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There are 2719 results for: content related to: Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes

  1. Stickler syndrome: Clinical characteristics and diagnostic criteria

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 3, 15 October 2005, Pages: 199–207, Peter S. Rose, Howard P. Levy, Ruth M. Liberfarb, Joie Davis, Y. Szymko-Bennett, Benjamin I. Rubin, Ekaterini Tsilou, Andrew J. Griffith and Clair A. Francomano

    Article first published online : 8 SEP 2005, DOI: 10.1002/ajmg.a.30955

  2. Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability

    American Journal of Medical Genetics

    Volume 90, Issue 5, 28 February 2000, Pages: 398–406, Susanna Freddi, Ravi Savarirayan and John F. Bateman

    Article first published online : 23 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000228)90:5<398::AID-AJMG10>3.0.CO;2-7


    ANZ Journal of Surgery

    Volume 78, Issue 9, September 2008, Pages: 764–766, Kai H. Lee and Peter Hayward

    Article first published online : 21 AUG 2008, DOI: 10.1111/j.1445-2197.2008.04645.x

  4. Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons

    American Journal of Medical Genetics

    Volume 94, Issue 2, 11 September 2000, Pages: 141–148, Douglas J. Wilkin, Ruth Liberfarb, Joie Davis, Howard P. Levy, William G. Cole, Clair A. Francomano and Daniel H. Cohn

    Article first published online : 7 SEP 2000, DOI: 10.1002/1096-8628(20000911)94:2<141::AID-AJMG6>3.0.CO;2-A

  5. Stickler Syndrome

    Standard Article

    Management of Genetic Syndromes

    Clair Francomano, Douglas J. Wilkin and Ruth M. Liberfarb

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs045

  6. Vitreous phenotype: A key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 6, 15 March 2007, Pages: 604–607, Alan Ang, Tsiang Ung, Narman Puvanachandra, Louise Wilson, Frances Howard, Michael Ryalls, Allan Richards, Sarah Meredith, Maureen Laidlaw, Arabella Poulson, John Scott and Martin Snead

    Article first published online : 22 FEB 2007, DOI: 10.1002/ajmg.a.31527

  7. The role of enlarged adenoids in the aetiology of serous otitis media

    Clinical Otolaryngology & Allied Sciences

    Volume 7, Issue 4, August 1982, Pages: 253–256, J. HIBBERT and P. M. STELL

    Article first published online : 2 AUG 2007, DOI: 10.1111/j.1365-2273.1982.tb01392.x

  8. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1668–1672, Stuart Baker, Carol Booth, Corrine Fillman, Michael Shapiro, Michael P. Blair, James C. Hyland and Leena Ala-Kokko

    Article first published online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34071

  9. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 282–286, I. Schrauwen, M. Sommen, C. Claes, J. Pinner, M. Flaherty, F. Collins and G. Van Camp

    Article first published online : 23 SEP 2013, DOI: 10.1111/cge.12265

  10. Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2601–2606, O. Khalifa, F. Imtiaz, K. Ramzan, R. Allam, A. Al- Hemidan, E. Faqeih, G. Abuharb, A. Balobaid, N. Sakati and M. Al- Owain

    Article first published online : 29 JUL 2014, DOI: 10.1002/ajmg.a.36681

  11. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 3, 1 February 2007, Pages: 258–264, Marja Majava, Kristien P. Hoornaert, Deborah Bartholdi, Mieke C. Bouma, Katelijne Bouman, Marta Carrera, Koenraad Devriendt, Jane Hurst, George Kitsos, Dunja Niedrist, Michael B. Petersen, Debbie Shears, Irene Stolte-Dijkstra, J.M. Van Hagen, Leena Ala-Kokko, Minna Männikkö and Geert R. Mortier

    Article first published online : 18 JAN 2007, DOI: 10.1002/ajmg.a.31586

  12. Prevalence of mitral valve prolapse in Stickler syndrome

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 3, 30 January 2003, Pages: 234–237, Nadeem Ahmad, Allan J. Richards, Helen C. Murfett, Leonard Shapiro, John D. Scott, John R.W. Yates, Joanne Norton and Martin P. Snead

    Article first published online : 18 SEP 2002, DOI: 10.1002/ajmg.a.10619

  13. Postnatal remission of ocular, auditory, and somatic findings in Stickler syndrome

    Pediatrics International

    Volume 46, Issue 5, October 2004, Pages: 605–608, Takehisa Fujiwaki, Gen Nishimura, Hirofumi Ohashi, Kazuyuki Ito, Shigeyasu Kazama and Chihiro Ishioka

    Article first published online : 15 OCT 2004, DOI: 10.1111/j.1442-200x.2004.01934.x

  14. Robin Sequence

    Standard Article

    Management of Genetic Syndromes

    Robert J. Shprintzen

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs039

  15. You have free access to this content
    Hearing Loss in the Nonocular Stickler Syndrome Caused by a COL11A2 Mutation

    The Laryngoscope

    Volume 110, Issue 3, March 2000, Pages: 457–461, Ronald J. C. Admiraal, Han G. Brunner, Tjard L. Dijkstra, Patrick L. M. Huygen and Cor W. R. J. Cremers

    Article first published online : 2 JAN 2009, DOI: 10.1097/00005537-200003000-00025

  16. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

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

    Volume 160C, Issue 3, 15 August 2012, Pages: 205–216, Paulien A. Terhal, Paula van Dommelen, Martine Le Merrer, Andreas Zankl, Marleen E.H. Simon, Sarah F. Smithson, Carlo Marcelis, Bronwyn Kerr, Esther Kinning, Sahar Mansour, Raoul C.M. Hennekam, Annemarie H. van der Hout, Valerie Cormier-Daire, Allan M. Lund, Linda Goodwin, André Mégarbané, Melissa Lees, Regina C. Betz, Edward S. Tobias, Paul Coucke and Geert R. Mortier

    Article first published online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31332

  17. Unusual causes of unilateral serous otitis media

    The Laryngoscope

    Volume 90, Issue 8, August 1980, Pages: 1305–1312, George W. Facer, David G. Piepgras, Louis H. Weiland and Bahram Mokri

    Article first published online : 5 JAN 2009, DOI: 10.1288/00005537-198008000-00007

  18. COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2663–2665, Céline Dupont, Clarisse Baumann, Nathalie Le Du, Elise Schaefer, Fabien Guimiot, Lucile Boutaud, Yline Capri, Emmanuel Spaggiari, Azzedine Aboura, Brigitte Benzacken and Anne-Claude Tabet

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36081

  19. Clinical phenotypes associated with type II collagen mutations

    Journal of Paediatrics and Child Health

    Volume 48, Issue 2, February 2012, Pages: E38–E43, Peter Kannu, John Bateman and Ravi Savarirayan

    Article first published online : 18 FEB 2011, DOI: 10.1111/j.1440-1754.2010.01979.x

  20. Laser-Assisted Tympanostomy

    The Laryngoscope

    Volume 106, Issue 9, September 1996, Pages: 1067–1074, Herbert Silverstein, Jeffery Kuhn, Dan Choo, Yosef P. Krespi, Seth I Rosenberg and Philip T. Rowan

    Article first published online : 4 JAN 2009, DOI: 10.1097/00005537-199609000-00005