Estivill X - Search Results

1

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.

Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X. Ballana E, et al. Among authors: estivill x. Hum Mutat. 2008 Feb;29(2):248-57. doi: 10.1002/humu.20639. Hum Mutat. 2008. PMID: 17999439

2

A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

González JR, Wang W, Ballana E, Estivill X. González JR, et al. Among authors: estivill x. Hum Mutat. 2006 Nov;27(11):1135-42. doi: 10.1002/humu.20390. Hum Mutat. 2006. PMID: 16941638 Free PMC article.

3

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

Ballana E, Mercader JM, Fischel-Ghodsian N, Estivill X. Ballana E, et al. Among authors: estivill x. BMC Med Genet. 2007 Dec 21;8:81. doi: 10.1186/1471-2350-8-81. BMC Med Genet. 2007. PMID: 18154640 Free PMC article.

4

Missense mutations in the cystic fibrosis gene in adult patients with asthma.

Lázaro C, de Cid R, Sunyer J, Soriano J, Giménez J, Alvarez M, Casals T, Antó JM, Estivill X. Lázaro C, et al. Among authors: estivill x. Hum Mutat. 1999;14(6):510-9. doi: 10.1002/(SICI)1098-1004(199912)14:6<510::AID-HUMU10>3.0.CO;2-O. Hum Mutat. 1999. PMID: 10571949

5

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

López-Bigas N, Rabionet R, de Cid R, Govea N, Gasparini P, Zelante L, Arbonés ML, Estivill X. López-Bigas N, et al. Among authors: estivill x. Hum Mutat. 1999;14(6):520-6. doi: 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10571950

6

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X. López-Bigas N, et al. Among authors: estivill x. Hum Mutat. 2001 Dec;18(6):548. doi: 10.1002/humu.1238. Hum Mutat. 2001. Corrected and republished in: Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9043 PMID: 11748854 Corrected and republished.

7

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X. López-Bigas N, et al. Among authors: estivill x. Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9043. Hum Mutat. 2002. PMID: 12112665

8

Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.

Ballana E, González JR, Bosch N, Estivill X. Ballana E, et al. Among authors: estivill x. BMC Genomics. 2007 Jan 10;8:14. doi: 10.1186/1471-2164-8-14. BMC Genomics. 2007. PMID: 17214878 Free PMC article.

9

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.

Bosch N, Cáceres M, Cardone MF, Carreras A, Ballana E, Rocchi M, Armengol L, Estivill X. Bosch N, et al. Among authors: estivill x. Hum Mol Genet. 2007 Nov 1;16(21):2572-82. doi: 10.1093/hmg/ddm209. Epub 2007 Aug 7. Hum Mol Genet. 2007. PMID: 17684299

10

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lázaro C, Estivill X. Ars E, et al. Among authors: estivill x. Am J Hum Genet. 1998 Apr;62(4):834-41. doi: 10.1086/301803. Am J Hum Genet. 1998. PMID: 9529361 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

717 results

Search Page

Filters