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There are 2995074 results for: content related to: Association between polymorphism of the cholecystokinin gene and idiopathic Parkinson's disease

  1. Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592+5G[RIGHTWARDS ARROW]A splice site mutation in the low-density lipoprotein receptor gene

    Clinical Genetics

    Volume 56, Issue 5, November 1999, Pages: 379–389, Hk Jensen, Lg Jensen, Hu Holst, Ph Andreasen, Ps Hansen, Ml Larsen, S Kølvraa, L Bolund, N Gregersen and O Færgeman

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560506.x

  2. Genetic and segregation analysis of congenital cataract in the Indian population

    Clinical Genetics

    Volume 56, Issue 5, November 1999, Pages: 389–393, Jai Rup Vanita, Daljit Singh and Singh

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560507.x

  3. Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis

    Clinical Genetics

    Volume 59, Issue 5, May 2001, Pages: 344–349, G Siciliano, ML Manca, M Gennarelli, C Angelini, A Rocchi, A Iudice, M Miorin and ML Mostacciuolo

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.590508.x

  4. Utility of the predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men aged 65 to 84 years is dependent on context defined by Apo E genotype and area of residence

    Clinical Genetics

    Volume 56, Issue 5, November 1999, Pages: 368–378, Jari H Stengård, Sharon L Kardia, Markku Tervahauta, Christian Ehnholm, Aulikki Nissinen and Charles F Sing

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560505.x

  5. Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22)

    Clinical Genetics

    Volume 56, Issue 5, November 1999, Pages: 363–367, Sara Arab, David Chitayat, H Allen Gardner and Elizabeth Jt Winsor

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560504.x

  6. The malformed kidney: disruption of glomerular and tubular development

    Clinical Genetics

    Volume 56, Issue 5, November 1999, Pages: 342–357, Tino D Piscione and Norman D Rosenblum

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560502.x

  7. 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

  8. Identification of two de novo partial trisomies by comparative genomic hybridization

    Clinical Genetics

    Volume 59, Issue 2, February 2001, Pages: 106–110, Ma Rigola, M Carrera, I Ribas, C De La Iglesia, B Mendez, J Egozcue and C Fuster

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590207.x

  9. Polyvariant mutant CFTR genes in patients with chronic pancreatitis

    Clinical Genetics

    Volume 56, Issue 5, November 1999, Pages: 401–405, C Arduino, M Gallo, A Brusco, S Garnerone, Mr Piana, S Di Maggio, G Gerbino Promis, M Ferrone, A Angeli and E Gaia

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560509.x

  10. Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review

    Clinical Genetics

    Volume 60, Issue 5, November 2001, Pages: 366–370, KA Rauen, SM Bitts, L Li, M Golabi and PD Cotter

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600508.x

  11. A family with a grand-maternally derived interstitial duplication of proximal 15q

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 421–430, FZ Boyar, MM Whitney, AC Lossie, BA Gray, KL Keller, HJ Stalker, RT Zori, G Geffken, J Mutch, PJ Edge, KS Voeller, CA Williams and DJ Driscoll

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600604.x

  12. The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

    Clinical Genetics

    Volume 59, Issue 6, June 2001, Pages: 375–386, MJM Nowaczyk and JS Waye

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590601.x

  13. The beta-globin locus control region versus gene therapy vectors: a struggle for expression

    Clinical Genetics

    Volume 59, Issue 1, January 2001, Pages: 17–24, J Ellis and D Pannell

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590103.x

  14. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient

    Clinical Genetics

    Volume 59, Issue 6, June 2001, Pages: 430–437, I Dalal, E Grunebaum, A Cohen and CM Roifman

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590608.x

  15. The fragile X gene and its function

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 399–408, BA Oostra and P Chiurazzi

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600601.x

  16. Real-time quantitative PCR analysis for α-thalassemia-1 of Southeast Asian type deletion in Taiwan

    Clinical Genetics

    Volume 60, Issue 4, October 2001, Pages: 305–309, Chien-Feng Sun, Chien-Hong Lee, Shue-Wei Cheng, Mei-Hui Lin, Tsu-Lan Wu, Kuo-Chien Tsao, Daniel TY Chiu, Jui-Der Liou and Da-Chang Chu

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600409.x

  17. Advances in the detection of chromosomal aberrations using spectral karyotyping

    Clinical Genetics

    Volume 59, Issue 2, February 2001, Pages: 65–73, J Bayani and JA Squire

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590201.x

  18. Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21

    Clinical Genetics

    Volume 59, Issue 1, January 2001, Pages: 28–36, D Tackels-Horne, A Toburen, E Sangiorgi, F Gurrieri, X De Mollerat, R Fischetto, F Causio, K Clarkson, Re Stevenson and Ce Schwartz

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590105.x

  19. A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome

    Clinical Genetics

    Volume 58, Issue 6, December 2000, Pages: 483–487, Bba De Vries, M Bitner-Glindzicz, Sjl Knight, J Tyson, Kd MacDermot, J Flint, S Malcolm and Rm Winter

    Article first published online : 7 JUL 2008, DOI: 10.1034/j.1399-0004.2000.580610.x

  20. Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p

    Clinical Genetics

    Volume 59, Issue 4, April 2001, Pages: 274–278, EM McGhee, Y Qu, MM Wohlferd, JD Goldberg, ME Norton and PD Cotter

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.590410.x