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There are 23708 results for: content related to: Homozygous SCA 2 mutations changes phenotype and hastens progression

  1. You have free access to this content
    Hematological characteristics and effective screening for compound heterozygosity for Hb constant spring and deletional α+-thalassemia

    American Journal of Hematology

    Volume 86, Issue 7, July 2011, Pages: 615–617, Noppacharn Uaprasert, Ponlapat Rojnuckarin, Rung Settapiboon, Supaporn Amornsiriwat and Pranee Sutcharitchan

    Version of Record online : 20 APR 2011, DOI: 10.1002/ajh.22033

  2. Complex phenotypes in an Indian family with homozygous SCA2 mutations

    Annals of Neurology

    Volume 55, Issue 1, January 2004, Pages: 130–133, Mona Ragothaman, Nagaraja Sarangmath, Shashi Chaudhary, Vishwamohini Khare, Uma Mittal, Sangeeta Sharma, Sreelatha Komatireddy, Subhabrata Chakrabarti, Mitali Mukerji, Ramesh C. Juyal, B. K. Thelma and Uday B. Muthane

    Version of Record online : 30 DEC 2003, DOI: 10.1002/ana.10815

  3. Golga5 is dispensable for mouse embryonic development and postnatal survival


    Volume 55, Issue 7, July 2017, Lynessa J. McGee, Alex L. Jiang and Yu Lan

    Version of Record online : 2 JUN 2017, DOI: 10.1002/dvg.23039

  4. Childhood-onset ataxia: Testing for large CAG-repeats in SCA2 and SCA7

    American Journal of Medical Genetics

    Volume 110, Issue 4, 15 July 2002, Pages: 338–345, Rong Mao, Arthur S. Aylsworth, Nicholas Potter, William G. Wilson, Galen Breningstall, Myra J. Wick, Dusica Babovic-Vuksanovic, Martha Nance, Marc C. Patterson, Christopher M. Gomez and Karen Snow

    Version of Record online : 9 MAY 2002, DOI: 10.1002/ajmg.10467

  5. Clinical significance of prothrombin G20210A mutation in homozygous patients

    American Journal of Hematology

    Volume 92, Issue 10, October 2017, Pages: E618–E620, Amit Shemesh, Ron Hoffman, Yona Nadir, Anat Keren-Politansky, Manuel Monreal, Benjamin Brenner and Inna Tzoran

    Version of Record online : 17 AUG 2017, DOI: 10.1002/ajh.24859

  6. Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc

    American Journal of Hematology

    Volume 92, Issue 6, June 2017, Pages: E108–E110, Alicia Rivera, David H. Vandorpe, Boris E. Shmukler, Denis R. Gallagher, Christopher C. Fikry, Frans A. Kuypers, Carlo Brugnara, L. Michael Snyder and Seth L. Alper

    Version of Record online : 29 APR 2017, DOI: 10.1002/ajh.24716

  7. ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis

    Annals of Neurology

    Volume 80, Issue 4, October 2016, Pages: 600–615, Pan P. Li, Xin Sun, Guangbin Xia, Nicolas Arbez, Sharan Paul, Shanshan Zhu, H. Benjamin Peng, Christopher A. Ross, Arnulf H. Koeppen, Russell L. Margolis, Stefan M. Pulst, Tetsuo Ashizawa and Dobrila D. Rudnicki

    Version of Record online : 28 SEP 2016, DOI: 10.1002/ana.24761

  8. Discordant von Willebrand factor (VWF) activity in patients with VWF p.Gly1324Ser confirmed in vitro


    M. Bowman, E. Rimmer, D. S. Houston, S. J. Israels and P. James

    Version of Record online : 17 JAN 2018, DOI: 10.1111/hae.13401

  9. Homozygosity for the NOD2 p.Leu1007fsX1008 variant is the main genetic predictor for fibrostenotic Crohn's disease

    Inflammatory Bowel Diseases

    Volume 18, Issue 2, February 2012, Pages: 393–394, Stephan Brand

    Version of Record online : 29 OCT 2011, DOI: 10.1002/ibd.21914

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    Two cases of homozygous α0-thalassemia diagnosed prenatally in pregnancies at risk for β-thalassemia in China

