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There are 14483 results for: content related to: Novel deletion mutation (c.3717del5) in COL 7 A 1 in a patient with recessive dystrophic epidermolysis bullosa

  1. Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for the COL7A1 mutation p.Gly2043Arg in the pregnant mother

    Journal of the European Academy of Dermatology and Venereology

    Volume 30, Issue 9, September 2016, Pages: 1627–1629, J. Shen, J. Zhang, Z. Wang, C. Ni, H. Li, R. Cheng, J. Liang, M. Li and Z. Yao

    Version of Record online : 20 AUG 2015, DOI: 10.1111/jdv.13229

  2. Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype

    The Journal of Dermatology

    Volume 41, Issue 10, October 2014, Pages: 939–940, Nagisa Yoshihara, Hajime Nakano, Daisuke Sawamura and Shigaku Ikeda

    Version of Record online : 16 SEP 2014, DOI: 10.1111/1346-8138.12621

  3. Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa

    Journal of the European Academy of Dermatology and Venereology

    F. Schauer, J. Hoffmann, J. Fischer and C. Has

    Version of Record online : 22 NOV 2017, DOI: 10.1111/jdv.14663

  4. Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa

    The Journal of Dermatology

    Volume 41, Issue 4, April 2014, Pages: 350–351, In Kyung Jeon, Song-Ee Kim and Soo-Chan Kim

    Version of Record online : 18 FEB 2014, DOI: 10.1111/1346-8138.12356

  5. You have free access to this content
    Possible new LNK mutations in myeloproliferative neoplasms

    American Journal of Hematology

    Volume 86, Issue 10, October 2011, Pages: 866–868, Jung-Sook Ha and Dong-Seok Jeon

    Version of Record online : 22 AUG 2011, DOI: 10.1002/ajh.22107

  6. Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation

    Pigment Cell & Melanoma Research

    Volume 30, Issue 5, September 2017, Pages: 501–504, Yasushi Ogawa, Michihiro Kono and Masashi Akiyama

    Version of Record online : 4 JUL 2017, DOI: 10.1111/pcmr.12597

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    Spanish family study on hereditary breast and/or ovarian cancer: Analysis of the BRCA1 gene

    International Journal of Cancer

    Volume 91, Issue 1, 1 January 2001, Pages: 137–140, Miguel de la Hoya, Pedro Pérez-Segura, Nathalie Van Orsouw, Eduardo Díaz-Rubio and Trinidad Caldés

    Version of Record online : 8 DEC 2000, DOI: 10.1002/1097-0215(20010101)91:1<137::AID-IJC1020>3.0.CO;2-R

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    FLG mutations in the East Asian atopic dermatitis patients: genetic and clinical implication

    Experimental Dermatology

    Volume 25, Issue 10, October 2016, Pages: 816–818, Kapsok Li, Won Jong Oh, Kui Young Park, Kyu-Han Kim and Seong Jun Seo

    Version of Record online : 13 JUL 2016, DOI: 10.1111/exd.13063

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    Infrequent occurrence of MPL exon 10 mutations in polycythemia vera and post-polycythemia vera myelofibrosis

    American Journal of Hematology

    Volume 86, Issue 8, August 2011, Pages: 701–702, Animesh Pardanani, Terra L. Lasho, Christy M. Finke and Ayalew Tefferi

    Version of Record online : 14 JUN 2011, DOI: 10.1002/ajh.22058

  10. Bernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA

    Haemophilia

    D. Böckelmann, A. Naz, M. Y. J. Siddiqi, E. Lerner, K. Sandrock-Lang, T. S. Shamsi and B. Zieger

    Version of Record online : 9 NOV 2017, DOI: 10.1111/hae.13365

  11. Epidermolysis bullosa pruriginosa: two novel mutations (A2054V and G2233R) in the COL7A1 gene

    Journal of the European Academy of Dermatology and Venereology

    Volume 30, Issue 1, January 2016, Pages: 175–178, B.-J. Shi, Y. Jiang, T. Gao, S. Xiao, M. Xue, Y. Liu, J. Hao and Q.-C. Diao

