Guitart M - Search Results

1

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.

Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B. Buiting K, et al. Among authors: guitart m. Hum Mol Genet. 1994 Jun;3(6):893-5. doi: 10.1093/hmg/3.6.893. Hum Mol Genet. 1994. PMID: 7951232

2

[Diagnosis and treatment of the phobia due to treatment with air using nasal continuous pressure].

Casas I, de la Calzada MD, Guitart M, Roca A. Casas I, et al. Among authors: guitart m. Rev Neurol. 2000 Mar 16-31;30(6):593-6. Rev Neurol. 2000. PMID: 10863736 Spanish.

3

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N, Trujillo-Quintero JP, Manso C, Gabau E, Capdevila N, Martinez-Glez V, Berenguer-Llergo A, Reyes S, Brunet A, Baena N, Guitart M, Ruiz A. Spataro N, et al. Among authors: guitart m. Genes (Basel). 2023 Mar 13;14(3):708. doi: 10.3390/genes14030708. Genes (Basel). 2023. PMID: 36980980 Free PMC article.

4

Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.

García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group; Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A. García-Redondo A, et al. Among authors: guitart m. Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22936364

5

[Accidents prevalence in a group of patients with the narcolepsy- cataplexy syndrome].

León-Muñoz L, de la Calzada MD, Guitart M. León-Muñoz L, et al. Among authors: guitart m. Rev Neurol. 2000 Mar 16-31;30(6):596-8. Rev Neurol. 2000. PMID: 10863737 Spanish.

6

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP. Mitchell J, et al. Among authors: guitart m. Am J Med Genet. 1996 Oct 16;65(2):133-6. doi: 10.1002/(SICI)1096-8628(19961016)65:2<133::AID-AJMG10>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8911605

7

Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.

Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martínez MJ, Poyatos D, Guitart M. Camprubí C, et al. Among authors: guitart m. Eur J Med Genet. 2007 Jan-Feb;50(1):11-20. doi: 10.1016/j.ejmg.2006.10.001. Epub 2006 Oct 10. Eur J Med Genet. 2007. PMID: 17095305

8

Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei.

Colls P, Blanco J, Martínez-Pasarell O, Vidal F, Egozcue J, Márquez C, Guitart M, Templado C. Colls P, et al. Among authors: guitart m. Hum Genet. 1997 Jun;99(6):761-5. doi: 10.1007/s004390050444. Hum Genet. 1997. PMID: 9187669

9

Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin.

Blanco J, Gabau E, Gómez D, Baena N, Guitart M, Egozcue J, Vidal F. Blanco J, et al. Among authors: guitart m. Am J Hum Genet. 1998 Oct;63(4):1067-72. doi: 10.1086/302058. Am J Hum Genet. 1998. PMID: 9758616 Free PMC article.

10

[Prader Willi syndrome patients: study of 77 patients].

Poyatos D, Camprubí C, Gabau E, Nosas R, Villatoro S, Coll MD, Guitart M. Poyatos D, et al. Among authors: guitart m. Med Clin (Barc). 2009 Nov 7;133(17):649-56. doi: 10.1016/j.medcli.2009.04.051. Epub 2009 Sep 13. Med Clin (Barc). 2009. PMID: 19748638 Spanish.

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