Magano L - Search Results

1

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.

2

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

3

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: magano l. 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.

4

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

5

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

6

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.

7

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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