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There are 7846 results for: content related to: Growth and development in thanatophoric dysplasia – an update 25 years later

  1. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2385–2389, D.K. Waller, A. Correa, Tuan M. Vo, Y. Wang, C. Hobbs, P.H. Langlois, K. Pearson, P.A. Romitti, G.M. Shaw and J.T. Hecht

    Article first published online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32485

  2. Some chondrodysplasias with short limbs: Molecular perspectives

    American Journal of Medical Genetics

    Volume 112, Issue 3, 15 October 2002, Pages: 304–313, M. Michael Cohen , Jr.

    Article first published online : 27 AUG 2002, DOI: 10.1002/ajmg.10780

  3. Fetal Skeletal Anomalies

    Clinical Obstetrics: The Fetus & Mother, Third Edition

    Luís F. Gonçalves, Patricia L. Devers, Jimmy Espinoza, Roberto Romero, Pages: 401–472, 2008

    Published Online : 14 JAN 2008, DOI: 10.1002/9780470753293.ch26

  4. You have free access to this content
    Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis

    Ultrasound in Obstetrics & Gynecology

    Volume 8, Issue 1, 1 July 1996, Pages: 62–67, Dr R. L. Schild, G. H. Hunt, J. Moore, H. Davies and D. H. Horwell

    Article first published online : 22 JAN 2003, DOI: 10.1046/j.1469-0705.1996.08010062.x

  5. THANATOPHORIC DYSPLASIA

    Acta Pathologica Microbiologica Scandinavica Series A :Pathology

    Volume 91A, Issue 1-6, July 1983, Pages: 335–341, Lennart Sundkvist

    Article first published online : 15 AUG 2009, DOI: 10.1111/j.1699-0463.1983.tb02764.x

  6. Thanatophoric dysplasia: An autosomal dominant condition?

    American Journal of Medical Genetics

    Volume 31, Issue 4, December 1988, Pages: 815–820, M. L. Martínez-Frías, M. A. Ramos-Arroyo, J. Salvador, John M. Opitz and James F. Reynolds

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320310414

  7. THANATOPHORIC DYSPLASIA OF IDENTICAL TWINS

    Pathology International

    Volume 31, Issue 5, September 1981, Pages: 895–902, Daiji Sato, Yoshiaki Hosokawa, Yasuhiro Nakamuba, Toshihiko Mukae, Teruyuki Nakashima, Yoshiharu Komatsu and Shyoichi Kabashima

    Article first published online : 12 DEC 2008, DOI: 10.1111/j.1440-1827.1981.tb02814.x

  8. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

    American Journal of Medical Genetics

    Volume 104, Issue 4, 15 December 2001, Pages: 277–281, Gianni Camera, Maurizia Baldi, Giuseppe Strisciuglio, Daniela Concolino, Pierpaolo Mastroiacovo and Maria Baffico

    Article first published online : 23 OCT 2001, DOI: 10.1002/ajmg.10092

  9. Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia

    Ultrasound in Obstetrics & Gynecology

    D. C. Wang, P. Shannon, A. Toi, D. Chitayat, U. Mohan, E. Barkova, S. Keating, G. Tomlinson and P. Glanc

    Article first published online : 12 OCT 2014, DOI: 10.1002/uog.13337

  10. High-output cardiac failure in a fetus with thanatophoric dysplasia associated with large placental chorioangioma: Case report

    Journal of Clinical Ultrasound

    Volume 40, Issue 4, May 2012, Pages: 231–233, Fuat Akercan, Sevtap Oncul Seyfettinoglu, Burak Zeybek and Teksin Cirpan

    Article first published online : 16 AUG 2011, DOI: 10.1002/jcu.20865

  11. You have free access to this content
    Strawberry-shaped skull in fetal thanatophoric dysplasia

    Ultrasound in Obstetrics & Gynecology

    Volume 4, Issue 5, 1 September 1994, Pages: 434–436, R. Seymour and Dr A. Jones

    Article first published online : 5 MAR 2003, DOI: 10.1046/j.1469-0705.1994.04050434.x

  12. Cloverleaf Skull and Bone Dysplasias (Report of four cases)

    Australasian Radiology

    Volume 31, Issue 3, August 1987, Pages: 309–314, K. KOZLOWSKI, S. JEQUIER, D. SILLENCE and D.H. MOIR

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1440-1673.1987.tb01838.x

  13. The new bone biology: Pathologic, molecular, and clinical correlates

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2646–2706, M. Michael Cohen Jr.

    Article first published online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31368

  14. Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel)

    Congenital Anomalies

    Volume 54, Issue 4, November 2014, Pages: 228–232, Gabriele Tonni, Marcella Palmisano, Vladimiro Ginocchi, Alessandro Ventura, Maurizia Baldi and Ave Maria Baffico

    Article first published online : 23 OCT 2014, DOI: 10.1111/cga.12056

  15. Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases

    Clinical Genetics

    E. Barkova, U. Mohan, D. Chitayat, S. Keating, A. Toi, J. Frank, R. Frank, G. Tomlinson and P. Glanc

    Article first published online : 26 JUL 2014, DOI: 10.1111/cge.12434

  16. Prenatal diagnosis of thanatophoric dysplasia at 24 weeks

    American Journal of Medical Genetics

    Volume 18, Issue 1, May 1984, Pages: 39–43, Dr. Gianni Camera, Danilo Dodero and Sergio De Pascale

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320180107

  17. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

    American Journal of Medical Genetics

    Volume 78, Issue 3, 7 July 1998, Pages: 274–281, William R. Wilcox, Patricia L. Tavormina, Deborah Krakow, Hiroshi Kitoh, Ralph S. Lachman, John J. Wasmuth, Leslie M. Thompson and David L. Rimoin

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980707)78:3<274::AID-AJMG14>3.0.CO;2-C

  18. Thanatophoric dysplasia: Fetal manifestations and prenatal diagnosis

    American Journal of Medical Genetics

    Volume 22, Issue 4, December 1985, Pages: 669–683, Dr. B. Rafael Elejalde, Maria Mercedes De Elejalde, John M. Opitz and James F. Reynolds

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320220404

  19. Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3

    American Journal of Medical Genetics

    Volume 63, Issue 1, 3 May 1996, Pages: 155–160, Andreas G. Nerlich, Peter Freisinger and Jacky Bonaventure

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960503)63:1<155::AID-AJMG27>3.0.CO;2-M

  20. Thanatophoric Dysplasia

    Pathology International

    Volume 34, Issue 2, March 1984, Pages: 389–398, Takuji Tanaka, Akiyoshi Nishikawa, Seiji Yamaguchi, Tetsuhiko Taguchi, Shigeyuki Sugie, Hiroto Shima, Masahiko Fujii, Hideki Mori and Masayoshi Takahashi

    Article first published online : 20 JAN 2011, DOI: 10.1111/j.1440-1827.1984.tb07566.x