López Pajares I - Search Results

1

Direct tandem duplication in chromosome 19q characterized by array CGH.

Palomares Bralo M, Delicado A, Lapunzina P, Velázquez Fragua R, Villa O, Angeles Mori M, Luisa de Torres M, Fernández L, Pérez Jurado LA, López Pajares I. Palomares Bralo M, et al. Among authors: lopez pajares i. Eur J Med Genet. 2008 May-Jun;51(3):257-63. doi: 10.1016/j.ejmg.2008.01.003. Epub 2008 Feb 2. Eur J Med Genet. 2008. PMID: 18342596

2

Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.

Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I. Delicado A, et al. Among authors: lopez pajares i. Eur J Med Genet. 2005 Apr-Jun;48(2):159-66. doi: 10.1016/j.ejmg.2005.01.017. Epub 2005 Mar 2. Eur J Med Genet. 2005. PMID: 16053907

3

A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings.

Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, Herrero F, Valverde E, López-Pajares I. Mori MA, et al. Among authors: lopez pajares i. Am J Med Genet A. 2004 May 15;127A(1):69-73. doi: 10.1002/ajmg.a.20622. Am J Med Genet A. 2004. PMID: 15103721

4

A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).

Delicado A, Escribano E, Lopez Pajares I, Diaz de Bustamante A, Carrasco S. Delicado A, et al. Among authors: lopez pajares i. J Med Genet. 1991 Feb;28(2):126-7. doi: 10.1136/jmg.28.2.126. J Med Genet. 1991. PMID: 2002483 Free PMC article.

5

De novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

López-Pajares I, Martin-Ancel A, Cabello P, Delicado A, Garcia-Alix A, San Roman C. López-Pajares I, et al. Clin Genet. 1993 Feb;43(2):94-7. doi: 10.1111/j.1399-0004.1993.tb04457.x. Clin Genet. 1993. PMID: 8448910

6

Tetrasomy 8p: discordance of amniotic fluid and blood karyotypes.

López-Pajares I, Delicado A, Lapunzina P, Mori MA, De Torres ML, Aso S, Garcia Sanchez P. López-Pajares I, et al. Am J Med Genet A. 2003 May 1;118A(4):353-7. doi: 10.1002/ajmg.a.10988. Am J Med Genet A. 2003. PMID: 12687667

7

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

Fernández L, Lapunzina P, Arjona D, López Pajares I, García-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, García-Alix A, Delicado A. Fernández L, et al. Among authors: lopez pajares i. Clin Genet. 2005 Oct;68(4):373-8. doi: 10.1111/j.1399-0004.2005.00493.x. Clin Genet. 2005. PMID: 16143025

8

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.

Palomares M, Delicado A, Lapunzina P, Arjona D, Amiñoso C, Arcas J, Martinez Bermejo A, Fernández L, López Pajares I. Palomares M, et al. Among authors: lopez pajares i. Clin Genet. 2006 Mar;69(3):228-33. doi: 10.1111/j.1399-0004.2006.00567.x. Clin Genet. 2006. PMID: 16542387

9

Euchromatic variant 16p+. Implications in prenatal diagnosis.

López Pajares I, Villa O, Salido M, Mori MA, Gonzalez A, Lapunzina P, De Torres ML, Vallcorba I, Palomares M, Fernández L, Delicado A. López Pajares I, et al. Prenat Diagn. 2006 Jun;26(6):535-8. doi: 10.1002/pd.1454. Prenat Diagn. 2006. PMID: 16634122

10

Tetraploidy in a liveborn infant.

López Pajares I, Delicado A, Diaz de Bustamante A, Pellicer A, Pinel I, Pardo M, Martin M. López Pajares I, et al. J Med Genet. 1990 Dec;27(12):782-3. doi: 10.1136/jmg.27.12.782. J Med Genet. 1990. PMID: 2074564 Free PMC article. Review.

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