Ferrer-Bolufer I - Search Results

1

Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

Roselló M, Ferrer-Bolufer I, Monfort S, Oltra S, Quiroga R, Martínez F, Gonzalvo M, Benac A, Perales A, Orellana C. Roselló M, et al. Among authors: ferrer bolufer i. Eur J Med Genet. 2010 Mar-Apr;53(2):76-9. doi: 10.1016/j.ejmg.2009.12.003. Epub 2009 Dec 29. Eur J Med Genet. 2010. PMID: 20004752

2

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez F. Ferrer-Bolufer I, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S349-53. doi: 10.1007/s10545-009-9014-9. Epub 2009 Dec 23. J Inherit Metab Dis. 2009. PMID: 20033293 Review.

3

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

Roselló M, Monfort S, Orellana C, Ferrer-Bolufer I, Quiroga R, Oltra S, Martínez F. Roselló M, et al. Among authors: ferrer bolufer i. Cytogenet Genome Res. 2009;125(2):103-8. doi: 10.1159/000227833. Epub 2009 Aug 31. Cytogenet Genome Res. 2009. PMID: 19729912

4

Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.

Quiroga R, Roselló M, Martinez F, Ferrer-Bolufer I, Monfort S, Oltra S, Hernandez MC, Orellana C. Quiroga R, et al. Among authors: ferrer bolufer i. Reprod Biomed Online. 2009 Sep;19(3):415-7. doi: 10.1016/s1472-6483(10)60177-0. Reprod Biomed Online. 2009. PMID: 19778489

5

Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report.

Quiroga R, Monfort S, Oltra S, Ferrer-Bolufer I, Roselló M, Mayo S, Martinez F, Orellana C. Quiroga R, et al. Among authors: ferrer bolufer i. Cytogenet Genome Res. 2011;133(1):78-83. doi: 10.1159/000322719. Epub 2011 Jan 13. Cytogenet Genome Res. 2011. PMID: 21228546

6

[ARX mutations and mental retardation of unknown etiology: three new cases in Spain].

Romero-Rubio MT, Andrés-Celma M, Castelló-Pomares ML, Roselló M, Ferrer-Bolufer I, Martínez-Castellano F. Romero-Rubio MT, et al. Among authors: ferrer bolufer i. Rev Neurol. 2008 Dec 16-31;47(12):634-7. Rev Neurol. 2008. PMID: 19085879 Free article. Spanish.

7

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.

Rodríguez-López R, Gimeno-Ferrer F, Montesinos E, Ferrer-Bolufer I, Luján CG, Albuquerque D, Cataluña CM, Ballesteros V, Pérez-Gramunt MA. Rodríguez-López R, et al. Among authors: ferrer bolufer i. Genes (Basel). 2021 Jul 31;12(8):1197. doi: 10.3390/genes12081197. Genes (Basel). 2021. PMID: 34440371 Free PMC article.

8

Diversity of oncopharmacogenetic profile within Spanish population.

Ferrer Bolufer I, Galiana Vallés X, Izquierdo Álvarez S, Serrano Mira A, Guzmán Luján C, Safont Aguilera MJ, González Tarancón R, Bolaños Naranjo M, Carrasco Salas P, Santamaría González M, Rodríguez-López R. Ferrer Bolufer I, et al. Pharmacogenet Genomics. 2024 Jul 1;34(5):166-169. doi: 10.1097/FPC.0000000000000530. Epub 2024 Mar 18. Pharmacogenet Genomics. 2024. PMID: 38488402

9

Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.

Rodríguez-López R, Gimeno-Ferrer F, do Santos DA, Ferrer-Bolufer I, Luján CG, Alcalá OZ, García-Banacloy A, Cogollos VB, Juan CS. Rodríguez-López R, et al. Among authors: ferrer bolufer i. Curr Genomics. 2022 Jul 5;23(3):147-162. doi: 10.2174/1389202923666220426093436. Curr Genomics. 2022. PMID: 36777005 Free PMC article. Review.

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