Guitart M - Search Results

1

Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21.

Ballesta F, Queralt R, Gómez D, Solsona E, Guitart M, Ezquerra M, Moreno J, Oliva R. Ballesta F, et al. Among authors: guitart m. Ann Genet. 1999;42(1):11-5. Ann Genet. 1999. PMID: 10214502

2

Apolipoprotein E epsilon 4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers.

Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, Guitart M, Egozcue J, Ascaso C, Oliva R. Ezquerra M, et al. Among authors: guitart m. Neurosci Lett. 1998 May 22;248(1):1-4. doi: 10.1016/s0304-3940(98)00251-1. Neurosci Lett. 1998. PMID: 9665649

3

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.

4

Origin of trisomy 21 in Down syndrome cases from a Spanish population registry.

Gómez D, Solsona E, Guitart M, Baena N, Gabau E, Egozcue J, Caballín MR. Gómez D, et al. Among authors: guitart m. Ann Genet. 2000 Jan-Mar;43(1):23-8. doi: 10.1016/s0003-3995(00)00017-4. Ann Genet. 2000. PMID: 10818217

5

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

6

Fetal and placenta chromosome constitution in 237 pregnancy losses.

Baena N, Guitart M, Ferreres JC, Gabau E, Corona M, Mellado F, Egozcue J, Caballín MR. Baena N, et al. Among authors: guitart m. Ann Genet. 2001 Apr-Jun;44(2):83-8. doi: 10.1016/s0003-3995(01)01042-5. Ann Genet. 2001. PMID: 11522246

7

From spermatocytes to sperm: meiotic behaviour of human male reciprocal translocations.

Oliver-Bonet M, Navarro J, Codina-Pascual M, Abad C, Guitart M, Egozcue J, Benet J. Oliver-Bonet M, et al. Among authors: guitart m. Hum Reprod. 2004 Nov;19(11):2515-22. doi: 10.1093/humrep/deh492. Epub 2004 Aug 27. Hum Reprod. 2004. PMID: 15333594

8

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

9

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: guitart m. 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

10

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Baena N, Monk D, Aguilera C, Fraga MF, Fernández AF, Gabau E, Corripio R, Capdevila N, Trujillo JP, Ruiz A, Guitart M. Baena N, et al. Among authors: guitart m. Clin Epigenetics. 2024 May 7;16(1):62. doi: 10.1186/s13148-024-01652-8. Clin Epigenetics. 2024. PMID: 38715103 Free PMC article.

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