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There are 12390 results for: content related to: The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4

  1. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 565–570, T Sevilla, D Martínez-Rubio, C Márquez, C Paradas, J Colomer, T Jaijo, JM Millán, F Palau and C Espinós

    Article first published online : 10 OCT 2012, DOI: 10.1111/cge.12015

  2. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes

    Journal of the Peripheral Nervous System

    Volume 18, Issue 2, June 2013, Pages: 113–129, Meriem Tazir, Mounia Bellatache, Sonia Nouioua and Jean-Michel Vallat

    Article first published online : 19 JUN 2013, DOI: 10.1111/jns5.12026

  3. Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C

    Journal of the Peripheral Nervous System

    Volume 17, Issue 1, March 2012, Pages: 112–122, Marion Yger, Tanya Stojkovic, Sandrine Tardieu, Thierry Maisonobe, Alexis Brice, Andoni Echaniz-Laguna, Yves Alembik, Samantha Girard, Cécile Cazeneuve, Eric LeGuern and Odile Dubourg

    Article first published online : 28 MAR 2012, DOI: 10.1111/j.1529-8027.2012.00382.x

  4. Demyelinating prenatal and infantile developmental neuropathies

    Journal of the Peripheral Nervous System

    Volume 17, Issue 1, March 2012, Pages: 32–52, Eppie M. Yiu and Monique M. Ryan

    Article first published online : 28 MAR 2012, DOI: 10.1111/j.1529-8027.2012.00379.x

  5. Roma (Gypsies): Genetic Studies

    Standard Article

    eLS

    Bharti Morar, Dimitar N Azmanov and Luba Kalaydjieva

    Published Online : 15 APR 2013, DOI: 10.1002/9780470015902.a0006239.pub3

  6. Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles

    Clinical Genetics

    Volume 41, Issue 3, March 1992, Pages: 123–128, L. Kalaydjieva, B. Dworniczak, I. Kromensky, K. Koprivarova, B. Radeva, R. Milusheva, C. Aulehla-Scholz and J. Horst

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1992.tb03647.x

  7. CMT4D (NDRG1 mutation): genotype–phenotype correlations

    Journal of the Peripheral Nervous System

    Volume 18, Issue 3, September 2013, Pages: 261–265, Emilie Ricard, Stéphane Mathis, Corinne Magdelaine, Marie-Bernadette Delisle, Laurent Magy, Benoît Funalot and Jean-Michel Vallat

    Article first published online : 12 SEP 2013, DOI: 10.1111/jns5.12039

  8. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

    Human Mutation

    Volume 22, Issue 2, August 2003, Pages: 129–135, Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian J. Martins, Ivailo Tournev, Albena Jordanova, Velina Guergelcheva, Boryana Ishpekova, Ivo Kremensky, Garth Nicholson, Beate Schlotter, Hanns Lochmüller, Thomas Voit, Jaume Colomer, P.K. Thomas, Nicolas Levy and Luba Kalaydjieva

    Article first published online : 23 JUN 2003, DOI: 10.1002/humu.10240

  9. You have free access to this content
    A Perspective on the History of the Iberian Gypsies Provided by Phylogeographic Analysis of Y-Chromosome Lineages

    Annals of Human Genetics

    Volume 72, Issue 2, March 2008, Pages: 215–227, A. Gusmão, L. Gusmão, V. Gomes, C. Alves, F. Calafell, A. Amorim and M. J. Prata

    Article first published online : 20 JAN 2008, DOI: 10.1111/j.1469-1809.2007.00421.x

  10. Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene

    Human Mutation

    Volume 1, Issue 1, 1992, Pages: 13–23, Randy C. Eisensmith and Savio L. C. Woo

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380010104

  11. Bipolar disorder in the Bulgarian Gypsies: Genetic heterogeneity in a young founder population

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 150B, Issue 2, 5 March 2009, Pages: 191–201, Radka Kaneva, Vihra Milanova, Dora Angelicheva, Stuart MacGregor, Christian Kostov, Rositza Vladimirova, Spiridon Aleksiev, Mina Angelova, Vessela Stoyanova, Angeline Loh, Joachim Hallmayer, Luba Kalaydjieva and Assen Jablensky

    Article first published online : 28 APR 2008, DOI: 10.1002/ajmg.b.30775

  12. Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?

