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There are 35198 results for: content related to: Identification of a novel splicing mutation of ECM 1 in a rare lipoid proteinosis family

  1. Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa

    The Journal of Dermatology

    Volume 41, Issue 11, November 2014, Pages: 1018–1019, Tomoko Kitazawa, Tamihiro Kawakami, Maya Matsuoka, Satoko Kimura, Yoshinao Soma and Hajime Nakano

    Version of Record online : 25 OCT 2014, DOI: 10.1111/1346-8138.12648

  2. No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay

    Genes, Chromosomes and Cancer

    Volume 53, Issue 9, September 2014, Pages: 798–801, Lucie Grodecká, Michal Kramárek, Pavla Lockerová, Tatiana Kováčová, Barbora Ravčuková, Radmila Richterová, Kateřina Kyselová, Eva Augste and Tomáš Freiberger

    Version of Record online : 12 MAY 2014, DOI: 10.1002/gcc.22186

  3. You have full text access to this OnlineOpen article
    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

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    Common Δ2 and Δ8 RB1 variants in human breast and prostate tissues

    International Journal of Cancer

    Volume 80, Issue 4, 9 February 1999, Pages: 632–633, Alain Latil, Sandrine Pesche, Antoine Valeri, Olivier Cussenot, Georges Fournier and Rosette Lidereau

    Version of Record online : 8 NOV 1999, DOI: 10.1002/(SICI)1097-0215(19990209)80:4<632::AID-IJC25>3.0.CO;2-2

  5. Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 517–519, S. Moosa, B. H.-Y. Chung, J. Y.-L. Tung, J. Altmüller, H. Thiele, P. Nürnberg, C. Netzer, G. Nishimura and B. Wollnik

    Version of Record online : 14 OCT 2015, DOI: 10.1111/cge.12678

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    Maternal and zygotic requirements for src64 during Drosophila cellularization

    genesis

    Volume 49, Issue 12, December 2011, Pages: 912–918, Taylor C. Strong and Jeffrey H. Thomas

    Version of Record online : 5 AUG 2011, DOI: 10.1002/dvg.20783

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    Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: Description of seven new G6PD mutants

    American Journal of Hematology

    Volume 87, Issue 2, February 2012, Pages: 208–210, Kamran Moradkhani, Chadia Mekki, Michel Bahuau, Valerie Li Thiao Te, Muriel Holder, Serge Pissard, Claude Préhu, Christian Rose, Henri Wajcman and Frédéric Galactéros

    Version of Record online : 3 DEC 2011, DOI: 10.1002/ajh.22218

  8. A conditional allele of Rspo3 reveals redundant function of R-spondins during mouse limb development

    genesis

    Volume 50, Issue 10, October 2012, Pages: 741–749, Stanley Neufeld, Jessica M. Rosin, Anshula Ambasta, Kristen Hui, Venessa Shaneman, Ray Crowder, Lori Vickerman and John Cobb

    Version of Record online : 19 JUN 2012, DOI: 10.1002/dvg.22040

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    Next generation RNA-sequencing in prognostic subsets of chronic lymphocytic leukemia

    American Journal of Hematology

    Volume 87, Issue 7, July 2012, Pages: 737–740, Larry Mansouri, Rebeqa Gunnarsson, Lesley-Ann Sutton, Adam Ameur, Sean D Hooper, Markus Mayrhofer, Gunnar Juliusson, Anders Isaksson, Ulf Gyllensten and Richard Rosenquist

    Version of Record online : 3 JUN 2012, DOI: 10.1002/ajh.23227

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    Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma

    Experimental Dermatology

    Volume 24, Issue 2, February 2015, Pages: 152–155, Santasree Banerjee, Yunqing Ren, Tianying Wei, Zhongwei Zhou, Ping Yu, Fenghui Guan, Xiaonming Wei, Sheng Ye, Shaofeng Yan, Min Zheng, Michael L Raff and Ming Qi

    Version of Record online : 27 JAN 2015, DOI: 10.1111/exd.12610

  11. Prenatal diagnostic conundrum involving a novel ATP7A duplication

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 97–98, C Schoonveld, A Donsante, D del Gaudio, D Waggoner, S Das and SG Kaler

    Version of Record online : 14 NOV 2012, DOI: 10.1111/cge.12041

  12. Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 598–599, N Dharajiya, KM Chisholm, L Dietz, C Sue Richards, M Kharrazi and I Schrijver

    Version of Record online : 28 SEP 2012, DOI: 10.1111/cge.12012

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    cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 505–506, MW Wong-Brown, ML McPhillips, M Hipwell, G Pecenpetelovska, S Dooley, C Meldrum and RJ Scott

    Version of Record online : 20 DEC 2012, DOI: 10.1111/cge.12052

  14. The ATP2C1 gene in Hailey–Hailey disease patients: one novel deletion and one novel splicing mutation

    Journal of the European Academy of Dermatology and Venereology

    Volume 29, Issue 12, December 2015, Pages: 2495–2497, B.-J. Shi, S. Xiao, Z. Zhang, J. Lü, M. Xue, Y. Jiang, Y. Liu, J. Hao and Q.-C. Diao

    Version of Record online : 1 JUL 2014, DOI: 10.1111/jdv.12603

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    The Relationship Between the Three-Dimensional (3D) Structures of BF Molecules and MHC-Related Marek's Disease Resistance in Chickens

    Scandinavian Journal of Immunology

    Volume 81, Issue 5, May 2015, Pages: 325–327, Y. - C. Jin, P. Wei, S. Cui and L. Huang

    Version of Record online : 21 APR 2015, DOI: 10.1111/sji.12278

  16. Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 498–499, M. Kehrer, A. Beckmann, J. Wyduba, U. Finckh, A. Dufke, U. Gaiser and A. Tzschach

    Version of Record online : 13 JUN 2013, DOI: 10.1111/cge.12199

  17. FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 746–748, C. Apra, C. Collet, E. Arnaud and F. Di Rocco

    Version of Record online : 3 FEB 2016, DOI: 10.1111/cge.12705

  18. Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort

    Movement Disorders

    Volume 28, Issue 12, October 2013, Pages: 1752–1753, Jeremy R.B. Newman, Alexander C. Lehn, Richard S. Boyle, Peter A. Silburn and George D. Mellick

    Version of Record online : 6 MAY 2013, DOI: 10.1002/mds.25479

  19. Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic–pathological correlation

    Neuropathology and Applied Neurobiology

    Volume 41, Issue 6, October 2015, Pages: 832–836, Paola Angelini, Jane Chalker, Nicola Austin, Sandra Hing, Simon M.L. Paine, Kshitij Mankad, Darren Hargrave and Thomas S. Jacques

    Version of Record online : 14 JUL 2015, DOI: 10.1111/nan.12257

  20. Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa

    The Journal of Dermatology

    Volume 40, Issue 1, January 2013, Pages: 59–61, Sang Hee Lee, Song-Ee Kim, Eun Bee Noh, Se-Woong Oh and Soo-Chan Kim

    Version of Record online : 14 SEP 2012, DOI: 10.1111/j.1346-8138.2012.01666.x