and Lyn R. Griffiths

    Version of Record online : 18 JUL 2014, DOI: 10.1111/head.12428

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    Craniofacial ciliopathies: A new classification for craniofacial disorders

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 2995–3006, Samantha A. Brugmann, Dwight R. Cordero and Jill A. Helms

    Version of Record online : 24 NOV 2010, DOI: 10.1002/ajmg.a.33727

  18. The nuclear genes Mtfr1 and Dufd1 regulate mitochondrial dynamic and cellular respiration

    Journal of Cellular Physiology

    Volume 225, Issue 3, December 2010, Pages: 767–776, Massimiliano Monticone, Isabella Panfoli, Silvia Ravera, Rossella Puglisi, Ming-Ming Jiang, Roy Morello, Simona Candiani, Laura Tonachini, Roberta Biticchi, Andrea Fabiano, Ranieri Cancedda, Carla Boitani and Patrizio Castagnola

    Version of Record online : 21 JUN 2010, DOI: 10.1002/jcp.22279

  19. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

    Human Mutation

    Volume 29, Issue 10, October 2008, Pages: 1237–1246, Clelia Prattichizzo, Marina Macca, Valeria Novelli, Giovanna Giorgio, Adriano Barra and Brunella Franco

    Version of Record online : 10 JUN 2008, DOI: 10.1002/humu.20792

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    Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

    Human Mutation

    Volume 30, Issue 2, February 2009, Pages: E320–E329, Christel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, Bernard Aral, Nadège Gigot, Anne Donzel, Lionel Van Maldergem, Eric Bieth, Valérie Layet, Michèle Mathieu, Ahmad Teebi, James Lespinasse, Patrick Callier, Francine Mugneret, Alice Masurel-Paulet, Elodie Gautier, Frédéric Huet, Jean-Raymond Teyssier, Mario Tosi, Thierry Frébourg and Laurence Faivre

    Version of Record online : 19 NOV 2008, DOI: 10.1002/humu.20888