Estivill X - Search Results

1

High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X. Gasparini P, et al. Among authors: estivill x. Eur J Hum Genet. 2000 Jan;8(1):19-23. doi: 10.1038/sj.ejhg.5200406. Eur J Hum Genet. 2000. PMID: 10713883

2

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, Fortina P. Gasparini P, et al. Among authors: estivill x. Eur J Hum Genet. 1997 Mar-Apr;5(2):83-8. Eur J Hum Genet. 1997. PMID: 9195157

3

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Zelante L, et al. Among authors: estivill x. Hum Mol Genet. 1997 Sep;6(9):1605-9. doi: 10.1093/hmg/6.9.1605. Hum Mol Genet. 1997. PMID: 9285800

4

Vestibular and hearing loss in genetic and metabolic disorders.

Gasparini P, Estivill X, Fortina P. Gasparini P, et al. Among authors: estivill x. Curr Opin Neurol. 1999 Feb;12(1):35-9. doi: 10.1097/00019052-199902000-00006. Curr Opin Neurol. 1999. PMID: 10097882 Review.

5

Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene.

Rabionet R, Estivill X. Rabionet R, et al. Among authors: estivill x. J Med Genet. 1999 Mar;36(3):260-1. J Med Genet. 1999. PMID: 10204859 Free PMC article.

6

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés ML, Gasparini P, Estivill X. Rabionet R, et al. Among authors: estivill x. Hum Genet. 2000 Jan;106(1):40-4. doi: 10.1007/s004390051007. Hum Genet. 2000. PMID: 10982180

7

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.

Bisceglia L, Calonge MJ, Dello Strologo L, Rizzoni G, de Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V. Bisceglia L, et al. Among authors: estivill x. Hum Genet. 1996 Oct;98(4):447-51. doi: 10.1007/s004390050237. Hum Genet. 1996. PMID: 8792820

8

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

Bisceglia L, Calonge MJ, Totaro A, Feliubadaló L, Melchionda S, García J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacín M. Bisceglia L, et al. Among authors: estivill x. Am J Hum Genet. 1997 Mar;60(3):611-6. Am J Hum Genet. 1997. PMID: 9042921 Free PMC article.

9

Connexin-26 mutations in sporadic and inherited sensorineural deafness.

Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P. Estivill X, et al. Lancet. 1998 Feb 7;351(9100):394-8. doi: 10.1016/S0140-6736(97)11124-2. Lancet. 1998. PMID: 9482292 Free article.

10

High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness.

Antoniadi T, Rabionet R, Kroupis C, Aperis GA, Economides J, Petmezakis J, Economou-Petersen E, Estivill X, Petersen MB. Antoniadi T, et al. Among authors: estivill x. Clin Genet. 1999 May;55(5):381-2. Clin Genet. 1999. PMID: 10422812 No abstract available.

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