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There are 3799 results for: content related to: WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

  1. Unmasking the ciliopathies: craniofacial defects and the primary cilium

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 4, Issue 6, November/December 2015, Pages: 637–653, Claudio R. Cortés, Vicki Metzis and Carol Wicking

    Version of Record online : 14 JUL 2015, DOI: 10.1002/wdev.199

  2. Sensenbrenner syndrome: A new member of the hepatorenal fibrocystic family

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 21, 1 November 2006, Pages: 2336–2340, Marco Zaffanello, Francesca Diomedi-Camassei, Maria Luisa Melzi, Giuliano Torre, Francesco Callea and Francesco Emma

    Version of Record online : 4 OCT 2006, DOI: 10.1002/ajmg.a.31464

  3. Ciliary disorder of the skeleton

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

    Volume 160C, Issue 3, 15 August 2012, Pages: 165–174, Celine Huber and Valerie Cormier-Daire

    Version of Record online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31336

  4. You have free access to this content
    Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2762–2776, Angela E. Lin, Avram Z. Traum, Inderneel Sahai, Kim Keppler-Noreuil, Mary K. Kukolich, Margaret P. Adam, Sjirk J. Westra and Heleen H. Arts

    Version of Record online : 3 OCT 2013, DOI: 10.1002/ajmg.a.36265

  5. In bovine brain extracts, RNAs are active factors that stimulate the proliferation of chick neuroblasts in culture

    Journal of Neuroscience Research

    Volume 11, Issue 2, 1984, Pages: 117–129, I. Barakat, Dr. M. Sensenbrenner and G. Labourdette

    Version of Record online : 11 OCT 2004, DOI: 10.1002/jnr.490110202

  6. You have free access to this content
    Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 1015–1019, Catrina M. Loucks, Jillian S. Parboosingh, Ranad Shaheen, Francois P. Bernier, D. Ross McLeod, Mohammed Z. Seidahmed, Erik G. Puffenberger, Carole Ober, Robert A. Hegele, Kym M. Boycott, Fowzan S. Alkuraya and A. Micheil Innes

    Version of Record online : 17 AUG 2015, DOI: 10.1002/humu.22843

  7. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Version of Record online : 9 JUL 2013, DOI: 10.1111/cge.12196

  8. Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1364–1368, Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska and Krystyna H. Chrzanowska

    Version of Record online : 23 MAR 2017, DOI: 10.1002/ajmg.a.38163

  9. Cell Kinetic Studies of Chick Brain Cells In Culture: an Autoradiographic Study With [3H]- and [14C]-Thymidine

    Cell Proliferation

    Volume 18, Issue 1, January 1985, Pages: 45–57, I. Barakat, H. Korr, B. Schultze-Maurer and M. Sensenbrenner

    Version of Record online : 1 MAY 2008, DOI: 10.1111/j.1365-2184.1985.tb00631.x

  10. Cranioectodermal dysplasia: A probable ciliopathy

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2206–2211, Anastasia E. Konstantinidou, Helen Fryssira, Stavros Sifakis, Charalampos Karadimas, Petros Kaminopetros, Georgios Agrogiannis, Stylianos Velonis, Peter G.J. Nikkels and Efstratios Patsouris

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33013

  11. Stimulation of chick neuroblast proliferation in culture by brain extracts

    Journal of Neuroscience Research

    Volume 8, Issue 2-3, 1982, Pages: 303–314, I. Barakat, M. Sensenbrenner and G. Labourdette

    Version of Record online : 11 OCT 2004, DOI: 10.1002/jnr.490080220

  12. Biochemical and Ultrastructural Studies of Cultured Rat Astroglial Cells

    Differentiation

    Volume 17, Issue 1-3, December 1980, Pages: 51–61, M. SENSENBRENNER, G. DEVILLIERS, E. BOCK and A. PORTE

    Version of Record online : 31 JUL 2006, DOI: 10.1111/j.1432-0436.1980.tb01081.x

  13. Connective tissue involvement in two patients with features of cranioectodermal dysplasia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2212–2215, Andrew E. Fry, Claus Klingenberg, Jean Matthes, Ketil Heimdal, Raoul C.M. Hennekam and Daniela T. Pilz

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33027

  14. 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

  15. Effects of acidic and basic fibroblast growth factors (aFGF and bFGF) on the proliferation and the glutamine synthetase expression of rat astroblasts in culture

    Glia

    Volume 1, Issue 2, 1988, Pages: 124–131, Frédéric Perraud, François Besnard, Brigitte Pettmann, Monique Sensenbrenner and Gérard Labourdette

    Version of Record online : 12 OCT 2004, DOI: 10.1002/glia.440010204

  16. Comparison of the morphological effects of acidic and basic fibroblast growth factors on rat astroblasts in culture

    Journal of Neuroscience Research

    Volume 20, Issue 1, May 1988, Pages: 1–11, F. Perraud, G. Labourdette, M. Miehe, C. Loret and Dr. M. Sensenbrenner

    Version of Record online : 11 OCT 2004, DOI: 10.1002/jnr.490200102

  17. Immunocytochemical demonstration of fibroblast growth factor in cultured chick and rat neurons

    Journal of Neuroscience Research

    Volume 19, Issue 2, February 1988, Pages: 195–201, T. Janet, C. Grothe, B. Pettmann, K. Unsicker and Dr. M. Sensenbrenner

    Version of Record online : 19 OCT 2004, DOI: 10.1002/jnr.490190204

  18. Proliferation of chick embryo neuroblasts grown in the presence of horse serum requires exogenous transferrin

    Journal of Neuroscience Research

    Volume 28, Issue 3, March 1991, Pages: 391–398, Dr. I. Barakat-Walter, J. C. Deloulme, Dr. M. Sensenbrenner and G. Labourdette

    Version of Record online : 11 OCT 2004, DOI: 10.1002/jnr.490280311

  19. TRACER KINETIC MODEL ANALYSIS OF POTASSIUM UPTAKE BY DISSOCIATED NERVE CELL CULTURES: GLIAL-NEURONAL INTERRELATIONSHIP

    Journal of Neurochemistry

    Volume 23, Issue 1, July 1974, Pages: 193–200, L. Latzkovits, M. Sensenbrenner and P. Mandel

    Version of Record online : 4 OCT 2006, DOI: 10.1111/j.1471-4159.1974.tb06934.x

  20. Basic fibroblast growth factor (bFGF) and rat C6 glioma cells: Regulation of expression, absence of release, and response to exogenous bFGF

    Glia

    Volume 3, Issue 6, 1990, Pages: 510–521, Dr. Reiner Westermann and Klaus Unsicker

    Version of Record online : 12 OCT 2004, DOI: 10.1002/glia.440030610