Lorda-Sánchez I - Search Results

1

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

2

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

3

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.

Lorda-Sánchez I, Urioste M, Villa A, Carrascosa MC, Vázquez MS, Martínez A, Martínez-Frías ML. Lorda-Sánchez I, et al. Am J Med Genet. 1997 Feb 11;68(4):476-80. doi: 10.1002/(sici)1096-8628(19970211)68:4<476::aid-ajmg21>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9021025 Review.

4

Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl.

Lorda-Sánchez I, Villa A, Urioste M, Bernal E, Jaso E, García A, Martínez-Frías ML. Lorda-Sánchez I, et al. Am J Med Genet. 1997 Feb 11;68(4):481-4. Am J Med Genet. 1997. PMID: 9021026 Review.

5

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

6

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, Ruiz-Barnes P, Rodriguez de Alba M, Diego-Alvarez D, Ramos C, Searby CC, Nishimura DY, Ayuso C. Martinez-Glez V, et al. Eur J Med Genet. 2007 Mar-Apr;50(2):120-7. doi: 10.1016/j.ejmg.2006.10.005. Epub 2006 Oct 28. Eur J Med Genet. 2007. PMID: 17157569

7

A small and active ring X chromosome in a female with features of Kabuki syndrome.

Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML. Rodríguez L, et al. Am J Med Genet A. 2008 Nov 1;146A(21):2816-21. doi: 10.1002/ajmg.a.32521. Am J Med Genet A. 2008. PMID: 18925662

8

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.

9

[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.

10

[Achondroplasia: molecular study of 28 patients].

Climent C, Lorda-Sánchez I, Urioste M, Gairi JM, Rodríguez JI, Rubio V. Climent C, et al. Med Clin (Barc). 1998 Apr 18;110(13):492-4. Med Clin (Barc). 1998. PMID: 9611730 Spanish.

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