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There are 27641 results for: content related to: Novel MBTPS 2 Missense Mutation in the N-Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia 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 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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-#

  8. 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

  9. 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

  10. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin

    Journal of the European Academy of Dermatology and Venereology

    Volume 19, Issue 6, November 2005, Pages: 759–762, S Khandpur, R Bhat and M Ramam

    Version of Record online : 27 AUG 2005, DOI: 10.1111/j.1468-3083.2005.01318.x

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. MBTPS2 mutation causes BRESEK/BRESHECK syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 97–102, Misako Naiki, Seiji Mizuno, Kenichiro Yamada, Yasukazu Yamada, Reiko Kimura, Makoto Oshiro, Nobuhiko Okamoto, Yoshio Makita, Mariko Seishima and Nobuaki Wakamatsu

    Version of Record online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34373

  19. Disorders of Keratinization

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

    Meral J. Arin, Daniel Hohl, Dennis R. Roop, Pages: 1025–1068, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch24

  20. Keratosis follicularis spinulosa decalvans: report of a new pedigree

    British Journal of Dermatology

    Volume 134, Issue 1, January 1996, Pages: 138–142, R. M. HERD and E. C. BENTON

    Version of Record online : 28 JUN 2008, DOI: 10.1046/j.1365-2133.1996.d01-756.x