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There are 5301 results for: content related to: Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan

  1. IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 28–34, E.J. Leslie, D.C. Koboldt, C.J. Kang, L. Ma, J.T. Hecht, G.L. Wehby, K. Christensen, A.E. Czeizel, F.W.-B. Deleyiannis, R.S. Fulton, R.K. Wilson, T.H. Beaty, B.C. Schutte, J.C. Murray and M.L. Marazita

    Version of Record online : 1 OCT 2015, DOI: 10.1111/cge.12675

  2. You have free access to this content
    Toward an orofacial gene regulatory network

    Developmental Dynamics

    Volume 245, Issue 3, March 2016, Pages: 220–232, Youssef A. Kousa and Brian C. Schutte

    Version of Record online : 17 SEP 2015, DOI: 10.1002/dvdy.24341

  3. IRF6 expression in basal epithelium partially rescues Irf6 knockout mice

    Developmental Dynamics

    Youssef A. Kousa, Dina Moussa and Brian C. Schutte

    Version of Record online : 19 JUL 2017, DOI: 10.1002/dvdy.24537

  4. Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 247–256, S Malik, N Kakar, S Hasnain, J Ahmad, ER Wilcox and S Naz

    Version of Record online : 9 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01375.x

  5. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 441–449, R.J. Pengelly, R. Upstill-Goddard, L. Arias, J. Martinez, J. Gibson, M. Knut, A.L. Collins, S. Ennis, A. Collins and I. Briceno

    Version of Record online : 6 JAN 2015, DOI: 10.1111/cge.12547

  6. Generation and characterization of a conditional allele of Interferon Regulatory Factor 6

    genesis

    Volume 55, Issue 7, July 2017, Arianna L. Smith, Youssef A. Kousa, Akira Kinoshita, Kate Fodor, Baoli Yang and Brian C. Schutte

    Version of Record online : 22 JUN 2017, DOI: 10.1002/dvg.23038

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    The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa

    Molecular Genetics & Genomic Medicine

    Volume 5, Issue 2, March 2017, Pages: 164–171, Lord Jephthah Joojo Gowans, Tamara D. Busch, Peter A. Mossey, Mekonen A. Eshete, Wasiu L. Adeyemo, Babatunde Aregbesola, Peter Donkor, Fareed K. N. Arthur, Pius Agbenorku, James Olutayo, Peter Twumasi, Rahman Braimah, Alexander A. Oti, Gyikua Plange-Rhule, Solomon Obiri-Yeboah, Fikre Abate, Paa E. Hoyte-Williams, Taye Hailu, Jeffrey C. Murray and Azeez Butali

    Version of Record online : 12 JAN 2017, DOI: 10.1002/mgg3.273

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    Developmental expression analysis of the mouse and chick orthologues of IRF6: The gene mutated in Van der Woude syndrome

    Developmental Dynamics

    Volume 235, Issue 5, May 2006, Pages: 1441–1447, Alexandra S. Knight, Brian C. Schutte, Rulang Jiang and Michael J. Dixon

    Version of Record online : 21 OCT 2005, DOI: 10.1002/dvdy.20598

  9. Haploinsufficiency of interferon regulatory factor 6 alters brain morphology in the mouse

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 655–660, Andrea Aerts, Ian DeVolder, Seth M. Weinberg, Dan Thedens, Martine Dunnwald, Brian C. Schutte and Peg Nopoulos

    Version of Record online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36333

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    Tissue- and development-dependent expression of the small GTPase Arf6 in mice

    Developmental Dynamics

    Volume 239, Issue 12, December 2010, Pages: 3416–3435, Masahiro Akiyama, Miao Zhou, Rika Sugimoto, Tsunaki Hongu, Momoko Furuya, Yuji Funakoshi, Mitsuyasu Kato, Hiroshi Hasegawa and Yasunori Kanaho

    Version of Record online : 10 NOV 2010, DOI: 10.1002/dvdy.22481

  11. Search for genetic modifiers of IRF6 and genotype–phenotype correlations in Van der Woude and popliteal pterygium syndromes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2535–2544, Elizabeth J. Leslie, Jennifer L. Mancuso, Brian C. Schutte, Margaret E. Cooper, Kate M. Durda, Jamie L'Heureux, Theresa M. Zucchero, Mary L. Marazita and Jeffrey C. Murray

