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There are 12262 results for: content related to: Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome

  1. Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

    American Journal of Medical Genetics Part A

    Volume 155, Issue 8, August 2011, Pages: 1949–1958, Kenji Shimizu, Nobuhiko Okamoto, Noriko Miyake, Katsuaki Taira, Yumiko Sato, Keiko Matsuda, Noriko Akimaru, Hirofumi Ohashi, Keiko Wakui, Yoshimitsu Fukushima, Naomichi Matsumoto and Tomoki Kosho

    Version of Record online : 8 JUL 2011, DOI: 10.1002/ajmg.a.34115

  2. Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient adducted thumb–clubfoot syndrome”

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 484–485, Andreas R. Janecke, Jacques U. Baenziger, Thomas Müller and Munis Dündar

    Version of Record online : 15 MAR 2011, DOI: 10.1002/humu.21440

  3. You have free access to this content
    A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient Adducted Thumb–Clubfoot Syndrome”. Which name is appropriate, “Adducted Thumb–Clubfoot Syndrome” or “Ehlers–Danlos syndrome”?

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1507–1509, Tomoki Kosho, Noriko Miyake, Shuji Mizumoto, Atsushi Hatamochi, Yoshimitsu Fukushima, Shuhei Yamada, Kazuyuki Sugahara and Naomichi Matsumoto

    Version of Record online : 30 SEP 2011, DOI: 10.1002/humu.21586

  4. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

    Human Mutation

    Volume 31, Issue 11, November 2010, Pages: 1233–1239, Fransiska Malfait, Delfien Syx, Philip Vlummens, Sofie Symoens, Sheela Nampoothiri, Trinh Hermanns-Lê, Lut Van Laer and Anne De Paepe

    Version of Record online : 28 OCT 2010, DOI: 10.1002/humu.21355

  5. Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1344–1354, Roberto Mendoza-Londono, David Chitayat, Walter H.A. Kahr, Aleksander Hinek, Susan Blaser, Lucie Dupuis, Elaine Goh, Ramses Badilla-Porras, Andrew Howard, Laureane Mittaz, Andrea Superti-Furga, Sheila Unger, Gen Nishimura and Luisa Bonafe

    Version of Record online : 11 MAY 2012, DOI: 10.1002/ajmg.a.35339

  6. Prenatal screening for clubfoot: what factors predict prenatal detection?

    Prenatal Diagnosis

    Volume 34, Issue 4, April 2014, Pages: 389–393, Susan T. Mahan, Mahsa M. Yazdy, James R. Kasser and Martha M. Werler

    Version of Record online : 4 FEB 2014, DOI: 10.1002/pd.4320

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    CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndrome

    Pediatrics International

    Volume 58, Issue 2, February 2016, Pages: 88–99, Tomoki Kosho

    Version of Record online : 10 FEB 2016, DOI: 10.1111/ped.12878

  8. Studies of TBX4 and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1620–1627, W. Lu, C.A. Bacino, B.S. Richards, C. Alvarez, J.E. VanderMeer, M. Vella, N. Ahituv, N. Sikka, F.R. Dietz, S.H. Blanton and J.T. Hecht

    Version of Record online : 7 JUN 2012, DOI: 10.1002/ajmg.a.35418

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    Outcome of prenatally diagnosed isolated clubfoot

    Ultrasound in Obstetrics & Gynecology

    Volume 35, Issue 6, June 2010, Pages: 708–714, S. Lauson, C. Alvarez, M. S. Patel and S. Langlois

    Version of Record online : 12 JAN 2010, DOI: 10.1002/uog.7558

  10. Maternal Cigarette, Alcohol, and Coffee Consumption in Relation to Risk of Clubfoot

    Paediatric and Perinatal Epidemiology

    Volume 29, Issue 1, January 2015, Pages: 3–10, Martha M. Werler, Mahsa M. Yazdy, James R. Kasser, Susan T. Mahan, Robert E. Meyer, Marlene Anderka, Charlotte M. Druschel and Allen A. Mitchell

    Version of Record online : 24 NOV 2014, DOI: 10.1111/ppe.12163

  11. Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center

    Journal of Clinical Ultrasound

    Volume 44, Issue 2, February 2016, Pages: 100–105, Benjamin Viaris de le Segno, Nicolas Gruchy, Corinne Bronfen, Patricia Dolley, Nathalie Leporrier, Christian Creveuil and Guillaume Benoist

    Version of Record online : 14 JUL 2015, DOI: 10.1002/jcu.22275

  12. Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 850–855, N.C. Voermans, M. Kempers, M. Lammens, N. van Alfen, M.C. Janssen, C. Bönnemann, B.G. van Engelen and B.C. Hamel

    Version of Record online : 9 MAR 2012, DOI: 10.1002/ajmg.a.35232

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    Outcome of Fetuses With Clubfeet Diagnosed by Prenatal Sonography

    Journal of Ultrasound in Medicine

    Volume 23, Issue 4, April 2004, Pages: 497–500, Leena Mammen and Carol B. Benson

    Version of Record online : 1 APR 2004, DOI: 10.7863/jum.2004.23.4.497

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    Assessment of the three-dimensional relationship of the ossific nuclei and cartilaginous anlagen in congenital clubfoot by 3-D MRI

    Journal of Orthopaedic Research

    Volume 23, Issue 5, September 2005, Pages: 1160–1164, Tomonobu Itohara, Kazuomi Sugamoto, Nobuyiki Shimizu, Ikko Ohno, Hisashi Tanaka, Yoshikazu Nakajima, Yoshinobu Sato and Hideki Yoshikawa

    Version of Record online : 1 JAN 2006, DOI: 10.1016/j.orthres.2005.02.004

  15. Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2745–2752, Audrey R. Ester, Katelyn S. Weymouth, Amber Burt, Carol A. Wise, Allison Scott, Christina A. Gurnett, Matthew B. Dobbs, Susan H. Blanton and Jacqueline T. Hecht

    Version of Record online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33130

  16. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 103–115, Andreas R. Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek and Beat Steinmann

    Version of Record online : 16 SEP 2015, DOI: 10.1002/ajmg.a.37383

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    Maternal attitudes towards prenatal diagnosis of idiopathic clubfoot

    Ultrasound in Obstetrics & Gynecology

    Volume 37, Issue 6, June 2011, Pages: 658–662, C. Radler, A. K. Myers, R. D. Burghardt, P. P. Arrabal, J. E. Herzenberg and F. Grill

    Version of Record online : 3 MAY 2011, DOI: 10.1002/uog.8932

  18. Antenatal sonographic diagnosis of congenital clubfoot: A possible indication for amniocentesis

    Journal of Clinical Ultrasound

    Volume 14, Issue 9, November/December 1986, Pages: 703–706, Beryl R. Benacerraf

    Version of Record online : 2 DEC 2005, DOI: 10.1002/jcu.1870140907

  19. Sonographic assessment of clubfoot

    Journal of Clinical Ultrasound

    Volume 32, Issue 5, June 2004, Pages: 235–242, Cosimo Gigante, E. Talenti and S. Turra

    Version of Record online : 28 APR 2004, DOI: 10.1002/jcu.20022

  20. Ponseti management of clubfoot after walking age

    Pediatrics International

    Volume 53, Issue 1, February 2011, Pages: 85–89, Mehmet Fırat Yagmurlu, Mehmet Nurullah Ermis, Huseyin Emre Akdeniz, Erkin Kesin and Eyup Selahattin Karakas

    Version of Record online : 15 MAR 2011, DOI: 10.1111/j.1442-200X.2010.03201.x