MLH1 methylation screening is effective in identifying epimutation carriers (English)
- New search for: Pineda, M.
- New search for: Mur, P.
- New search for: Iniesta, M. D.
- New search for: Borras, E.
- New search for: Campos, O.
- New search for: Vargas, G.
- New search for: Iglesias, S.
- New search for: Fernandez, A.
- New search for: Gruber, S. B.
- New search for: Lazaro, C.
- New search for: Pineda, M.
- New search for: Mur, P.
- New search for: Iniesta, M. D.
- New search for: Borras, E.
- New search for: Campos, O.
- New search for: Vargas, G.
- New search for: Iglesias, S.
- New search for: Fernandez, A.
- New search for: Gruber, S. B.
- New search for: Lazaro, C.
In:
EUROPEAN JOURNAL OF HUMAN GENETICS
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20
, 12
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1256-1264
;
2012
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ISSN:
- Article (Journal) / Print
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Title:MLH1 methylation screening is effective in identifying epimutation carriers
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Contributors:Pineda, M. ( author ) / Mur, P. ( author ) / Iniesta, M. D. ( author ) / Borras, E. ( author ) / Campos, O. ( author ) / Vargas, G. ( author ) / Iglesias, S. ( author ) / Fernandez, A. ( author ) / Gruber, S. B. ( author ) / Lazaro, C. ( author )
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Published in:EUROPEAN JOURNAL OF HUMAN GENETICS ; 20, 12 ; 1256-1264
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Publisher:
- New search for: Nature Publishing Group
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Publication date:2012-01-01
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Size:9 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 599.435
- Further information on Dewey Decimal Classification
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Classification:
DDC: 599.435 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 20, Issue 12
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1203
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Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2Kamsteeg, E. J. / Kress, W. / Catalli, C. / Hertz, J. M. / Witsch-Baumgartner, M. / Buckley, M. F. / van Engelen, B. G. / Schwartz, M. / Scheffer, H. et al. | 2012
- 1209
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Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment dataBerwouts, S. / Girodon, E. / Schwarz, M. / Stuhrmann, M. / Morris, M. A. / Dequeker, E. et al. | 2012
- 1216
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14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elementsAllou, L. / Lambert, L. / Amsallem, D. / Bieth, E. / Edery, P. / Destree, A. / Rivier, F. / Amor, D. / Thompson, E. / Nicholl, J. et al. | 2012
- 1224
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PITX2 and FOXC1 spectrum of mutations in ocular syndromesReis, L. M. / Tyler, R. C. / Volkmann Kloss, B. A. / Schilter, K. F. / Levin, A. V. / Lowry, R. B. / Zwijnenburg, P. J. / Stroh, E. / Broeckel, U. / Murray, J. C. et al. | 2012
- 1234
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Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophyBello, L. / Melacini, P. / Pezzani, R. / D'Amico, A. / Piva, L. / Leonardi, E. / Torella, A. / Soraru, G. / Palmieri, A. / Smaniotto, G. et al. | 2012
- 1240
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Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletionsSchaaf, C. P. / Boone, P. M. / Sampath, S. / Williams, C. / Bader, P. I. / Mueller, J. M. / Shchelochkov, O. A. / Brown, C. W. / Crawford, H. P. / Phalen, J. A. et al. | 2012
- 1248
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Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1qDekel-Naftali, M. / Aviram-Goldring, A. / Litmanovitch, T. / Shamash, J. / Reznik-Wolf, H. / Laevsky, I. / Amit, M. / Itskovitz-Eldor, J. / Yung, Y. / Hourvitz, A. et al. | 2012
- 1256
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MLH1 methylation screening is effective in identifying epimutation carriersPineda, M. / Mur, P. / Iniesta, M. D. / Borras, E. / Campos, O. / Vargas, G. / Iglesias, S. / Fernandez, A. / Gruber, S. B. / Lazaro, C. et al. | 2012
- 1265
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Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expressionSchmitt, I. / Wullner, U. / van Rooyen, J. P. / Khazneh, H. / Becker, J. / Volk, A. / Kubisch, C. / Becker, T. / Kostic, V. S. / Klein, C. et al. | 2012
- 1270
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Analytical and simulation methods for estimating the potential predictive ability of genetic profiling: a comparison of methods and resultsKundu, S. / Karssen, L. C. / Janssens, A. C. et al. | 2012
- 1275
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Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the CaucasusRootsi, S. / Myres, N. M. / Lin, A. A. / Jarve, M. / King, R. J. / Kutuev, I. / Cabrera, V. M. / Khusnutdinova, E. K. / Varendi, K. / Sahakyan, H. et al. | 2012
- 1283
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Inferring separate parental admixture components in unknown DNA samples using autosomal SNPsCrouch, D. J. / Weale, M. E. et al. | 2012
- 1290
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A novel missense mutation in the signal peptide of the human POMC gene: a possible additional link between early-onset type 2 diabetes and obesityMencarelli, M. / Zulian, A. / Cancello, R. / Alberti, L. / Gilardini, L. / Di Blasio, A. M. / Invitti, C. et al. | 2012
- 1295
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Copy number variation in patients with cervical artery dissectionGrond-Ginsbach, C. / Chen, B. / Pjontek, R. / Wiest, T. / Jiang, Y. / Burwinkel, B. / Tchatchou, S. / Krawczak, M. / Schreiber, S. / Brandt, T. et al. | 2012
- 1300
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Efficiency of trans-ethnic genome-wide meta-analysis and fine-mappingTwee-Hee Ong, R. / Wang, X. / Liu, X. / Teo, Y. Y. et al. | 2012
- 1308
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Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosumTamura, D. / Khan, S. G. / Merideth, M. / DiGiovanna, J. J. / Tucker, M. A. / Goldstein, A. M. / Oh, K. S. / Ueda, T. / Boyle, J. / Sarihan, M. et al. | 2012
- 1311
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Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Shoubridge, C. / Gardner, A. / Schwartz, C. E. / Hackett, A. / Field, M. / Gecz, J. et al. | 2012
- 1315
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Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesityHalgren, C. / Bache, I. / Bak, M. / Myatt, M. W. / Anderson, C. M. / Brondum-Nielsen, K. / Tommerup, N. et al. | 2012
- 1320
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Quantifying harmful mutations in human populationsSubramanian, S. et al. | 2012