Tizzano EF - Search Results

1

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M. Niceta M, et al. Among authors: tizzano ef. Clin Genet. 2020 Feb;97(2):362-369. doi: 10.1111/cge.13651. Epub 2019 Nov 3. Clin Genet. 2020. PMID: 31600839

2

Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.

Tizzano EF, Christie-Brown V, Baranello G, Germanenko O, Gray A, Krstic M, Lilien C, Patel H, Servais L, Scoto M. Tizzano EF, et al. J Neuromuscul Dis. 2022;9(6):809-820. doi: 10.3233/JND-221538. J Neuromuscul Dis. 2022. PMID: 36314215

3

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.

4

[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].

Castells-Sarret N, Cueto-González AM, Borregan M, López-Grondona F, Miró R, Tizzano E, Plaja A. Castells-Sarret N, et al. An Pediatr (Engl Ed). 2018 Jul;89(1):3-11. doi: 10.1016/j.anpedi.2017.07.011. Epub 2017 Sep 27. An Pediatr (Engl Ed). 2018. PMID: 28958749 Free article. Spanish.

5

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

6

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.

7

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.

8

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567

9

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

Cueto-González AM, Fernández-Cancio M, Fernández-Alvarez P, García-Arumí E, Tizzano EF. Cueto-González AM, et al. Among authors: tizzano ef. Hum Genome Var. 2020 Jun 8;7:20. doi: 10.1038/s41439-020-0105-3. eCollection 2020. Hum Genome Var. 2020. PMID: 32549991 Free PMC article.

10

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

Valenzuela I, Codina M, Fernández-Álvarez P, Mur P, Valle L, Tizzano EF, Cuscó I. Valenzuela I, et al. Among authors: tizzano ef. Am J Med Genet A. 2020 Nov;182(11):2742-2745. doi: 10.1002/ajmg.a.61839. Epub 2020 Sep 8. Am J Med Genet A. 2020. PMID: 32896090

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

172 results

Search Page

Filters