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There are 23653 results for: content related to: Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and B

  1. You have free access to this content
    Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann–Pick disease

    American Journal of Medical Genetics Part A

    Volume 170, Issue 10, October 2016, Pages: 2719–2730, Prajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani, Savita Wangnekar, Jamal Mohammed Nurul Jain, Ishwar C. Verma, Madhulika Kabra, Ratna Dua Puri, Sumita Danda, Neerja Gupta, Katta M. Girisha, Vaikom H. Sankar, Siddaramappa J. Patil, Akella Radha Ramadevi, Meenakshi Bhat, Kalpana Gowrishankar, Kausik Mandal, Shagun Aggarwal, Parag Mohan Tamhankar, Preetha Tilak, Shubha R. Phadke and Ashwin Dalal

    Version of Record online : 24 JUN 2016, DOI: 10.1002/ajmg.a.37817

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    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12191

  3. You have full text access to this Open Access content
    Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A

    STEM CELLS Translational Medicine

    Volume 5, Issue 12, December 2016, Pages: 1644–1655, Yan Long, Miao Xu, Rong Li, Sheng Dai, Jeanette Beers, Guokai Chen, Ferri Soheilian, Ulrich Baxa, Mengqiao Wang, Juan J. Marugan, Silvia Muro, Zhiyuan Li, Roscoe Brady and Wei Zheng

    Version of Record online : 2 AUG 2016, DOI: 10.5966/sctm.2015-0373

  4. Preimplantation genetic diagnosis for Niemann-Pick disease type B

    Prenatal Diagnosis

    Volume 24, Issue 12, 15 December 2004, Pages: 943–948, Ali Hellani, Edward H. Schuchman, Ali Al-Odaib, Aida Al Aqueel, Kamal Jaroudi, Pinar Ozand and Serdar Coskun

    Version of Record online : 21 DEC 2004, DOI: 10.1002/pd.1050

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    Improvement in Lipid and Protein Trafficking in Niemann-Pick C1 Cells by Correction of a Secondary Enzyme Defect

    Traffic

    Volume 11, Issue 5, May 2010, Pages: 601–615, Cecilia Devlin, Nina H. Pipalia, Xianghai Liao, Edward H. Schuchman, Frederick R. Maxfield and Ira Tabas

    Version of Record online : 22 FEB 2010, DOI: 10.1111/j.1600-0854.2010.01046.x

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    Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

    Human Mutation

    Volume 24, Issue 1, July 2004, Page: 105, V. Ricci, M. Stroppiano, F. Corsolini, M. Di Rocco, G. Parenti, S. Regis, S. Grossi, R. Biancheri, R. Mazzotti and M. Filocamo

    Version of Record online : 4 JUN 2004, DOI: 10.1002/humu.9258

  7. Niemann–Pick type C disease: a novel NPC1 mutation segregating in a Greek island

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 543–547, I. Mavridou, M. Cozar, S. Douzgou, A. Xaidara, D. Lianou, M.T. Vanier, E. Dimitriou, D. Grinberg, L. Vilageliu and H. Michelakakis

    Version of Record online : 12 JUN 2013, DOI: 10.1111/cge.12200

  8. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients

    Human Mutation

    Volume 30, Issue 7, July 2009, Pages: 1117–1122, Laura Rodríguez-Pascau, Laura Gort, Edward H. Schuchman, Lluïsa Vilageliu, Daniel Grinberg and Amparo Chabás

    Version of Record online : 18 MAR 2009, DOI: 10.1002/humu.21018

  9. Genetic testing for RAD51C mutations: in the clinic and community

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 303–312, V. Sopik, M.R. Akbari and S.A. Narod

    Version of Record online : 7 JAN 2015, DOI: 10.1111/cge.12548

  10. Niemann–Pick disease type C

    Clinical Genetics

    Volume 64, Issue 4, October 2003, Pages: 269–281, MT Vanier and G Millat

    Version of Record online : 15 SEP 2003, DOI: 10.1034/j.1399-0004.2003.00147.x

  11. Cholesterol esterification and Niemann–Pick disease: An approach to identifying the defect in fibroblasts

    Journal of Neuroscience Research

    Volume 27, Issue 4, December 1990, Pages: 505–511, L. M. Bowler, R. Shankaran, I. Das and Dr. J. W. Callahan

    Version of Record online : 11 OCT 2004, DOI: 10.1002/jnr.490270411

  12. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Version of Record online : 3 OCT 2013, DOI: 10.1111/cge.12269

  13. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 552–559, G Storkanova, H Vlaskova, N Chuzhanova, J Zeman, V Stranecky, F Majer, K Peskova, O Luksan, M Jirsa, M Hrebicek and L Dvorakova

    Version of Record online : 7 FEB 2013, DOI: 10.1111/cge.12085

  14. NIEMANN-PICK DISEASE AND GIANT CELL TRANSFORMATION OF THE LIVER

    Acta Paediatrica

    Volume 60, Issue 3, May 1971, Pages: 285–294, A. ASHKENAZI, R. YAROM, A. GUTMAN, A. ABRAHAMOV and A. RUSSELL

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1971.tb06658.x

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    Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon

    Human Mutation

    Volume 24, Issue 2, August 2004, Pages: 186–187, M.G. Pittis, V. Ricci, V. I. Guerci, C. Marçais, G. Ciana, A. Dardis, F. Gerin, M. Stroppiano, M.T. Vanier, M. Filocamo and B. Bembi

    Version of Record online : 30 JUN 2004, DOI: 10.1002/humu.9263

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    Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice

    Journal of Neurochemistry

    Volume 116, Issue 5, March 2011, Pages: 779–788, Maria Dolores Ledesma, Alessandro Prinetti, Sandro Sonnino and Edward H. Schuchman

    Version of Record online : 7 JAN 2011, DOI: 10.1111/j.1471-4159.2010.07034.x

  17. Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 153B, Issue 1, January 2010, Pages: 132–140, Nicole M. Yanjanin, Jorge I. Vélez, Andrea Gropman, Kelly King, Simona E. Bianconi, Sandra K. Conley, Carmen C. Brewer, Beth Solomon, William J. Pavan, Mauricio Arcos-Burgos, Marc C. Patterson and Forbes D. Porter

    Version of Record online : 4 MAY 2009, DOI: 10.1002/ajmg.b.30969

  18. X-chromosome inactivation in female patients with Fabry disease

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 44–54, L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Version of Record online : 22 JUN 2015, DOI: 10.1111/cge.12613

  19. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 550–557, A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Version of Record online : 17 FEB 2015, DOI: 10.1111/cge.12550

  20. 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