Search Results

There are 15154 results for: content related to: MBTPS2 mutation causes BRESEK/BRESHECK syndrome

  1. Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 587–594, Dorothea Bornholdt, T. Prescott Atkinson, Bakar Bouadjar, Benoit Catteau, Helen Cox, Deepthi De Silva, Judith Fischer, Chalukya N. Gunasekera, Smaïl Hadj-Rabia, Rudolf Happle, Muriel Holder-Espinasse, Elke Kaminski, Arne König, André Mégarbané, Hala Mégarbané, Ulrike Neidel, Frank Oeffner, Vinzenz Oji, Amy Theos, Heiko Traupe, Anders Vahlquist, Bregje W. van Bon, Marie Virtanen and Karl-Heinz Grzeschik

    Version of Record online : 8 MAR 2013, DOI: 10.1002/humu.22275

  2. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2

    Clinical and Experimental Dermatology

    Volume 40, Issue 5, July 2015, Pages: 529–532, K. Fong, T. Takeichi, L. Liu, R. Pramanik, J. Lee, M. Akiyama and J. A. McGrath

    Version of Record online : 16 FEB 2015, DOI: 10.1111/ced.12587

  3. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

    Human Mutation

    Volume 31, Issue 10, October 2010, Pages: 1125–1133, Emmelien Aten, Lisa C. Brasz, Dorothea Bornholdt, Ingeborg B. Hooijkaas, Mary E. Porteous, Virginia P. Sybert, Maarten H. Vermeer, Rolf H.A.M. Vossen, Michiel J.R. van der Wielen, Egbert Bakker, Martijn H. Breuning, Karl-Heinz Grzeschik, Jan C. Oosterwijk and Johan T. den Dunnen

    Version of Record online : 7 SEP 2010, DOI: 10.1002/humu.21335

  4. Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient

    Clinical and Experimental Dermatology

    Volume 39, Issue 2, March 2014, Pages: 158–161, H. J. Wang, Z. L. Tang, Z. M. Lin, L. L. Dai, Q. Chen and Y. Yang

    Version of Record online : 7 DEC 2013, DOI: 10.1111/ced.12248

  5. MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans

    Clinical and Experimental Dermatology

    Volume 37, Issue 6, August 2012, Pages: 631–634, K. Fong, E. K. Wedgeworth, J. E. Lai-Cheong, I. Tosi, J. E. Mellerio, A. M. Powell and J. A. McGrath

    Version of Record online : 19 JUL 2012, DOI: 10.1111/j.1365-2230.2011.04288.x

  6. You have free access to this content
    Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

    Experimental Dermatology

    Volume 20, Issue 5, May 2011, Pages: 447–449, Frank Oeffner, Francisco Martinez, Julie Schaffer, Aïcha Salhi, Sandra Monfort, Silvestre Oltra, Ulrike Neidel, Dorothea Bornholdt, Bregje van Bon, Arne König, Rudolf Happle and Karl-Heinz Grzeschik

    Version of Record online : 22 MAR 2011, DOI: 10.1111/j.1600-0625.2010.01238.x

  7. A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family

    British Journal of Dermatology

    Volume 163, Issue 4, October 2010, Pages: 886–889, Y.G. Ding, J.Y. Wang, J.J. Qiao, X.H. Mao and S.Q. Cai

    Version of Record online : 9 JUN 2010, DOI: 10.1111/j.1365-2133.2010.09890.x

  8. Novel MBTPS2 Missense Mutation in the N-Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome

    Pediatric Dermatology

    Volume 30, Issue 6, November/December 2013, Pages: e263–e264, Kosuke Izumi, Alisha Wilkens, James R. Treat, Howard B. Pride and Ian D. Krantz

    Version of Record online : 3 APR 2013, DOI: 10.1111/pde.12115

  9. Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia)

    American Journal of Medical Genetics

    Volume 85, Issue 4, 6 August 1999, Pages: 365–368, A. König and R. Happle

    Version of Record online : 8 JUL 1999, DOI: 10.1002/(SICI)1096-8628(19990806)85:4<365::AID-AJMG12>3.0.CO;2-#

  10. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 3, 30 January 2004, Pages: 323–327, Hala Mégarbané, Cynthia Zablit, Naji Waked, Gérard Lefranc, Roland Tomb and André Mégarbané

    Version of Record online : 12 JUN 2003, DOI: 10.1002/ajmg.a.20352

  11. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter

    British Journal of Dermatology

    Volume 142, Issue 1, January 2000, Pages: 157–162, K.C. Sato-Matsumura, T. Matsumura, M. Kumakiri, K. Hosokawa, H. Nakamura, H. Kobayashi and A. Ohkawara

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1365-2133.2000.03260.x

  12. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Clinical and neuropathological observations in a 33-year-old man

    American Journal of Medical Genetics

    Volume 78, Issue 4, 24 July 1998, Pages: 371–377, K. Keyvani, W. Paulus, H. Traupe, F. Kiesewetter, C. Cursiefen, W. Huk, K. Raab, U. Orth, A. Rauch and R.A. Pfeiffer

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980724)78:4<371::AID-AJMG13>3.0.CO;2-F

  13. Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18-year-old man

    International Journal of Dermatology

    Volume 50, Issue 4, April 2011, Pages: 450–453, Ivana Binić, Aleksandar Janković and Milanka Ljubenović

    Version of Record online : 18 MAR 2011, DOI: 10.1111/j.1365-4632.2010.04501.x

  14. Clinical and molecular characterization of two patients with palmoplantar keratoderma–congenital alopecia syndrome type 2

    Clinical and Experimental Dermatology

    Volume 41, Issue 6, August 2016, Pages: 632–635, M. Castori, S. Morlino, M. E. Sana, M. Paradisi, G. Tadini, A. Angioni, M. Malacarne, P. Grammatico, M. Iascone and F. Forzano

    Version of Record online : 24 JUN 2016, DOI: 10.1111/ced.12857

  15. Mendelian Disorders of Cornification (MEDOC): The Ichthyoses

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

    Daniel Hohl, Mary Williams, Pages: 121.1–121.70, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch121

  16. What is IFAP syndrome?

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 3, 30 January 2004, Page: 328, Rudolf Happle

    Version of Record online : 16 JUL 2003, DOI: 10.1002/ajmg.a.20353

  17. Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome

    American Journal of Medical Genetics

    Volume 44, Issue 2, 15 September 1992, Pages: 233–236, F. Martino, P. D'Eufemia, M. S. Pergola, R. Finocchiaro, M. Celli, G. Giampà, M. Frontali and O. Giardini

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320440222

  18. Ichthyosis Follicularis: A Case Report and Review of the Literature

    Pediatric Dermatology

    Volume 20, Issue 1, January/February 2003, Pages: 48–51, Abdullah Alfadley, Khalid Al Hawsawi and Khalid Al Aboud

    Version of Record online : 31 JAN 2003, DOI: 10.1046/j.1525-1470.2003.03011.x

  19. Disorders of Keratinization

    Rook's Textbook of Dermatology, Seventh Edition

    M. R. Judge, W. H. I. McLean, C. S. Munro, Pages: 1619–1730, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch34

  20. Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome Due to Mutation of the Gene MBTPS2 in a Large Australian Kindred

    Pediatric Dermatology

    Volume 26, Issue 4, July/August 2009, Pages: 427–431, Andrew Ming, Rudolf Happle, Karl-Heinz Grzeschik and Gayle Fischer

    Version of Record online : 3 AUG 2009, DOI: 10.1111/j.1525-1470.2009.00946.x