San Millán JL - Search Results

1

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

Peral B, Ward CJ, San Millán JL, Thomas S, Stallings RL, Moreno F, Harris PC. Peral B, et al. Among authors: san millan jl. Am J Hum Genet. 1994 May;54(5):899-908. Am J Hum Genet. 1994. PMID: 7909986 Free PMC article.

2

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.

Peral B, Gamble V, San Millán JL, Strong C, Sloane-Stanley J, Moreno F, Harris PC. Peral B, et al. Among authors: san millan jl. Hum Mol Genet. 1995 Apr;4(4):569-74. doi: 10.1093/hmg/4.4.569. Hum Mol Genet. 1995. PMID: 7633405

3

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL, Gamble V, Harris PC. Hughes J, et al. Among authors: san millan jl. Nat Genet. 1995 Jun;10(2):151-60. doi: 10.1038/ng0695-151. Nat Genet. 1995. PMID: 7663510

4

Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q.

Viribay M, Tellería D, Velasco E, Moreno F, San Millán JL. Viribay M, et al. Among authors: san millan jl. Hum Genet. 1995 May;95(5):601-2. doi: 10.1007/BF00223883. Hum Genet. 1995. PMID: 7759091

5

Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.

San Millán JL, Viribay M, Peral B, Martínez I, Weissenbach J, Moreno F. San Millán JL, et al. Am J Hum Genet. 1995 Jan;56(1):248-53. Am J Hum Genet. 1995. PMID: 7825585 Free PMC article.

6

Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population.

Peral B, San Millán JL, Hernández C, Valero A, Lathrop GM, Beckmann JS, Moreno F. Peral B, et al. Among authors: san millan jl. J Med Genet. 1993 Nov;30(11):910-3. doi: 10.1136/jmg.30.11.910. J Med Genet. 1993. PMID: 7905535 Free PMC article.

7

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

Peral B, San Millán JL, Ong AC, Gamble V, Ward CJ, Strong C, Harris PC. Peral B, et al. Among authors: san millan jl. Am J Hum Genet. 1996 Jan;58(1):86-96. Am J Hum Genet. 1996. PMID: 8554072 Free PMC article.

8

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

Peral B, Ong AC, San Millán JL, Gamble V, Rees L, Harris PC. Peral B, et al. Among authors: san millan jl. Hum Mol Genet. 1996 Apr;5(4):539-42. doi: 10.1093/hmg/5.4.539. Hum Mol Genet. 1996. PMID: 8845849

9

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.

Viribay M, Hayashi T, Tellería D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millán JL. Viribay M, et al. Among authors: san millan jl. Hum Genet. 1997 Dec;101(2):229-34. doi: 10.1007/s004390050621. Hum Genet. 1997. PMID: 9402976

10

The delta F508 mutation and RFLP-linked loci in Spanish cystic fibrosis families.

Peral B, Hernández-Chico C, San Millán JL, Granell R, Molano J, Carrasco S, Tellería JJ, Devoto M, Moreno F. Peral B, et al. Among authors: san millan jl. Hum Genet. 1991 Aug;87(4):516-7. doi: 10.1007/BF00197182. Hum Genet. 1991. PMID: 1715312 No abstract available.

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