    Version of Record online : 3 OCT 2014, DOI: 10.1111/jdv.12683

  12. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 388–391, ND Rendtorff, I Schrijver, M Lodahl, J Rodriguez-Paris, T Johnsen, EC Hansén, LAA Nickelsen, Z Tümer, T Fagerheim, R Wetke and L Tranebjærg

    Version of Record online : 22 JAN 2013, DOI: 10.1111/cge.12074

  13. Spectrum of F8 gene mutations in haemophilia A patients from Slovenia

    Haemophilia

    Volume 18, Issue 6, November 2012, Pages: e420–e423, M. Debeljak, L. Kitanovski, A. Trampuš Bakija and M. Benedik Dolničar

    Version of Record online : 7 SEP 2012, DOI: 10.1111/hae.12003

  14. Molecular characterization of haemophilia B patients in southern Brazil

    Haemophilia

    Volume 23, Issue 5, September 2017, Pages: e457–e461, M. R. Meireles, A. G. Pantoja, A. P. M. Ornaghi, G. F. Vieira, F. M. Salzano and E. Bandinelli

    Version of Record online : 19 JUL 2017, DOI: 10.1111/hae.13277

  15. VWF collagen (types III and VI)-binding defects in a cohort of type 2M VWD patients – a strategy for improvement of a challenging diagnosis

    Haemophilia

    Volume 23, Issue 2, March 2017, Pages: e143–e147, T. Fidalgo, A. Oliveira, C. Silva Pinto, P. Martinho, G. Ferreira, R. Salvado, T. Sevivas, C. Catarino and M. L. Ribeiro

    Version of Record online : 12 JAN 2017, DOI: 10.1111/hae.13156

  16. Association of TERT promoter mutations with telomerase expression in melanoma

    Pigment Cell & Melanoma Research

    Volume 29, Issue 3, May 2016, Pages: 391–393, Seungjae Lee, Patricia Opresko, Alberto Pappo, John M. Kirkwood and Armita Bahrami

    Version of Record online : 21 APR 2016, DOI: 10.1111/pcmr.12471

  17. Comparative analysis of the GNAQ,GNA11,SF3B1, and EIF1AX driver mutations in melanoma and across the cancer spectrum

    Pigment Cell & Melanoma Research

    Volume 29, Issue 4, July 2016, Pages: 470–473, Douglas B. Johnson, Jason Roszik, Alexander N. Shoushtari, Zeynep Eroglu, Justin M. Balko, Catherine Higham, Igor Puzanov, Sapna P. Patel, Jeffrey A. Sosman and Scott E. Woodman

    Version of Record online : 20 JUN 2016, DOI: 10.1111/pcmr.12482

  18. Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

    British Journal of Dermatology

    Volume 174, Issue 5, May 2016, Pages: 1152–1156, N.A. Schlipf, H. Traupe, Y. Gilaberte, W.K. Peitsch, I. Hausser, V. Oji, A. Schmieder, S.W. Schneider, P. Demmer, B. Rösler and J. Fischer

    Version of Record online : 18 FEB 2016, DOI: 10.1111/bjd.14328

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    Temperature-sensitive splicing of mitfa by an intron mutation in zebrafish

    Pigment Cell & Melanoma Research

    Volume 28, Issue 2, March 2015, Pages: 229–232, Zhiqiang Zeng, Stephen L. Johnson, James A. Lister and E. Elizabeth Patton

    Version of Record online : 29 DEC 2014, DOI: 10.1111/pcmr.12336

  20. You have free access to this content
    Germline transmission of LNKE208Q variant in a family with myeloproliferative neoplasms

    American Journal of Hematology

    Volume 91, Issue 9, September 2016, Page: E356, Giuseppe Gaetano Loscocco, Carmela Mannarelli, Annalisa Pacilli, Tiziana Fanelli, Giada Rotunno, Francesca Gesullo, Giuditta Corbizi-Fattori, Alessandro Maria Vannucchi and Paola Guglielmelli

    Version of Record online : 4 JUL 2016, DOI: 10.1002/ajh.24437