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There are 18138 results for: content related to: TREM2 : a new risk factor for Alzheimer's disease

  1. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 20–30, TB Rasmussen, J Hansen, PH Nissen, J Palmfeldt, S Dalager, UB Jensen, WY Kim, L Heickendorff, H Mølgaard, HK Jensen, KE Sørensen, UT Baandrup, P Bross and J Mogensen

    Article first published online : 3 DEC 2012, DOI: 10.1111/cge.12056

  2. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12196

  3. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 321–331, KA Hodgkinson, SP Connors, N Merner, A Haywood, T-L Young, WJ McKenna, B Gallagher, F Curtis, AS Bassett and PS Parfrey

    Article first published online : 13 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01919.x

  4. Estimating survival rates after ovarian cancer among women tested for BRCA1 and BRCA2 mutations

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 232–237, SA Narod, JRK Moody, B Rosen, I Fan, A Risch, P Sun and JR McLaughlin

    Article first published online : 3 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01906.x

  5. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 31–36, M Rio, G Royer, S Gobin, MC de Blois, C Ozilou, A Bernheim, M Nizon, A Munnich, J-P Bonnefont, S Romana, M Vekemans, C Turleau and V Malan

    Article first published online : 4 NOV 2012, DOI: 10.1111/cge.12036

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    Retinal optogenetic therapies: clinical criteria for candidacy

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 175–182, S G Jacobson, A Sumaroka, X Luo and A V Cideciyan

    Article first published online : 13 MAY 2013, DOI: 10.1111/cge.12165

  7. Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 37–42, SL Ingham, J Warwick, H Byers, F Lalloo, WG Newman and DGR Evans

    Article first published online : 20 NOV 2012, DOI: 10.1111/cge.12035

  8. Genetic heterogeneity in Pakistani microcephaly families

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 446–451, M Sajid Hussain, S Marriam Bakhtiar, M Farooq, I Anjum, E Janzen, M Reza Toliat, H Eiberg, KW Kjaer, N Tommerup, AA Noegel, P Nürnberg, SM Baig and L Hansen

    Article first published online : 7 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01932.x

  9. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

    Clinical Genetics

    S Sheikhzadeh, C Sondermann, M Rybczynski, CR Habermann, L Brockstaedt, B Keyser, H Kaemmerer, T Mir, A Staebler, PN Robinson, K Kutsche, J Berger, S Blankenberg and Y von Kodolitsch

    Article first published online : 23 SEP 2013, DOI: 10.1111/cge.12264

  10. X-linked CHARGE-like Abruzzo–Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 352–358, E Pauws, E Peskett, C Boissin, A Hoshino, K Mengrelis, E Carta, MA Abruzzo, M Lees, GE Moore, RP Erickson and P Stanier

    Article first published online : 7 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01930.x

  11. Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet–Biedl syndrome

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 553–559, E Ashkinadze, T Rosen, SS Brooks, N Katsanis and EE Davis

    Article first published online : 14 OCT 2012, DOI: 10.1111/cge.12022

  12. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 213–222, H Carmichael, Y Shen, TT Nguyen, JN Hirschhorn and A Dauber

    Article first published online : 20 DEC 2012, DOI: 10.1111/cge.12064

  13. A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 530–538, E García-Molina, J Lacunza, F Ruiz-Espejo, M Sabater, A García-Alberola, JR Gimeno, F Cañizares, A García, P Martínez, M Valdés and I Tovar

    Article first published online : 16 OCT 2012, DOI: 10.1111/cge.12017

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    eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 190–197, D Blain, K E Goetz, R Ayyagari and S J Tumminia

    Article first published online : 5 JUN 2013, DOI: 10.1111/cge.12193

  15. Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 65–69, S Seidenari, G Pellacani, S Nasti, A Tomasi, L Pastorino, P Ghiorzo, C Ruini, G Bianchi-Scarrà, A Pollio, VD Mandel and G Ponti

    Article first published online : 8 NOV 2012, DOI: 10.1111/cge.12040

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

    Clinical Genetics

    E Weh, LM Reis, RC Tyler, D Bick, WJ Rhead, S Wallace, TL McGregor, SK Dills, M-C Chao, JC Murray and EV Semina

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

  17. Cross-sectional assessment of pain and physical function in skeletal dysplasia patients

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 237–243, Y Alade, D Tunkel, K Schulze, J McGready, G Jallo, M Ain, T Yost and J Hoover-Fong

    Article first published online : 29 NOV 2012, DOI: 10.1111/cge.12045

  18. You have full text access to this OnlineOpen article
    Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 167–174, J L Wiggs, G R Howell, K Linkroum, W Abdrabou, E Hodges, C E Braine, L R Pasquale, G J Hannon, J L Haines and S W M John

    Article first published online : 27 MAY 2013, DOI: 10.1111/cge.12176

  19. An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 337–344, Y Hilhorst-Hofstee, AJHA Scholte, MEB Rijlaarsdam, A van Haeringen, LJ Kroft, M Reijnierse, CAL Ruivenkamp, MIM Versteegh, G Pals and MH Breuning

    Article first published online : 21 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01931.x

  20. Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 545–552, C Zhang, Y Zhu, F Huang, G Jiang, J Chang and R Li

    Article first published online : 27 SEP 2012, DOI: 10.1111/cge.12008