Pàmpols T - Search Results

1

De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.

Barceló A, Girós M, Sarde CO, Pintos G, Mandel JL, Pàmpols T, Estivill X. Barceló A, et al. Among authors: pampols t. Hum Genet. 1995 Feb;95(2):235-7. doi: 10.1007/BF00209412. Hum Genet. 1995. PMID: 7860075

2

X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds.

Ruiz M, Coll MJ, Pàmpols T, Girós M. Ruiz M, et al. Among authors: pampols t. Am J Med Genet. 1998 Apr 13;76(5):424-7. doi: 10.1002/(sici)1096-8628(19980413)76:5<424::aid-ajmg11>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556303

3

Identification of a new frameshift mutation (1801delAG) in the ALD gene.

Barceló A, Girós M, Sarde CO, Martínez-Bermejo A, Mandel JL, Pàmpols T, Estivill X. Barceló A, et al. Among authors: pampols t. Hum Mol Genet. 1994 Oct;3(10):1889-90. doi: 10.1093/hmg/3.10.1889. Hum Mol Genet. 1994. PMID: 7849718 No abstract available.

4

Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene.

Barceló A, Girós M, Albiach VJ, Vaquerizo J, Pàmpols T, Estivill X. Barceló A, et al. Among authors: pampols t. Hum Mutat. 1996;8(3):286-7. doi: 10.1002/(SICI)1098-1004(1996)8:3<286::AID-HUMU17>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8889593 No abstract available.

5

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.

Pujol A, Ferrer I, Camps C, Metzger E, Hindelang C, Callizot N, Ruiz M, Pàmpols T, Giròs M, Mandel JL. Pujol A, et al. Among authors: pampols t. Hum Mol Genet. 2004 Dec 1;13(23):2997-3006. doi: 10.1093/hmg/ddh323. Epub 2004 Oct 15. Hum Mol Genet. 2004. PMID: 15489218

6

ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy.

Ruiz M, Coll MJ, Pampols T, Girós M. Ruiz M, et al. Among authors: pampols t. Prenat Diagn. 1997 Jul;17(7):651-6. Prenat Diagn. 1997. PMID: 9249866

7

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

Coll MJ, Palau N, Camps C, Ruiz M, Pàmpols T, Girós M. Coll MJ, et al. Among authors: pampols t. Clin Genet. 2005 May;67(5):418-24. doi: 10.1111/j.1399-0004.2005.00423.x. Clin Genet. 2005. PMID: 15811009

8

Glycerol trioleate/glycerol trierucate therapy in X-linked adrenoleukodystrophy: saturated and unsaturated fatty acids in blood cells. Implications for the follow-up.

Ruiz M, Pampols T, Girós M. Ruiz M, et al. Among authors: pampols t. J Inherit Metab Dis. 1996;19(2):188-92. doi: 10.1007/BF01799426. J Inherit Metab Dis. 1996. PMID: 8739962 No abstract available.

9

[The diagnosis of peroxisomal disorders in Spain during the period 1987-1997].

Girós M, Ruiz M, Ribes A, Pàmpols T. Girós M, et al. Among authors: pampols t. Rev Neurol. 1999 Jan;28 Suppl 1:S40-4. Rev Neurol. 1999. PMID: 10778487 Spanish.

10

Diagnosis of X-adrenoleucodystrophy phenotypic variants.

Coria F, García-Viejo MA, Delgado JA, Duarte J, Clavería LE, Girós M, Pampols T. Coria F, et al. Among authors: pampols t. Acta Neurol Scand. 1993 Jun;87(6):499-502. doi: 10.1111/j.1600-0404.1993.tb04144.x. Acta Neurol Scand. 1993. PMID: 8356882

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