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There are 27055 results for: content related to: Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

  1. Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 574–583, M.A. Alcántara-Ortigoza, B. García-de Teresa, A. González-del Angel, J. Berumen, M. Guardado-Estrada, L. Fernández-Hernández, J.I. Navarrete-Martínez, M. Maza-Morales and R. Rius-Domínguez

    Version of Record online : 9 FEB 2016, DOI: 10.1111/cge.12738

  2. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

    Clinical Genetics

    Volume 81, Issue 2, February 2012, Pages: 185–190, YB Sohn, C-S Ki, C-H Kim, A-R Ko, Y-J Yook, S-J Lee, SJ Kim, SW Park, S Yeau, E-K Kwon, SJ Han, EW Choi, S-Y Lee, J-W Kim and D-K Jin

    Version of Record online : 24 FEB 2011, DOI: 10.1111/j.1399-0004.2011.01641.x

    Corrected by:

    Corrigendum

    Vol. 82, Issue 3, 300, Version of Record online: 12 AUG 2012

  3. Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 7, 1 April 2007, Pages: 687–693, Shozo Honda, Shin Hayashi, Mitsuhiro Kato, Yo Niida, Kiyoshi Hayasaka, Torayuki Okuyama, Issei Imoto, Shuki Mizutani and Johji Inazawa

    Version of Record online : 7 MAR 2007, DOI: 10.1002/ajmg.a.31638

  4. Mucopolysaccharidosis type II: an update on mutation spectrum

    Acta Paediatrica

    Volume 96, Issue s455, April 2007, Pages: 71–77, Roseline Froissart, Isabel Moreira Da Silva and Irène Maire

    Version of Record online : 23 MAR 2007, DOI: 10.1111/j.1651-2227.2007.00213.x

  5. Characterization of iduronate-2-sulfatase gene–pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method

    Human Mutation

    Volume 25, Issue 5, May 2005, Pages: 491–497, Susanna Lualdi, Stefano Regis, Maja Di Rocco, Fabio Corsolini, Marina Stroppiano, Daniela Antuzzi and Mirella Filocamo

    Version of Record online : 14 APR 2005, DOI: 10.1002/humu.20165

  6. Further cases of “neighbor” mutations in mucopolysaccharidosis type II

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 15, 1 August 2006, Pages: 1684–1686, Ida V. D. Schwartz, Luciane C. Lima, Karen Tylee, Ruy P. Oliveira Sobrinho, Denise Y. J. Norato, Andréa R. Duarte, Guy Besley, Maira G. Burin, Ursula Matte, Roberto Giugliani and Sandra Leistner-Segal

    Version of Record online : 12 JUN 2006, DOI: 10.1002/ajmg.a.31317

  7. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 12, 15 June 2007, Pages: 1358–1365, Frank J. Probst, Elizabeth R. Roeder, Victoria B. Enciso, Zhishuo Ou, M. Lance Cooper, Patricia Eng, Jiangzhen Li, Yanghong Gu, Robert F. Stratton, A. Craig Chinault, Chad A. Shaw, V. Reid Sutton, Sau Wai Cheung and David L. Nelson

    Version of Record online : 15 MAY 2007, DOI: 10.1002/ajmg.a.31781

  8. Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2627–2632, Fortunato Lonardo, Paola Di Natale, Susanna Lualdi, Fabio Acquaviva, Cristina Cuoco, Francesca Scarano, Marianna Maioli, Luigi Michele Pavone, Grazia Di Gregorio, Mirella Filocamo and Gioacchino Scarano

    Version of Record online : 8 JUL 2014, DOI: 10.1002/ajmg.a.36667

  9. IDS gene-pseudogene exchange responsible for an intragenic deletion in a hunter patient

    Human Mutation

    Volume 8, Issue 1, 1996, Pages: 44–50, Anne-Marie Birot, Olivier Bouton, Roseline Froissart, Irène Maire and Dominique Bozon

    Version of Record online : 8 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1996)8:1<44::AID-HUMU6>3.0.CO;2-P

