Lorda-Sanchez I - Search Results

1

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.

Martínez-Granero F, Martínez-Cayuelas E, Rodilla C, Núñez-Moreno G, Rodríguez de Alba M, Blanco-Kelly F, Romero R, Minguez P, Ayuso C, Lorda-Sanchez I, Corton M, Almoguera B. Martínez-Granero F, et al. Among authors: lorda sanchez i. Clin Genet. 2023 Apr;103(4):448-452. doi: 10.1111/cge.14306. Epub 2023 Feb 8. Clin Genet. 2023. PMID: 36719180

2

[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.

3

[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.

4

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA. Robinson WP, et al. Am J Hum Genet. 1995 Feb;56(2):444-51. Am J Hum Genet. 1995. PMID: 7847381 Free PMC article.

5

[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.

6

Uniparental origin of sex chromosome polysomies.

Lorda-Sanchez I, Binkert F, Hinkel KG, Moser H, Rosenkranz W, Maechler M, Schinzel A. Lorda-Sanchez I, et al. Hum Hered. 1992;42(3):193-7. doi: 10.1159/000154066. Hum Hered. 1992. PMID: 1512000

7

A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21.

Lorda-Sanchez I, Petersen MB, Binkert F, Maechler M, Schmid W, Adelsberger PA, Antonarakis SE, Schinzel A. Lorda-Sanchez I, et al. Hum Genet. 1991 May;87(1):54-6. doi: 10.1007/BF01213092. Hum Genet. 1991. PMID: 1674717

8

Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.

Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C. Lorda-Sanchez I, et al. Ophthalmic Genet. 1999 Jun;20(2):127-31. doi: 10.1076/opge.20.2.127.2289. Ophthalmic Genet. 1999. PMID: 10420199

9

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

10

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.

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