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There are 5680 results for: content related to: Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro

  1. You have free access to this content
    Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations

    Annals of Human Genetics

    Volume 71, Issue 2, March 2007, Pages: 185–193, A. Daniele, G. Cardillo, C. Pennino, M. T. Carbone, D. Scognamiglio, A. Correra, A. Pignero, G. Castaldo and F. Salvatore

    Article first published online : 10 NOV 2006, DOI: 10.1111/j.1469-1809.2006.00328.x

  2. Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH4 responsiveness and evidence of a founder effect

    Clinical Genetics

    M. Vela-Amieva, M. Abreu-González, A. González-del Angel, I. Ibarra-González, C. Fernández-Lainez, R. Barrientos-Ríos, S. Monroy-Santoyo, S. Guillén-López and M.A. Alcántara-Ortigoza

    Article first published online : 26 JUL 2014, DOI: 10.1111/cge.12444

  3. You have free access to this content
    Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

    FEBS Journal

    Volume 276, Issue 7, April 2009, Pages: 2048–2059, Aurora Daniele, Iris Scala, Giuseppe Cardillo, Cinzia Pennino, Carla Ungaro, Michelina Sibilio, Giancarlo Parenti, Luciana Esposito, Adriana Zagari, Generoso Andria and Francesco Salvatore

    Article first published online : 6 MAR 2009, DOI: 10.1111/j.1742-4658.2009.06940.x

  4. Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 927–936, Caroline Heintz, Richard G.H. Cotton and Nenad Blau

    Article first published online : 1 MAY 2013, DOI: 10.1002/humu.22320

  5. Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria

    Acta Paediatrica

    Volume 94, Issue 9, September 2005, Pages: 1218–1222, H. Serap Kalkanoğlu, Kirsten K. Ahring, Durdu Sertkaya, Lisbeth Birk Møller, Anne Romstad, Ingrid Mikkelsen, Per Guldberg, Hans C. Lou and Flemming Güttler

    Article first published online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2005.tb02078.x

  6. You have free access to this content
    PKU in Minas Gerais State, Brazil: Mutation Analysis

    Annals of Human Genetics

    Volume 72, Issue 6, November 2008, Pages: 774–779, L. L. Santos, M. Castro-Magalhães, C.G. Fonseca, A. L. P. Starling, J. N. Januário, M. J. B. Aguiar and M. R. S. Carvalho

    Article first published online : 16 SEP 2008, DOI: 10.1111/j.1469-1809.2008.00476.x

  7. Splice, Insertion-Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India

    Journal of Cellular Biochemistry

    Volume 115, Issue 3, March 2014, Pages: 566–574, Murali D. Bashyam, Ajay K. Chaudhary, Manjari Kiran, Hampapathalu A. Nagarajaram, Radha Rama Devi, Prajnya Ranganath, Ashwin Dalal, Leena Bashyam, Neerja Gupta, Madhulika Kabra, Mamta Muranjan, Ratna D. Puri, Ishwar C. Verma, Sheela Nampoothiri and Jayarama S. Kadandale

    Article first published online : 19 JAN 2014, DOI: 10.1002/jcb.24692

  8. Mutational spectrum of Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 263–284, Hans R. Waterham and Raoul C.M. Hennekam

    Article first published online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31346

  9. You have free access to this content
    A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population

    Annals of Human Genetics

    Volume 72, Issue 3, May 2008, Pages: 305–309, D. Bercovich, A. Elimelech, T. Yardeni, S. Korem, J. Zlotogora, N. Gal, N. Goldstein, B. Vilensky, R. Segev, S. Avraham, R. Loewenthal, G. Schwartz and Y. Anikster

    Article first published online : 19 FEB 2008, DOI: 10.1111/j.1469-1809.2007.00425.x

  10. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 8–21, Noralane M. Lindor, Lucia Guidugli, Xianshu Wang, Maxime P. Vallée, Alvaro N. A. Monteiro, Sean Tavtigian, David E. Goldgar and Fergus J. Couch

    Article first published online : 3 NOV 2011, DOI: 10.1002/humu.21627

    Corrected by:

    Errata: A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Vol. 33, Issue 5, 900–903, Article first published online: 13 APR 2012

  11. Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging

    Magnetic Resonance in Medicine

    Volume 58, Issue 6, December 2007, Pages: 1145–1156, Peter Vermathen, Laure Robert-Tissot, Joachim Pietz, Thomas Lutz, Chris Boesch and Roland Kreis

    Article first published online : 28 NOV 2007, DOI: 10.1002/mrm.21422

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    Epilepsy in Phenylketonuria: A Complex Dependence on Serum Phenylalanine Levels

    Epilepsia

    Volume 48, Issue 6, June 2007, Pages: 1143–1150, Anatoly E. Martynyuk, Deniz A. Ucar, Dawn D. Yang, Wendy M. Norman, Paul R. Carney, Donn M. Dennis and Philip J. Laipis

    Article first published online : 1 MAY 2007, DOI: 10.1111/j.1528-1167.2007.01115.x

  13. You have free access to this content
    Relationship between myelin production and dopamine synthesis in the PKU mouse brain

    Journal of Neurochemistry

    Volume 86, Issue 3, August 2003, Pages: 615–626, Bernadin Joseph and Charissa A. Dyer

    Article first published online : 3 JUL 2003, DOI: 10.1046/j.1471-4159.2003.01887.x

  14. You have full text access to this OnlineOpen article
    Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations

    Molecular Genetics & Genomic Medicine

    Volume 1, Issue 4, November 2013, Pages: 194–205, Melanie G. Pepin, Ulrike Schwarze, Virendra Singh, Marc Romana, Altheia Jones-LeCointe and Peter H. Byers

    Article first published online : 26 JUN 2013, DOI: 10.1002/mgg3.21

  15. Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2416–2421, Giorgia Esposito, Tanya L. Butler, Gillian M. Blue, Andrew D. Cole, Gary F. Sholler, Edwin P. Kirk, Paul Grossfeld, Benjamin M. Perryman, Richard P. Harvey and David S. Winlaw

    Article first published online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34187

  16. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 142–148, E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

    Article first published online : 17 SEP 2013, DOI: 10.1111/cge.12241

  17. Late-Treated Phenylketonuria and Partial Reversibility of Intellectual Impairment

    Child Development

    Volume 81, Issue 1, January/February 2010, Pages: 200–211, Scott D. Grosse

    Article first published online : 4 FEB 2010, DOI: 10.1111/j.1467-8624.2009.01389.x

  18. Generation n + 1: Projected numbers of babies born to women with PKU compared to babies with PKU in the United States in 2009

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1118–1123, Robert Resta

    Article first published online : 11 APR 2012, DOI: 10.1002/ajmg.a.35312

  19. You have full text access to this OnlineOpen article
    Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model

    Journal of Neurochemistry

    Volume 129, Issue 6, June 2014, Pages: 1002–1012, Esther Imperlini, Stefania Orrù, Claudia Corbo, Aurora Daniele and Francesco Salvatore

    Article first published online : 24 MAR 2014, DOI: 10.1111/jnc.12683

  20. You have free access to this content
    Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene

    Journal of Intellectual Disability Research

    Volume 47, Issue 2, February 2003, Pages: 146–152, M. Giz·ewska, B. Cabalska, L. Cyrytowski, P. Nowacki, C. Z·ekanowski, M. Walczak, I. Józ´wiak and D. Koziarska

    Article first published online : 22 JAN 2003, DOI: 10.1046/j.1365-2788.2003.00449.x