  10. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

    Clinical Genetics

    A. Uttarilli, P. Ranganath, D. Matta, J. Md Nurul Jain, K. Prasad, A.S. Babu, K.M. Girisha, I.C. Verma, S.R. Phadke, K. Mandal, R.D. Puri, S. Aggarwal, S. Danda, V.H. Sankar, S. Kapoor, M. Bhat, K. Gowrishankar, A.Q. Hasan, M. Nair, S. Nampoothiri and A. Dalal

    Version of Record online : 26 MAY 2016, DOI: 10.1111/cge.12795

  11. Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene

    Human Mutation

    Volume 15, Issue 4, April 2000, Pages: 324–331, K. Lagerstedt, B.-M. Carlberg, R. Karimi-Nejad, W.J. Kleijer and M.-L. Bondeson

    Version of Record online : 22 MAR 2000, DOI: 10.1002/(SICI)1098-1004(200004)15:4<324::AID-HUMU4>3.0.CO;2-5

  12. Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line

    Prenatal Diagnosis

    Volume 31, Issue 9, September 2011, Pages: 853–860, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Baruch Brooks, Irit Varshaver, Mical Avitzour, Ehud J. Margalioth, Ephrat Levy-Lahad, Deborah Elstein, Silvina Epsztejn-Litman and Rachel Eiges

    Version of Record online : 27 JUN 2011, DOI: 10.1002/pd.2786

  13. Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions

    Human Mutation

    Volume 14, Issue 6, December 1999, Pages: 471–476, Stanislav Karsten, Elena Voskoboeva, Xcenia Krasnopolskaja and Marie-Louise Bondeson

    Version of Record online : 22 NOV 1999, DOI: 10.1002/(SICI)1098-1004(199912)14:6<471::AID-HUMU5>3.0.CO;2-5

  14. You have free access to this content
    Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome

    Human Mutation

    Volume 31, Issue 4, April 2010, Pages: E1261–E1285, Susanna Lualdi, Barbara Tappino, Marco Di Duca, Andrea Dardis, Christopher J. Anderson, Roberto Biassoni, Peter W. Thompson, Fabio Corsolini, Maja Di Rocco, Bruno Bembi, Stefano Regis, David N. Cooper and Mirella Filocamo

    Version of Record online : 26 JAN 2010, DOI: 10.1002/humu.21208

  15. You have free access to this content
    Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations

    Human Mutation

    Volume 14, Issue 1, 1999, Page: 87, Catherine Hartog, Alan Fryer and Meena Upadhyaya

    Version of Record online : 1 JUL 1999, DOI: 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU14>3.0.CO;2-N

  16. General implications for CpG hot spot mutations: Methylation patterns of the human iduronate-2-sulfatase gene locus

    Human Mutation

    Volume 23, Issue 6, June 2004, Pages: 590–598, Shunji Tomatsu, Koji O. Orii, Y. Bi, Monica A. Gutierrez, Tatsuo Nishioka, Seiji Yamaguchi, Naomi Kondo, Tadao Orii, Akihiko Noguchi and William S. Sly

    Version of Record online : 30 APR 2004, DOI: 10.1002/humu.20046

  17. Mucopolysaccharidosis type II – genotype/phenotype aspects

    Acta Paediatrica

    Volume 91, Issue s439, November 2002, Pages: 82–87, R Froissart, I Moreira da Silva, N Guffon, D Bozon and I Maire

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2002.tb03116.x

  18. Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 1, 1 July 2003, Pages: 84–87, Verena Ricci, Mirella Filocamo, Stefano Regis, Fabio Corsolini, Marina Stroppiano, Marco Di Duca and Rosanna Gatti

    Version of Record online : 8 JAN 2003, DOI: 10.1002/ajmg.a.10215

  19. Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene

    Human Mutation

    Volume 2, Issue 6, 1993, Pages: 435–442, J. J. Hopwood, S. Bunge, C. P. Morris, P. J. Wilson, C. Steglich, M. Beck, E. Schwinger and A. Gal

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380020603

  20. Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

    Human Mutation

    Volume 6, Issue 2, 1995, Pages: 136–143, Kazuko Sukegawa, Shunji Tomatsu, Toshiyuki Fukao, Hideki Iwata, Xiang-Qian Song, Yukiji Yamada, Seiji Fukuda, Kouji Isogai and Tadao Orii

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380060206