Madrigal I - Search Results

1

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

Madrigal I, Xunclà M, Tejada MI, Martínez F, Fernández-Carvajal I, Pérez-Jurado LA, Rodriguez-Revenga L, Milà M. Madrigal I, et al. Eur J Hum Genet. 2011 Aug;19(8):921-3. doi: 10.1038/ejhg.2011.41. Epub 2011 Mar 23. Eur J Hum Genet. 2011. PMID: 21427756 Free PMC article.

2

46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosis.

Rodriguez-Revenga L, Badenas C, Madrigal I, Sánchez A, Soler A, Carrió A, Milà M. Rodriguez-Revenga L, et al. Among authors: madrigal i. Prenat Diagn. 2005 Jun;25(6):448-50. doi: 10.1002/pd.1150. Prenat Diagn. 2005. PMID: 15966059

3

A novel mutation in JARID1C gene associated with mental retardation.

Santos C, Rodriguez-Revenga L, Madrigal I, Badenas C, Pineda M, Milà M. Santos C, et al. Among authors: madrigal i. Eur J Hum Genet. 2006 May;14(5):583-6. doi: 10.1038/sj.ejhg.5201608. Eur J Hum Genet. 2006. PMID: 16538222

4

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

Madrigal I, Rodríguez-Revenga L, Badenas C, Sánchez A, Martinez F, Fernandez I, Fernández-Burriel M, Milà M. Madrigal I, et al. Genet Med. 2007 Feb;9(2):117-22. doi: 10.1097/gim.0b013e318031206e. Genet Med. 2007. PMID: 17304053 Free article.

5

Screening for FXTAS in 95 Spanish patients negative for Huntington disease.

Rodriguez-Revenga L, Santos MM, Sánchez A, Pujol M, Gómez-Anson B, Badenas C, Jiménez D, Madrigal I, Milà M. Rodriguez-Revenga L, et al. Among authors: madrigal i. Genet Test. 2008 Mar;12(1):135-8. doi: 10.1089/gte.2007.0074. Genet Test. 2008. PMID: 18373410

6

Evidence of depressive symptoms in fragile-X syndrome premutated females.

Rodriguez-Revenga L, Madrigal I, Alegret M, Santos M, Milà M. Rodriguez-Revenga L, et al. Among authors: madrigal i. Psychiatr Genet. 2008 Aug;18(4):153-5. doi: 10.1097/YPG.0b013e3282f97e0b. Psychiatr Genet. 2008. PMID: 18628675

7

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, Gomez B, Milà M. Rodriguez-Revenga L, et al. Among authors: madrigal i. Eur J Hum Genet. 2009 Oct;17(10):1359-62. doi: 10.1038/ejhg.2009.51. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367323 Free PMC article.

8

Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.

Rodriguez-Revenga L, Madrigal I, Badenas C, Xunclà M, Jiménez L, Milà M. Rodriguez-Revenga L, et al. Among authors: madrigal i. Menopause. 2009 Sep-Oct;16(5):944-9. doi: 10.1097/gme.0b013e3181a06a37. Menopause. 2009. PMID: 19373114

9

[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].

Milà M, Madrigal I, Kulisevsky J, Pagonabarraga J, Gómez B, Sánchez A, Rodríguez-Revenga L. Milà M, et al. Among authors: madrigal i. Med Clin (Barc). 2009 Jul 18;133(7):252-4. doi: 10.1016/j.medcli.2008.12.032. Epub 2009 May 26. Med Clin (Barc). 2009. PMID: 19473671 Spanish.

10

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Gómez-Fernández N, Castellví-Bel S, Fernández-Rozadilla C, Balaguer F, Muñoz J, Madrigal I, Milà M, Graña B, Vega A, Castells A, Carracedo A, Ruiz-Ponte C. Gómez-Fernández N, et al. Among authors: madrigal i. BMC Med Genet. 2009 Jun 16;10:57. doi: 10.1186/1471-2350-10-57. BMC Med Genet. 2009. PMID: 19531215 Free PMC article.

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