Madrigal I - Search Results

1

Novel MLH1 duplication identified in Colombian families with Lynch syndrome.

Alonso-Espinaco V, Giráldez MD, Trujillo C, van der Klift H, Muñoz J, Balaguer F, Ocaña T, Madrigal I, Jones AM, Echeverry MM, Velez A, Tomlinson I, Milà M, Wijnen J, Carvajal-Carmona L, Castells A, Castellví-Bel S. Alonso-Espinaco V, et al. Among authors: madrigal i. Genet Med. 2011 Feb;13(2):155-60. doi: 10.1097/GIM.0b013e318202e10b. Genet Med. 2011. PMID: 21233718 Free 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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