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There are 10967 results for: content related to: Connective tissue involvement in two patients with features of cranioectodermal dysplasia

  1. Cutis Laxa and Premature Aging Syndromes

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Jeffrey M. Davidson, MariaGabriella Giro, Pages: 525–560, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch10

  2. Cutis Laxa

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Alan D. Irvine, Peter H. Hoeger, Albert C. Yan, Pages: 143.1–143.6, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch143

  3. The Ehlers-Danlos Syndrome

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Beat Steinmann, Peter M. Royce, Andrea Superti-Furga, Pages: 431–523, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch9

  4. Congenital cutis laxa and lysyl oxidase deficiency

    Clinical Genetics

    Volume 51, Issue 2, February 1997, Pages: 109–114, Abbas Khakoo, Roswyn Thomas, Richard Trompeter, Patrick Duffy, Robert Price and F. Michael Pope

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1997.tb02430.x

  5. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 111–121, Bert Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, Meghan Mac Neal, Elaine C. Davis, Joseph G.H. Lee, Aicha Salhi, Sheila Unger, Ketil Heimdal, Salome De Almeida, Uwe Kornak, Harald Gaspar, Jean-Luc Bresson, Katrina Prescott, Maria E. Gosendi, Sahar Mansour, Gérald E. Piérard, Suneeta Madan-Khetarpal, Frank C. Sciurba, Sofie Symoens, Paul J Coucke, Lionel Van Maldergem, Zsolt Urban and Anne De Paepe

    Version of Record online : 13 AUG 2012, DOI: 10.1002/humu.22165

  6. Disorders of Connective Tissue

    Rook's Textbook of Dermatology, Seventh Edition

    N. P. Burrows, C. R. Lovell, Pages: 2241–2312, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch46

  7. You have free access to this content
    The complexity of elastic fibre biogenesis in the skin – a perspective to the clinical heterogeneity of cutis laxa

    Experimental Dermatology

    Volume 22, Issue 2, February 2013, Pages: 88–92, Jouni Uitto, Qiaoli Li and Zsolt Urban

    Version of Record online : 23 OCT 2012, DOI: 10.1111/exd.12025

  8. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 965–976, Anna Rajab, U. Kornak, B. S. Budde, K. Hoffmann, J. Jaeken, P. Nürnberg and S. Mundlos

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32143

  9. Three new families with arterial tortuosity syndrome

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 2, 1 December 2004, Pages: 134–143, Marja W. Wessels, Coriene E. Catsman-Berrevoets, Grazia M.S. Mancini, Martijn H. Breuning, Jeanette J.M. Hoogeboom, Hans Stroink, Ingrid Frohn-Mulder, Paul J. Coucke, Anne De Paepe, Martinus F. Niermeijer and Patrick J. Willems

    Version of Record online : 4 NOV 2004, DOI: 10.1002/ajmg.a.30272

  10. De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 927–931, Stefania Zampatti, Marco Castori, Bjoern Fischer, Paola Ferrari, Livia Garavelli, Carlo Dionisi-Vici, Emanuele Agolini, Anita Wischmeijer, Eva Morava, Giuseppe Novelli, Johannes Häberle, Uwe Kornak and Francesco Brancati

    Version of Record online : 12 MAR 2012, DOI: 10.1002/ajmg.a.35231

  11. Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review

    Pediatric Dermatology

    Volume 30, Issue 6, November/December 2013, Pages: 665–673, Fanny Morice-Picard, Khaled Ezzedine, Marie-Ange Delrue, Benoit Arveiler, Patricia Fergelot, Alain Taïeb, Didier Lacombe and Franck Boralevi

    Version of Record online : 13 NOV 2013, DOI: 10.1111/pde.12171

  12. You have free access to this content
    Making sense of cilia in disease: The human ciliopathies

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

    Volume 151C, Issue 4, 15 November 2009, Pages: 281–295, Kate Baker and Philip L. Beales

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30231

  13. Gerodermia osteodysplastica and wrinkly skin syndrome: Are they the same?

    American Journal of Medical Genetics

    Volume 101, Issue 3, 1 July 2001, Pages: 213–220, L.I. Al-Gazali, L. Sztriha, F. Skaff and D. Haas

    Version of Record online : 4 MAY 2001, DOI: 10.1002/ajmg.1352

  14. You have free access to this content
    Index

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Peter M. Royce, Beat Steinmann, Pages: 1161–1201, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.index

  15. Cutis Laxa Type II with Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene

    Pediatric Dermatology

    Volume 30, Issue 6, November/December 2013, Pages: e265–e267, Nayereh Nouri, Omid Aryani, Narges Nouri, Behnam Kamalidehghan and Massoud Houshmand

    Version of Record online : 14 FEB 2013, DOI: 10.1111/pde.12065

  16. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 445–455, Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Hausser, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul J. Coucke, Anne De Paepe and Zsolt Urban

    Version of Record online : 1 MAR 2011, DOI: 10.1002/humu.21462

  17. Cutis Laxa Type II and Wrinkly Skin Syndrome: Distinct Phenotypes

    Pediatric Dermatology

    Volume 23, Issue 3, May 2006, Pages: 225–230, Neerja Gupta and Shubha R. Phadke

    Version of Record online : 12 JUN 2006, DOI: 10.1111/j.1525-1470.2006.00222.x

  18. Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia

    American Journal of Medical Genetics Part A

    Volume 167, Issue 9, September 2015, Pages: 2188–2196, You Li, Andrea S. Garrod, Suneeta Madan-Khetarpal, Gayathri Sreedher, Marianne McGuire, Hisato Yagi, Nikolai T. Klena, George C. Gabriel, Omar Khalifa, Maliha Zahid, Ashok Panigrahy, Daniel J. Weiner and Cecilia W. Lo

    Version of Record online : 25 APR 2015, DOI: 10.1002/ajmg.a.37133

  19. A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl

    Acta Paediatrica

    Volume 92, Issue 7, July 2003, Pages: 861–864, J Litzman, H Bučková, J Ventruba, A Holčíková, P Mikyška and J Lokaj

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2003.tb02549.x

  20. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 22, 15 November 2007, Pages: 2635–2641, Majed Dasouki, Dessislava Markova, Robert Garola, Takako Sasaki, Noe L. Charbonneau, Lynn Y. Sakai and Mon-Li Chu

    Version of Record online : 15 OCT 2007, DOI: 10.1002/ajmg.a.31980