    Ultrasound in Obstetrics & Gynecology

    Volume 29, Issue 4, April 2007, Pages: 474–475, C. Liao, X.-M. Xie and D.-Z. Li

    Version of Record online : 8 FEB 2007, DOI: 10.1002/uog.3929

  11. Analysis of the MTHFR (methylenetetrahydrofolate reductase) 677 C>T and 1298 A>C polymorphisms in BCR–ABL-negative myeloproliferative neoplasms

    International Journal of Laboratory Hematology

    Volume 35, Issue 1, February 2013, Pages: e9–e12, A. P. Trifa, A. Cucuianu, R. A. Popp, R. M. Costache, C. A. Coadă, A. D. Sarca, L. G. Urian, D. Dima, L. Petrov, M. F. Farcasˏ, M. S. Militaru and I. V. Pop

    Version of Record online : 29 OCT 2012, DOI: 10.1111/ijlh.12017

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    Maternal and zygotic requirements for src64 during Drosophila cellularization


    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

  13. Severe FX deficiency caused by a homozygous double deletion involving F10 and PROZ genes


    Volume 19, Issue 6, November 2013, Pages: e361–e364, A. D. Laurie and J.-A. Bell

    Version of Record online : 6 AUG 2013, DOI: 10.1111/hae.12236

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    Identification and characterization of the mammalian association and actin-nucleating domains in the Rickettsia conorii autotransporter protein, Sca2

    Cellular Microbiology

    Volume 14, Issue 9, September 2012, Pages: 1485–1495, Marissa M. Cardwell and Juan J. Martinez

    Version of Record online : 5 JUN 2012, DOI: 10.1111/j.1462-5822.2012.01815.x

  15. Red blood cell microparticles in hemoglobin E disorders

    International Journal of Laboratory Hematology

    Volume 37, Issue 2, April 2015, Pages: e52–e55, W. Chaichote, N. Sae-Ung, G. Fucharoen and S. Fucharoen

    Version of Record online : 22 AUG 2014, DOI: 10.1111/ijlh.12287

  16. Stem cell antigen 2: a new gene involved in the self-renewal of erythroid progenitors

    Cell Proliferation

    Volume 41, Issue 5, October 2008, Pages: 726–738, C. Bresson-Mazet, O. Gandrillon and S. Gonin-Giraud

    Version of Record online : 10 SEP 2008, DOI: 10.1111/j.1365-2184.2008.00554.x

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    Poster Presentations

    Movement Disorders

    Volume 27, Issue S1, June 2012, Pages: S1–S523,

    Version of Record online : 19 JUN 2012, DOI: 10.1002/mds.25051

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    Recommendations for prophylaxis of pregnancy-related venous thromboembolism in carriers of inherited thrombophilia. Comment on the 2012 ACCP guidelines

    Journal of Thrombosis and Haemostasis

    Volume 11, Issue 9, September 2013, Pages: 1779–1781, V. De Stefano, E. Grandone and I. Martinelli

    Version of Record online : 12 SEP 2013, DOI: 10.1111/jth.12330

  19. Analysis of HFE mutations and non-HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the basque country

    International Journal of Laboratory Hematology

    Volume 38, Issue 1, February 2016, Pages: e5–e7, A. Castiella, E. Zapata, M. D. De Juan, L. Zubiaurre, A. Iribarren, P. Otazua, J. Fernandez, L. Aragón, O. Zuriarrain and A. Gorostidi

    Version of Record online : 7 NOV 2015, DOI: 10.1111/ijlh.12444

  20. Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene – a case report


    Volume 19, Issue 5, September 2013, Pages: e310–e313, S. Rost, V. Aumann, I. Nanda, J. Oldenburg and C. R. Müller

    Version of Record online : 28 MAY 2013, DOI: 10.1111/hae.12190