Toral JF - Search Results

1

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Dauwerse JG, et al. Among authors: toral jf. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131976

2

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T, Kosaki K. Udaka T, et al. Among authors: toral jf. Congenit Anom (Kyoto). 2005 Dec;45(4):125-31. doi: 10.1111/j.1741-4520.2005.00081.x. Congenit Anom (Kyoto). 2005. PMID: 16359492

3

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. 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.

4

Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.

Martínez-Frías ML, Toral JF, López-Grondona F, Mendioroz J, Bermejo E. Martínez-Frías ML, et al. Among authors: toral jf. Am J Med Genet A. 2005 Sep 1;137A(3):288-91. doi: 10.1002/ajmg.a.30875. Am J Med Genet A. 2005. PMID: 16088912

5

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.

Fickie MR, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE. Fickie MR, et al. Among authors: toral jf. Am J Med Genet A. 2011 Sep;155A(9):2105-11. doi: 10.1002/ajmg.a.34156. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834047 Review.

6

Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects.

Rodríguez L, Martínez-Fernández ML, Mansilla E, Mendioroz J, Arteaga RM, Toral JF, Guardia NM, García A, Centeno F, Pantoja J, Jovani C, Martínez-Frías ML. Rodríguez L, et al. Among authors: toral jf. Clin Dysmorphol. 2008 Jan;17(1):5-12. doi: 10.1097/MCD.0b013e3282efef43. Clin Dysmorphol. 2008. PMID: 18049073

7

High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.

Hermsen MA, Tijssen M, Acero IH, Meijer GA, Ylstra B, Toral JF. Hermsen MA, et al. Among authors: toral jf. Eur J Med Genet. 2005 Jul-Sep;48(3):310-8. doi: 10.1016/j.ejmg.2005.04.009. Eur J Med Genet. 2005. PMID: 16179226

8

Identification of copy-number variants in patients with overgrowth disorders.

Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142

9

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Parrini E, Rivas IL, Toral JF, Pucatti D, Giglio S, Mei D, Guerrini R. Parrini E, et al. Among authors: toral jf. Am J Med Genet A. 2011 May;155A(5):1140-6. doi: 10.1002/ajmg.a.33880. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484998

10

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Parra A, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, San-Martín EA, Silván C, Santos-Simarro F; Spanish OverGrowth Registry Initiative (SOGRI); Nevado J, Tenorio-Castano J, Lapunzina P. Parra A, et al. Clin Genet. 2024 Feb;105(2):140-149. doi: 10.1111/cge.14440. Epub 2023 Oct 30. Clin Genet. 2024. PMID: 37904618

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

14 results

Search Page

Filters