Search Results

There are 2977194 results for: content related to: The Ala53Thr mutation in the α-synuclein gene in a Korean family with Parkinson disease

  1. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred – a possible new syndrome

    Clinical Genetics

    Volume 59, Issue 2, February 2001, Pages: 99–105, H Schmidt, G Rudolph, M Hergersberg, K Schneider, S Moradi and T Meitinger*

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590206.x

  2. Toward understanding the genetic basis of neural tube defects

    Clinical Genetics

    Volume 71, Issue 4, April 2007, Pages: 295–310, Z Kibar, V Capra and P Gros

    Article first published online : 25 APR 2007, DOI: 10.1111/j.1399-0004.2007.00793.x

  3. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

    Clinical Genetics

    Volume 71, Issue 1, January 2007, Pages: 67–75, M Leipoldt, M Erdel, GA Bien-Willner, M Smyk, M Theurl, SA Yatsenko, JR Lupski, AH Lane, AL Shanske, P Stankiewicz and G Scherer

    Article first published online : 14 DEC 2006, DOI: 10.1111/j.1399-0004.2007.00736.x

  4. Niemann–Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2

    Clinical Genetics

    Volume 71, Issue 4, April 2007, Pages: 320–330, L Verot, K Chikh, E Freydière, R Honoré, MT Vanier and G Millat

    Article first published online : 25 APR 2007, DOI: 10.1111/j.1399-0004.2007.00782.x

  5. Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC

    Clinical Genetics

    Volume 71, Issue 2, February 2007, Pages: 130–139, A Stella, NC Surdo, P Lastella, D Barana, C Oliani, MG Tibiletti, A Viel, C Natale, A Piepoli, G Marra and G Guanti

    Article first published online : 8 JAN 2007, DOI: 10.1111/j.1399-0004.2007.00745.x

  6. Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis

    Clinical Genetics

    Volume 71, Issue 5, May 2007, Pages: 406–414, W Chen, NC Meyer, MJ McKenna, M Pfister, DJ McBride Jr, K Fukushima, M Thys, GV Camp and RJH Smith

    Article first published online : 2 MAY 2007, DOI: 10.1111/j.1399-0004.2007.00794.x

  7. Mutations in the RSK2(RPS6KA3) gene cause Coffin–Lowry syndrome and nonsyndromic X-linked mental retardation

    Clinical Genetics

    Volume 70, Issue 6, December 2006, Pages: 509–515, M Field, P Tarpey, J Boyle, S Edkins, J Goodship, Y Luo, J Moon, J Teague, MR Stratton, PA Futreal, R Wooster, FL Raymond and G Turner

    Article first published online : 10 NOV 2006, DOI: 10.1111/j.1399-0004.2006.00723.x

  8. Interpupillary distance in a normal black population

    Clinical Genetics

    Volume 55, Issue 3, March 1999, Pages: 182–191, EK Pivnick, ML Rivas, EA Tolley, SD Smith and GJ Presbury

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550306.x

  9. Partial DiGeorge syndrome in two patients with a 10p rearrangement

    Clinical Genetics

    Volume 55, Issue 4, April 1999, Pages: 269–276, Hilde Van Esch, Peter Groenen, Sarah Daw, Ann Poffyn, Maureen Holvoet, Peter Scambler, Jean-Pierre Fryns, Wim Van de Ven and Koen Devriendt

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550410.x

  10. Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population

    Clinical Genetics

    Volume 70, Issue 6, December 2006, Pages: 516–523, C Casasnovas, I Banchs, J Corral, JA Martínez-Matos and V Volpini

    Article first published online : 10 NOV 2006, DOI: 10.1111/j.1399-0004.2006.00724.x

    Corrected by:

    Corrigendum

    Vol. 71, Issue 2, 194, Article first published online: 23 JAN 2007

    Corrected by:

    Corrigendum

    Vol. 73, Issue 2, 196, Article first published online: 10 JAN 2008

  11. A new classification system for primary lymphatic dysplasias based on phenotype

    Clinical Genetics

    Volume 77, Issue 5, May 2010, Pages: 438–452, F Connell, G Brice, S Jeffery, V Keeley, P Mortimer and S Mansour

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01394.x

  12. Current status of thalassemia in minority populations in Guangxi, China

    Clinical Genetics

    Volume 71, Issue 5, May 2007, Pages: 419–426, HF Pan, GF Long, Q Li, YN Feng, ZY Lei, HW Wei, YY Huang, JH Huang, N Lin, QQ Xu, SY Ling, XJ Chen and T Huang

    Article first published online : 25 APR 2007, DOI: 10.1111/j.1399-0004.2007.00791.x

  13. Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms

    Clinical Genetics

    Volume 71, Issue 1, January 2007, Pages: 46–58, G Gagné, D Reinharz, N Laflamme, PC Adams and F Rousseau

    Article first published online : 14 DEC 2006, DOI: 10.1111/j.1399-0004.2006.00727.x

  14. Identification of four novel mutations in five unrelated Korean families with Fabry disease

    Clinical Genetics

    Volume 58, Issue 3, September 2000, Pages: 228–233, J-K Lee, G-H Kim, J-S Kim, K-K Kim, M-C Lee and H-W Yoo

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580311.x

  15. Birth defects before epigenesis

    Clinical Genetics

    Volume 74, Issue 4, October 2008, Pages: 338–342, HA Tucker

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.2008.01020.x

  16. Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

    Clinical Genetics

    Volume 60, Issue 3, September 2001, Pages: 206–211, C Orellana, F Martínez, L Badía, JM Millán, MR Montero, J Andrés and F Prieto

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600306.x

  17. Short rib-polydactyly syndrome: more evidence of a continuous spectrum

    Clinical Genetics

    Volume 56, Issue 2, August 1999, Pages: 145–148, Kyriake Sarafoglou, Edmund F Funai, Nancy Fefferman, Laura Zajac, Nancy Geneiser, Michael J Paidas, Alba Greco and Robert Wallerstein

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560209.x

  18. The natural history of sclerosteosis

    Clinical Genetics

    Volume 63, Issue 3, March 2003, Pages: 192–197, H Hamersma, J Gardner and P Beighton

    Article first published online : 12 APR 2003, DOI: 10.1034/j.1399-0004.2003.00036.x

  19. Chimera and other fertilization errors

    Clinical Genetics

    Volume 70, Issue 5, November 2006, Pages: 363–373, V Malan, M Vekemans and C Turleau

    Article first published online : 14 SEP 2006, DOI: 10.1111/j.1399-0004.2006.00689.x

  20. New insights in congenital bowing of the femora

    Clinical Genetics

    Volume 66, Issue 3, September 2004, Pages: 169–176, V Cormier-Daire, D Geneviève, A Munnich and M Le Merrer

    Article first published online : 20 AUG 2004, DOI: 10.1111/j.0009-9163.2004.00307.x