Ferrer I - Search Results

1

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Orellana C, Bernabeu J, Monfort S, Rosello M, Oltra JS, Ferrer I, Quiroga R, Martinez-Garay I, Martinez F. Orellana C, et al. Among authors: ferrer i. BMJ Case Rep. 2009;2009:bcr08.2008.0665. doi: 10.1136/bcr.08.2008.0665. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686693 Free PMC article.

2

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Orellana C, Bernabeu J, Monfort S, Roselló M, Oltra S, Ferrer I, Quiroga R, Martínez-Garay I, Martínez F. Orellana C, et al. Among authors: ferrer i. BMJ Case Rep. 2009;2009:bcr06.2009.1996. doi: 10.1136/bcr.06.2009.1996. Epub 2009 Jul 5. BMJ Case Rep. 2009. PMID: 21731584 Free PMC article.

3

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F. Monfort S, et al. Among authors: ferrer i. J Med Genet. 2008 Jul;45(7):432-7. doi: 10.1136/jmg.2008.057596. Epub 2008 Apr 15. J Med Genet. 2008. PMID: 18413373

4

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

Orellana C, Roselló M, Monfort S, Oltra S, Quiroga R, Ferrer I, Martínez F. Orellana C, et al. Among authors: ferrer i. Cytogenet Genome Res. 2009;127(1):5-8. doi: 10.1159/000279261. Epub 2010 Jan 27. Cytogenet Genome Res. 2009. PMID: 20110648

5

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Orellana C, Bernabeu J, Monfort S, Roselló M, Oltra S, Ferrer I, Quiroga R, Martínez-Garay I, Martínez F. Orellana C, et al. Among authors: ferrer i. J Med Genet. 2008 Mar;45(3):187-9. doi: 10.1136/jmg.2007.054064. J Med Genet. 2008. PMID: 18310268 No abstract available.

6

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F. Camprubí C, et al. Among authors: ferrer i. Am J Med Genet A. 2009 Mar;149A(3):343-8. doi: 10.1002/ajmg.a.32659. Am J Med Genet A. 2009. PMID: 19213023

7

Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation.

Valcuende-Cavero F, Martinez F, Pérez-Pastor G, Oltra S, Ferrer I, Tomás-Cabedo G, Moreno-Presmanes M. Valcuende-Cavero F, et al. Among authors: ferrer i. J Eur Acad Dermatol Venereol. 2008 Dec;22(12):1508-10. doi: 10.1111/j.1468-3083.2008.02685.x. Epub 2008 Apr 1. J Eur Acad Dermatol Venereol. 2008. PMID: 18384562 No abstract available.

8

Altered resting-state functional connectivity in individuals at risk for Alzheimer's disease: a longitudinal study.

Chavarría-Elizondo P, Maturana-Quijada P, Martínez-Zalacaín I, Del Cerro I, Juaneda-Seguí A, Guinea-Izquierdo A, Gascón-Bayarri J, Reñé-Ramírez R, Urretavizcaya M, Ferrer I, Menchón JM, Soria V, Soriano-Mas C. Chavarría-Elizondo P, et al. Among authors: ferrer i. Int J Clin Health Psychol. 2025 Apr-Jun;25(2):100588. doi: 10.1016/j.ijchp.2025.100588. Epub 2025 Jun 4. Int J Clin Health Psychol. 2025. PMID: 40529837 Free PMC article.

9

Fate of Exogenous Selenium in the Soil-Plant System: Se Accumulation, Translocation, and Effects on Growth in Vegetable, Legume, and Cereal Species.

Li J, Huang J, Abril AMM, Otero-Gonzalez L, He S, Ferrer I, Lens PNL, Du Laing G. Li J, et al. Among authors: ferrer i. J Agric Food Chem. 2025 Jun 18;73(24):14901-14912. doi: 10.1021/acs.jafc.5c01878. Epub 2025 Jun 5. J Agric Food Chem. 2025. PMID: 40471551

10

Distinct tau filament folds in human MAPT mutants P301L and P301T.

Schweighauser M, Shi Y, Murzin AG, Garringer HJ, Vidal R, Murrell JR, Erro ME, Seelaar H, Ferrer I, van Swieten JC, Ghetti B, Scheres SHW, Goedert M. Schweighauser M, et al. Among authors: ferrer i. Nat Struct Mol Biol. 2025 May 29. doi: 10.1038/s41594-025-01575-9. Online ahead of print. Nat Struct Mol Biol. 2025. PMID: 40442318

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