Naudó M - Search Results

1

Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.

Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell M, Naudó M, Camós M, Rives S. Berrueco R, et al. Among authors: naudo m. Pediatr Blood Cancer. 2015 Jul;62(7):1195-201. doi: 10.1002/pbc.25457. Epub 2015 Apr 8. Pediatr Blood Cancer. 2015. PMID: 25855413

2

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

Martorell L, Tondo M, Garcia-Fructuoso F, Naudo M, Alegre C, Gamez J, Genovés J, Poo P. Martorell L, et al. Among authors: naudo m. Clin Rheumatol. 2012 Nov;31(11):1611-5. doi: 10.1007/s10067-012-2052-y. Epub 2012 Aug 18. Clin Rheumatol. 2012. PMID: 22903700

3

Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role?

Tondo M, Poo P, Naudó M, Ferrando T, Genovés J, Molero M, Martorell L. Tondo M, et al. Among authors: naudo m. Epilepsy Behav. 2011 Nov;22(3):581-3. doi: 10.1016/j.yebeh.2011.08.003. Epub 2011 Sep 3. Epilepsy Behav. 2011. PMID: 21890420

4

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

Martorell L, Nascimento MT, Colome R, Genovés J, Naudó M, Nascimento A. Martorell L, et al. Among authors: naudo m. J Hum Genet. 2011 Jan;56(1):87-90. doi: 10.1038/jhg.2010.140. Epub 2010 Nov 25. J Hum Genet. 2011. PMID: 21107340

5

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F. Yrigollen CM, et al. Among authors: naudo m. J Neurodev Disord. 2014;6(1):24. doi: 10.1186/1866-1955-6-24. Epub 2014 Jul 30. J Neurodev Disord. 2014. PMID: 25110527 Free PMC article.

6

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. Among authors: naudo m. Prenat Diagn. 2007 Jan;27(1):68-72. doi: 10.1002/pd.1627. Prenat Diagn. 2007. PMID: 17154336

7

Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

Karall D, Haberlandt E, Scholl-Bürgi S, Baumgartner S, Naudó M, Martorell L. Karall D, et al. Among authors: naudo m. Eur J Med Genet. 2007 Nov-Dec;50(6):465-8. doi: 10.1016/j.ejmg.2007.07.001. Epub 2007 Aug 6. Eur J Med Genet. 2007. PMID: 17881312

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