    Version of Record online : 15 AUG 2013, DOI: 10.1002/ajmg.a.36133

  12. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1314–1321, Nicholas K. Rorick, Akira Kinoshita, Jason L. Weirather, Myriam Peyrard-Janvid, Renata L. L. Ferreira de Lima, Martine Dunnwald, Alan L. Shanske, Danilo Moretti-Ferreira, Hannele Koillinen, Juha Kere, Maria A. Mansilla, Jeffrey C. Murray, Steve L. Goudy and Brian C. Schutte

    Version of Record online : 13 MAY 2011, DOI: 10.1002/ajmg.a.33980

  13. Association of common variants, not rare mutations, in IRF6 With nonsyndromic clefts in a honduran population

    The Laryngoscope

    Volume 121, Issue 8, August 2011, Pages: 1756–1759, Yuna C. Larrabee, Andrew C. Birkeland, David T. Kent, Carlos Flores, Gloria H. Su, Joseph H. Lee and Joseph Haddad Jr.

    Version of Record online : 25 JUL 2011, DOI: 10.1002/lary.21870

  14. IRF6 mutations in mixed isolated familial clefting

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3107–3109, Katherine D. Rutledge, Christina Barger, John H. Grant and Nathaniel H. Robin

    Version of Record online : 16 NOV 2010, DOI: 10.1002/ajmg.a.33053

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    MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63

    Developmental Dynamics

    Volume 241, Issue 2, February 2012, Pages: 340–349, Walid D. Fakhouri, Lindsey Rhea, Tianli Du, Eileen Sweezer, Harris Morrison, David Fitzpatrick, Baoli Yang, Martine Dunnwald and Brian C. Schutte

    Version of Record online : 23 NOV 2011, DOI: 10.1002/dvdy.22786

  16. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1319–1322, Fernanda Sarquis Jehee, Beatriz A. Burin, Kátia M. Rocha, Roseli Zechi-Ceide, Daniela F. Bueno, Luciano Brito, Josiane Souza, Gabriela Ferraz Leal, Antonio Richieri-Costa, Nivaldo Alonso, Paulo A. Otto and Maria Rita Passos-Bueno

    Version of Record online : 15 MAY 2009, DOI: 10.1002/ajmg.a.32849

  17. A novel mutation in IRF6 resulting in VWS–PPS spectrum disorder with renal aplasia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1605–1608, Filipe de Medeiros, Lars Hansen, Evete Mawlad, Hans Eiberg, Camilla Asklund, Niels Tommerup and Linda P. Jakobsen

    Version of Record online : 13 MAY 2008, DOI: 10.1002/ajmg.a.32257

  18. Regional regulation of Filiform tongue papillae development by Ikkα/Irf6

    Developmental Dynamics

    Volume 245, Issue 9, September 2016, Pages: 937–946, Maiko Kawasaki, Katsushige Kawasaki, Shelly Oommen, James Blackburn, Momoko Watanabe, Takahiro Nagai, Atsushi Kitamura, Takeyasu Maeda, Bigang Liu, Ruth Schmidt-Ullrich, Taishin Akiyama, Jun-Ichiro Inoue, Nigel L. Hammond, Paul T. Sharpe and Atsushi Ohazama

    Version of Record online : 13 JUL 2016, DOI: 10.1002/dvdy.24427

  19. The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population

    The Laryngoscope

    Volume 119, Issue 9, September 2009, Pages: 1759–1764, Gillian R. Diercks, Tom T. Karnezis, David T. Kent, Carlos Flores, Gloria H. Su, Joseph H. Lee and Joseph Haddad Jr.

    Version of Record online : 17 JUN 2009, DOI: 10.1002/lary.20512

  20. Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 6, 15 March 2008, Pages: 787–790, Stefanie Birnbaum, Heiko Reutter, Carola Lauster, Martin Scheer, Gül Schmidt, Mitra Saffar, Markus Martini, Alexander Hemprich, Henning Henschke, Franz-Josef Kramer and Elisabeth Mangold

    Version of Record online : 4 FEB 2008, DOI: 10.1002/ajmg.a.32219