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There are 18224 results for: content related to: Reduced cancer incidence in Huntington's disease: record linkage study clue to an evolutionary trade-off?

  1. Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot–Marie–Tooth type 1 patients

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 388–391, G Koutsis, A Pandraud, G Karadima, M Panas, MM Reilly, P Floroskufi, NW Wood and H Houlden

    Article first published online : 5 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01910.x

  2. Frequency of DMPK mutation carriers in Korean women of childbearing age

    Clinical Genetics

    J-H Jang, JW Lee, E-H Cho, E-H Lee, J-W Kim and C-S Ki

    Article first published online : 26 NOV 2013, DOI: 10.1111/cge.12310

  3. A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

    Clinical Genetics

    J.W. Yun, K.I. Jo, H.I. Woo, S.-Y. Lee, C.-S. Ki, J.-W. Kim, J. Song, D.H. Lee, Y.-W. Lee and H.-D. Park

    Article first published online : 21 FEB 2014, DOI: 10.1111/cge.12350

  4. Hereditary inclusion body myopathy in Persian Jews: a case report from Iran

    Clinical Genetics

    M Miryounesi, P Soltanzadeh and MH Modarressi

    Article first published online : 10 JUL 2013, DOI: 10.1111/cge.12220

  5. Mother-to-daughter transmission of Kenny–Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His

    Clinical Genetics

    SM Nikkel, A Ahmed, A Smith, J Marcadier, DE Bulman and KM Boycott

    Article first published online : 23 OCT 2013, DOI: 10.1111/cge.12290

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    Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity

    Clinical Genetics

    K.-E. Lee, J. Ko, C.G. Tran Le, T.J. Shin, H.-K. Hyun, S.-H. Lee and J.-W. Kim

    Article first published online : 4 FEB 2014, DOI: 10.1111/cge.12340

  7. Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy

    Clinical Genetics

    M. Neřoldová, S. Fraňková, V. Stránecký, E. Honsová, O. Lukšan, M. Beneš, K. Michalová, S. Kmoch and M. Jirsa

    Article first published online : 12 FEB 2014, DOI: 10.1111/cge.12346

  8. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 296–297, H. Maruyama, H. Morino, R. Miyamoto, N. Murakami, T. Hamano and H. Kawakami

    Article first published online : 4 APR 2013, DOI: 10.1111/cge.12140

  9. Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290

    Clinical Genetics

    SR Ghaffari, M Rafati, G Ghaffari, M Morra and M Tekin

    Article first published online : 31 OCT 2013, DOI: 10.1111/cge.12296

  10. Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration

    Clinical Genetics

    L.-Y. Ma, L. Wang, Y.-M. Yang, Y. Lu, F.-B. Cheng and X.-H. Wan

    Article first published online : 1 APR 2014, DOI: 10.1111/cge.12341

  11. Overview of Bardet–Biedl syndrome in Spain: identification of novel mutations in BBS1,BBS10 and BBS12 genes

    Clinical Genetics

    M. Álvarez-Satta, S. Castro-Sánchez, I. Pereiro, T. Piñeiro-Gallego, M. Baiget, C. Ayuso and D. Valverde

    Article first published online : 26 JAN 2014, DOI: 10.1111/cge.12334

  12. A novel mutation of the leptin gene in an Indian patient

    Clinical Genetics

    S Thakur, A Kumar, S Dubey, R Saxena, ANC Peters and A Singhal

    Article first published online : 5 DEC 2013, DOI: 10.1111/cge.12289

  13. Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature

    Clinical Genetics

    JM Laffita-Mesa, LE Almaguer-Mederos, V Kourí, PO Bauer, Y Vázquez-Mojena, T Cruz Mariño and L Velázquez-Pérez

    Article first published online : 18 JUL 2013, DOI: 10.1111/cge.12221

  14. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 396–398, K. Nakamura, M. Kato, J. Tohyama, T. Shiohama, K. Hayasaka, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Article first published online : 9 JUN 2013, DOI: 10.1111/cge.12188

  15. Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 585–587, A Vargas-Hernández, L Berrón-Ruiz, T Staines-Boone, MdC Zarate-Hernández, WO Córdova-Calderón, FJ Espinosa-Rosales and L Santos-Argumedo

    Article first published online : 10 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01953.x

  16. Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 294–296, K Lee, I Chiu, RLP Santos-Cortez, S Basit, S Khan, Z Azeem, PB Andrade, SS Kim, W Ahmad and SM Leal

    Article first published online : 23 NOV 2012, DOI: 10.1111/cge.12047

  17. Disfluency: it is not always stuttering

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 298–299, M. Cosyns, Y. van Zaalen, G. Mortier, S. Janssens, A. Amez, J. Van Damme and J. Van Borsel

    Article first published online : 9 APR 2013, DOI: 10.1111/cge.12144

  18. Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot–Marie–Tooth neuropathy

    Clinical Genetics

    Y.S. Hyun, H.J. Park, S.-H. Heo, B.R. Yoon, S.H. Nam, S.-B. Kim, C.I. Park, B.-O. Choi and K.W. Chung

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12327

  19. OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 91–93, T Kausar, MA Bhatti, M Ali, RS Shaikh and ZM Ahmed

    Article first published online : 10 OCT 2012, DOI: 10.1111/cge.12019

  20. SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil

    Clinical Genetics

    MC França Jr, DB Dogini, A D'Abreu, HAG Teive, RP Munhoz, S Raskin, A Moro, CC Melo, AP Gomes, JAM Saute, LB Jardim and I Lopes-Cendes

    Article first published online : 5 SEP 2013, DOI: 10.1111/cge.12252