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Mapping translocation breakpoints by next-generation sequencing.
Genome Res. 2008 Jul;18(7):1143-9. doi: 10.1101/gr.076166.108. Epub 2008 Mar 7.
Genome Res. 2008.
PMID: 18326688
Free PMC article.
The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population.
Gutierrez S, Magano L, Delicado A, Mori MA, de Torres ML, Fernández L, Palomares M, Fernández E, Tarduchy GR, Molano J, Gracia R, Pajares IL, Lapunzina P.
Gutierrez S, et al. Among authors: pajares il.
Am J Med Genet A. 2006 Dec 15;140(24):2832-3. doi: 10.1002/ajmg.a.31532.
Am J Med Genet A. 2006.
PMID: 17103452
No abstract available.
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Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.
Lapunzina P, Gairí A, Delicado A, Mori MA, Torres ML, Goma A, Navia M, Pajares IL.
Lapunzina P, et al. Among authors: pajares il.
Am J Med Genet A. 2004 Sep 15;130A(1):45-51. doi: 10.1002/ajmg.a.30235.
Am J Med Genet A. 2004.
PMID: 15368495
Review.
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Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome.
Fernández L, Lapunzina P, Pajares IL, Criado GR, García-Guereta L, Pérez J, Quero J, Delicado A.
Fernández L, et al. Among authors: pajares il.
Am J Med Genet A. 2005 Jul 1;136(1):71-5. doi: 10.1002/ajmg.a.30756.
Am J Med Genet A. 2005.
PMID: 15889418
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Mietens-Weber syndrome: two new patients and a review.
Martínez-Glez V, Lapunzina P, Delicado A, Tendero A, Mori MÁ, de Torres ML, Fernández L, Palomares M, Pajares IL.
Martínez-Glez V, et al. Among authors: pajares il.
Clin Dysmorphol. 2006 Jul;15(3):175-177. doi: 10.1097/01.mcd.0000204985.54366.a7.
Clin Dysmorphol. 2006.
PMID: 16760739
Review.
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Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.
Fernández L, Lapunzina P, Pajares IL, Palomares M, Martínez I, Fernández B, Quero J, García-Guereta L, García-Alix A, Burgueros M, Galán-Gómez E, Carbonell-Pérez JM, Pérez-Granero A, Torres-Juan L, Heine-Suñer D, Rosell J, Delicado A.
Fernández L, et al. Among authors: pajares il.
Am J Med Genet A. 2008 May 1;146A(9):1134-41. doi: 10.1002/ajmg.a.32256.
Am J Med Genet A. 2008.
PMID: 18384142
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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P.
Fernández L, et al. Among authors: pajares il.
BMC Med Genet. 2009 Jun 2;10:48. doi: 10.1186/1471-2350-10-48.
BMC Med Genet. 2009.
PMID: 19490635
Free PMC article.
Review.
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Familial translocation t(10;21)(q22;q22).
Delicado A, Pajares IL, Vicente P, Hawkins F.
Delicado A, et al. Among authors: pajares il.
Hum Genet. 1979 Sep;50(3):253-8. doi: 10.1007/BF00399390.
Hum Genet. 1979.
PMID: 489009
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