    Human Mutation

    Volume 1, Issue 2, 1992, Pages: 138–146, Bernd Dworniczak, Luba Kalaydjieva, Sabine Pankoke, Christa Aulehla-Scholz, Gregory Allen and Jürgen Horst

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380010209

  13. Reconstructing the Origins and Migrations of Diasporic Populations: The Case of the European Gypsies

    American Anthropologist

    Volume 106, Issue 2, June 2004, Pages: 267–281, RADU P. IOVIT̨Ă and THEODORE G. SCHURR

    Article first published online : 7 JAN 2008, DOI: 10.1525/aa.2004.106.2.267

  14. Divergent patrilineal signals in three Roma populations

    American Journal of Physical Anthropology

    Volume 144, Issue 1, January 2011, Pages: 80–91, Maria Regueiro, Aleksandar Stanojevic, Shilpa Chennakrishnaiah, Luis Rivera, Tatjana Varljen, Djordje Alempijevic, Oliver Stojkovic, Tanya Simms, Tenzin Gayden and Rene J. Herrera

    Article first published online : 27 SEP 2010, DOI: 10.1002/ajpa.21372

  15. A newly discovered founder population: the Roma/Gypsies

    BioEssays

    Volume 27, Issue 10, October 2005, Pages: 1084–1094, Luba Kalaydjieva, Bharti Morar, Raphaelle Chaix and Hua Tang

    Article first published online : 14 SEP 2005, DOI: 10.1002/bies.20287

  16. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population

    Journal of the Peripheral Nervous System

    Volume 19, Issue 4, December 2014, Pages: 292–298, Fiore Manganelli, Stefano Tozza, Chiara Pisciotta, Emilia Bellone, Rosa Iodice, Maria Nolano, Alessandro Geroldi, Simona Capponi, Paola Mandich and Lucio Santoro

    Article first published online : 8 FEB 2015, DOI: 10.1111/jns.12092

  17. You have free access to this content
    Novel mutations in the GALK1 gene in patients with galactokinase deficiency

    Human Mutation

    Volume 17, Issue 1, 2001, Pages: 77–78, Michael Hunter, Dora Angelicheva, Harvey L. Levy, Sigfried M. Pueschel and Luba Kalaydjieva

    Article first published online : 22 DEC 2000, DOI: 10.1002/1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H

  18. You have free access to this content
    Mitochondrial DNA Variability in Slovaks, with Application to the Roma Origin

    Annals of Human Genetics

    Volume 72, Issue 2, March 2008, Pages: 228–240, B. A. Malyarchuk, M. A. Perkova, M. V. Derenko, T. Vanecek, J. Lazur and P. Gomolcak

    Article first published online : 20 JAN 2008, DOI: 10.1111/j.1469-1809.2007.00410.x

  19. Impact of the Reelin signaling cascade (Ligands–Receptors–Adaptor Complex) on cognition in schizophrenia

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 4, June 2012, Pages: 392–404, Phebe Verbrugghe, Sonja Bouwer, Steven Wiltshire, Kim Carter, David Chandler, Matthew Cooper, Bharti Morar, Muhammad F.M. Razif, Anjali Henders, Johanna C. Badcock, Milan Dragovic, Vaughan Carr, Osvaldo P. Almeida, Leon Flicker, Grant Montgomery, Assen Jablensky and Luba Kalaydjieva

    Article first published online : 14 MAR 2012, DOI: 10.1002/ajmg.b.32042

  20. The role of the Vlax Roma in shaping the European Romani maternal genetic history

    American Journal of Physical Anthropology

    Volume 146, Issue 2, October 2011, Pages: 262–270, Marijana Peričić Salihović, Ana Barešić, Irena Martinović Klarić, Slavena Cukrov, Lovorka Barać Lauc and Branka Janićijević

    Article first published online : 16 AUG 2011, DOI: 10.1002/ajpa.21566