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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.
Distal deletion of chromosome 13 in a child with the "opitz" GBBB syndrome.
Urioste M, Arroyo I, Villa A, Lorda-Sánchez I, Barrio R, López-Cuesta MJ, Rueda J. Urioste M, et al. Am J Med Genet. 1995 Oct 23;59(1):114-22. doi: 10.1002/ajmg.1320590123. Am J Med Genet. 1995. PMID: 8849002
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.
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Del Pozo-Valero M, Riveiro-Alvarez R, Blanco-Kelly F, Aguirre-Lamban J, Martin-Merida I, Iancu IF, Swafiri S, Lorda-Sanchez I, Rodriguez-Pinilla E, Trujillo-Tiebas MJ, Jimenez-Rolando B, Carreño E, Mahillo-Fernandez I, Rivolta C, Corton M, Avila-Fernandez A, Garcia-Sandoval B, Ayuso C. Del Pozo-Valero M, et al. Among authors: lorda sanchez i. Am J Ophthalmol. 2020 Jun 30;219:195-204. doi: 10.1016/j.ajo.2020.06.027. Online ahead of print. Am J Ophthalmol. 2020. PMID: 32619608
Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.
Schinzel A, Lorda-Sanchez I, Binkert F, Carter NP, Bebb CE, Ferguson-Smith MA, Eiholzer U, Zachmann M, Robinson WP. Schinzel A, et al. J Med Genet. 1995 Dec;32(12):957-61. doi: 10.1136/jmg.32.12.957. J Med Genet. 1995. PMID: 8825924 Free PMC article.
Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?
Urioste M, Lorda-Sánchez I, Blanco M, Burón E, Aparicio P, Martínez-Frías ML. Urioste M, et al. Hum Genet. 1996 Feb;97(2):214-7. doi: 10.1007/BF02265268. Hum Genet. 1996. PMID: 8566956
[Perinatal congenital hypophosphatasia: a report of 3 cases, its prevalence in Spain and reflexions on its mode of inheritance].
Lorda Sánchez I, Urioste Azcorra M, Martínez Santana S, Félix Rodriguez V, Ayala Garcés A, Martínez Frías ML. Lorda Sánchez I, et al. An Esp Pediatr. 1996 Jun;44(6):601-4. An Esp Pediatr. 1996. PMID: 8849110 Review. Spanish. No abstract available.
[Etiologic distribution of children with congenital defects].
Martínez Frías ML, Rodríguez Pinilla E, Bermejo Sánchez E, Urioste Azcorra M, Villa Milla A, Lorda Sánchez I, Frías JL. Martínez Frías ML, et al. An Esp Pediatr. 1996 Dec;45(6):635-8. An Esp Pediatr. 1996. PMID: 9133231 Spanish.
Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome.
Lorda-Sanchez I, Prieto L, Rodriguez-Pinilla E, Martinez-Frias ML. Lorda-Sanchez I, et al. Ann Hum Genet. 1998 May;62(Pt 3):235-9. doi: 10.1046/j.1469-1809.1998.6230235.x. Ann Hum Genet. 1998. PMID: 9803268
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.
Rodríguez de Alba M, Sanz R, Lorda-Sanchez I, Fernández-Moya JM, Ayuso C, Díaz-Recasens J, Ramos C. Rodríguez de Alba M, et al. Prenat Diagn. 1999 Sep;19(9):884-6. doi: 10.1002/(sici)1097-0223(199909)19:9<884::aid-pd655>3.0.co;2-w. Prenat Diagn. 1999. PMID: 10521852
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