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The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population.
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.
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.
Rodríguez-Criado G, Magano L, Segovia M, Gurrieri F, Neri G, González-Meneses A, Gómez de Terreros I, Valdéz R, Gracia R, Lapunzina P.
Rodríguez-Criado G, et al. Among authors: magano l.
Am J Med Genet A. 2005 Oct 15;138A(3):272-7. doi: 10.1002/ajmg.a.30920.
Am J Med Genet A. 2005.
PMID: 16158429
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PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE.
Benito-Sanz S, et al. Among authors: magano lf.
Hum Mutat. 2006 Oct;27(10):1062. doi: 10.1002/humu.9456.
Hum Mutat. 2006.
PMID: 16941489
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Germinal mosaicism in Simpson-Golabi-Behmel syndrome.
Romanelli V, Arroyo I, Rodriguez JI, Magano L, Arias P, Incera I, Gracia-Bouthelier R, Lapunzina P.
Romanelli V, et al. Among authors: magano l.
Clin Genet. 2007 Oct;72(4):384-6. doi: 10.1111/j.1399-0004.2007.00871.x.
Clin Genet. 2007.
PMID: 17850639
No abstract available.
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Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA.
Antonell A, et al. Among authors: magano lf.
J Med Genet. 2010 May;47(5):312-20. doi: 10.1136/jmg.2009.071712. Epub 2009 Nov 5.
J Med Genet. 2010.
PMID: 19897463
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Mutational mechanisms of Williams-Beuren syndrome deletions.
Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA.
Bayés M, et al. Among authors: magano lf.
Am J Hum Genet. 2003 Jul;73(1):131-51. doi: 10.1086/376565. Epub 2003 Jun 9.
Am J Hum Genet. 2003.
PMID: 12796854
Free PMC article.
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Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA.
Del Campo M, et al. Among authors: magano lf.
Am J Hum Genet. 2006 Apr;78(4):533-42. doi: 10.1086/501073. Epub 2006 Jan 31.
Am J Hum Genet. 2006.
PMID: 16532385
Free PMC article.
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