Tizzano EF - Search Results

1

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Among authors: tizzano ef. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.

2

Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

Tejada MI, Mornet E, Tizzano E, Molina M, Baiget M, Boue A. Tejada MI, et al. J Med Genet. 1994 Jan;31(1):76-8. doi: 10.1136/jmg.31.1.76. J Med Genet. 1994. PMID: 8151646 Free PMC article.

3

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.

Also-Rallo E, Alías L, Martínez-Hernández R, Caselles L, Barceló MJ, Baiget M, Bernal S, Tizzano EF. Also-Rallo E, et al. Among authors: tizzano ef. Eur J Hum Genet. 2011 Oct;19(10):1059-65. doi: 10.1038/ejhg.2011.89. Epub 2011 May 25. Eur J Hum Genet. 2011. PMID: 21610752 Free PMC article.

4

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.

Alías L, Barceló MJ, Bernal S, Martínez-Hernández R, Also-Rallo E, Vázquez C, Santana A, Millán JM, Baiget M, Tizzano EF. Alías L, et al. Among authors: tizzano ef. Clin Genet. 2014 May;85(5):470-5. doi: 10.1111/cge.12222. Epub 2013 Jul 16. Clin Genet. 2014. PMID: 23799925

5

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R, Tizzano E. Plaja A, et al. Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18. Cytogenet Genome Res. 2015. PMID: 26382598

6

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Valenzuela I, Fernández-Alvarez P, Munell F, Sanchez-Montanez A, Giralt G, Vendrell T, Tizzano EF. Valenzuela I, et al. Among authors: tizzano ef. Eur J Med Genet. 2017 Jun;60(6):303-307. doi: 10.1016/j.ejmg.2017.03.010. Epub 2017 Mar 24. Eur J Med Genet. 2017. PMID: 28344185 Review.

7

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).

Valenzuela I, Fernández-Alvarez P, Plaja A, Ariceta G, Sabaté-Rotés A, García-Arumí E, Vendrell T, Tizzano E. Valenzuela I, et al. Eur J Med Genet. 2018 May;61(5):269-272. doi: 10.1016/j.ejmg.2018.01.001. Epub 2018 Jan 4. Eur J Med Genet. 2018. PMID: 29307792

8

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

Mates J, Mademont-Soler I, Del Olmo B, Ferrer-Costa C, Coll M, Pérez-Serra A, Picó F, Allegue C, Fernandez-Falgueras A, Álvarez P, Yotti R, Espinosa MA, Sarquella-Brugada G, Cesar S, Carro E, Brugada J, Arbelo E, Garcia-Pavia P, Borregan M, Tizzano E, López-Granados A, Mazuelos F, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Díaz-Flores F, Trujillo F, Iglesias A, Fernandez-Aviles F, Campuzano O, Brugada R. Mates J, et al. Eur J Hum Genet. 2018 Jul;26(7):1014-1025. doi: 10.1038/s41431-018-0119-1. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511324 Free PMC article.

9

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.

Alías L, Bernal S, Calucho M, Martínez E, March F, Gallano P, Fuentes-Prior P, Abuli A, Serra-Juhe C, Tizzano EF. Alías L, et al. Among authors: tizzano ef. Eur J Hum Genet. 2018 Oct;26(10):1554-1557. doi: 10.1038/s41431-018-0193-4. Epub 2018 Jun 14. Eur J Hum Genet. 2018. PMID: 29904179 Free PMC article.

10

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

Valenzuela I, Segura-Puimedon M, Rodríguez-Santiago B, Fernández-Alvarez P, Vendrell T, Armengol L, Tizzano E. Valenzuela I, et al. Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10. Eur J Med Genet. 2019. PMID: 30006058 Review.

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