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Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.
Lorda-Sanchez I, Ayuso C, Ibañez A. Lorda-Sanchez I, et al. Am J Med Genet. 2000 Jan 3;90(1):80-1. doi: 10.1002/(sici)1096-8628(20000103)90:1<80::aid-ajmg14>3.0.co;2-e. Am J Med Genet. 2000. PMID: 10602122 No abstract available.
Does Bardet-Biedl syndrome have a characteristic face?
Lorda-Sanchez I, Ayuso C, Sanz R, Ibañez A. Lorda-Sanchez I, et al. J Med Genet. 2001 May;38(5):E14. doi: 10.1136/jmg.38.5.e14. J Med Genet. 2001. PMID: 11333870 Free PMC article. No abstract available.
Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.
Lorda-Sanchez I, Lopez-Pajares I, Roche MC, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C. Lorda-Sanchez I, et al. Am J Med Genet. 2000 Dec 11;95(4):336-8. Am J Med Genet. 2000. PMID: 11186887
We report on a girl with minor anomalies and developmental delay carrying an apparently balanced paracentric inversion of chromosome 6q (q22qter). Fluorescent in situ hybridization analysis demonstrated a deletion of the subtelomeric region of 6q. This illustrates t …
We report on a girl with minor anomalies and developmental delay carrying an apparently balanced paracentric inversion of chromosome …
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.
Trujillo MJ, Garcia-Sandoval B, Lorda-Sanchez I, Gimenez A, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C. Trujillo MJ, et al. Ophthalmic Genet. 2000 Dec;21(4):251-6. Ophthalmic Genet. 2000. PMID: 11135497
A Spanish family affected with autosomal dominant retinitis pigmentosa (ADRP) with a diffuse phenotype showed a mutation in the rhodopsin gene. ...This change replaces a serine by a proline in the second intradiscal loop of the protein, generati
A Spanish family affected with autosomal dominant retinitis pigmentosa (ADRP) with a diffuse phenotype showed a mutatio
First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.
Trujillo MJ, Sanz R, Rodriguez de Alba M, Lorda I, Ramos C, Ibañez A, García-Sandoval B, Ayuso C. Trujillo MJ, et al. Hum Mutat. 1998;12(3):213. Hum Mutat. 1998. PMID: 10651486
A study of choroideremia gene was performed in Spanish families affected with this disorder. One abnormal pattern was detected in exon eight corresponding to a new mutation not described before. The mutation was identified as a nonsense mutation S340X....
A study of choroideremia gene was performed in Spanish families affected with this disorder. One abnormal pattern was detected in exo
Concurrent positive association between pathological gambling and functional DNA polymorphisms at the MAO-A and the 5-HT transporter genes.
Pérez de Castro I, Ibáñez A, Saiz-Ruiz J, Fernández-Piqueras J. Pérez de Castro I, et al. Mol Psychiatry. 2002;7(9):927-8. doi: 10.1038/sj.mp.4001148. Mol Psychiatry. 2002. PMID: 12399942 No abstract available.
Genetic association study between pathological gambling and a functional DNA polymorphism at the D4 receptor gene.
Pérez de Castro I, Ibáñez A, Torres P, Sáiz-Ruiz J, Fernández-Piqueras J. Pérez de Castro I, et al. Pharmacogenetics. 1997 Oct;7(5):345-8. Pharmacogenetics. 1997. PMID: 9352568
A Spanish sample consisting of 68 Caucasian pathological gambling patients (47 males and 21 females) and 68 unaffected controls were screened by the molecular analysis of a functional DNA polymorphism in the locus for the D4 dopamine receptor gene. Our results are c
A Spanish sample consisting of 68 Caucasian pathological gambling patients (47 males and 21 females) and 68 unaffected controls were
Mutational analysis of Phe160 within the "palm" subdomain of human immunodeficiency virus type 1 reverse transcriptase.
Gutiérrez-Rivas M, Ibáñez A, Martínez MA, Domingo E, Menéndez-Arias L. Gutiérrez-Rivas M, et al. J Mol Biol. 1999 Jul 16;290(3):615-25. doi: 10.1006/jmbi.1999.2880. J Mol Biol. 1999. PMID: 10395818
The highly conserved Phe160 residue is located in the "palm" subdomain of human immunodeficiency virus type 1 (HIV-1) reverse transcriptase (RT), and makes contact with Tyr115, a residue which is involved in deoxynucleoside triphosphate (dNTP) binding and fidelity of DNA s …
The highly conserved Phe160 residue is located in the "palm" subdomain of human immunodeficiency virus type 1 (HIV-1) reverse transcriptase …
Pathological gambling and DNA polymorphic markers at MAO-A and MAO-B genes.
Ibañez A, Perez de Castro I, Fernandez-Piqueras J, Blanco C, Saiz-Ruiz J. Ibañez A, et al. Mol Psychiatry. 2000 Jan;5(1):105-9. doi: 10.1038/sj.mp.4000654. Mol Psychiatry. 2000. PMID: 10673777

However there was a significant association between allele distribution and the subgroup of severe male gamblers (n = 31) compared to the males in the group of healthy volunteers (chi2 = 5246; df = 1; P < 0.05 [Bonferroni corrected]). ...Allele variants at the MAOA, but

However there was a significant association between allele distribution and the subgroup of severe male gamblers (n = 31) compared to …
Genetic contribution to pathological gambling: possible association between a functional DNA polymorphism at the serotonin transporter gene (5-HTT) and affected men.
Pérez de Castro I, Ibáñez A, Saiz-Ruiz J, Fernández-Piqueras J. Pérez de Castro I, et al. Pharmacogenetics. 1999 Jun;9(3):397-400. Pharmacogenetics. 1999. PMID: 10471073 No abstract available.
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