Martorell L - Search Results

1

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.

Martorell L, Gámez J, Cayuela ML, Gould FK, McAbney JP, Ashizawa T, Monckton DG, Baiget M. Martorell L, et al. Neurology. 2004 Jan 27;62(2):269-74. doi: 10.1212/wnl.62.2.269. Neurology. 2004. PMID: 14745066

2

Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period.

Martorell L, Martinez JM, Carey N, Johnson K, Baiget M. Martorell L, et al. J Med Genet. 1995 Aug;32(8):593-6. doi: 10.1136/jmg.32.8.593. J Med Genet. 1995. PMID: 7473648 Free PMC article.

3

Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development.

Martorell L, Johnson K, Boucher CA, Baiget M. Martorell L, et al. Hum Mol Genet. 1997 Jun;6(6):877-80. doi: 10.1093/hmg/6.6.877. Hum Mol Genet. 1997. PMID: 9175733

4

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.

Martorell L, Monckton DG, Gamez J, Johnson KJ, Gich I, Lopez de Munain A, Baiget M. Martorell L, et al. Hum Mol Genet. 1998 Feb;7(2):307-12. doi: 10.1093/hmg/7.2.307. Hum Mol Genet. 1998. PMID: 9425239

5

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.

Martorell L, Monckton DG, Gamez J, Baiget M. Martorell L, et al. Eur J Hum Genet. 2000 Jun;8(6):423-30. doi: 10.1038/sj.ejhg.5200478. Eur J Hum Genet. 2000. PMID: 10878662 Free article.

6

Frequency and stability of the myotonic dystrophy type 1 premutation.

Martorell L, Monckton DG, Sanchez A, Lopez De Munain A, Baiget M. Martorell L, et al. Neurology. 2001 Feb 13;56(3):328-35. doi: 10.1212/wnl.56.3.328. Neurology. 2001. PMID: 11171897

7

Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families.

Martorell L, Cobo AM, Baiget M, Naudó M, Poza JJ, Parra J. Martorell L, et al. Prenat Diagn. 2007 Jan;27(1):68-72. doi: 10.1002/pd.1627. Prenat Diagn. 2007. PMID: 17154336

8

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy.

Tondo M, Gámez J, Gutiérrez-Rivas E, Medel-Jiménez R, Martorell L. Tondo M, et al. Among authors: martorell l. J Neurol. 2012 Aug;259(8):1546-52. doi: 10.1007/s00415-011-6374-5. Epub 2012 Jan 10. J Neurol. 2012. PMID: 22231868

9

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

Cobo AM, Poza JJ, Martorell L, López de Munain A, Emparanza JI, Baiget M. Cobo AM, et al. Among authors: martorell l. J Med Genet. 1995 Feb;32(2):105-8. doi: 10.1136/jmg.32.2.105. J Med Genet. 1995. PMID: 7760317 Free PMC article.

10

[Direct genotypic analysis of myotonic dystrophy: detection of an unstable DNA fragment in carriers].

Cobo AM, Martorell L, López de Munain A, Basauri B, Martínez JM, Johnson K, Baiget M. Cobo AM, et al. Among authors: martorell l. Med Clin (Barc). 1993 Mar 13;100(10):361-4. Med Clin (Barc). 1993. PMID: 8097270 Spanish.

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