Rabionet R - Search Results

1

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. Bosio M, et al. Among authors: rabionet r. Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31026367 Free PMC article.

2

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

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

3

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: rabionet r. 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

4

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.

López-Bigas N, Rabionet R, Martínez E, Banchs I, Volpini V, Vance JM, Arbonés ML, Estivill X. López-Bigas N, et al. Among authors: rabionet r. Hum Mutat. 2000 May;15(5):481-2. doi: 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7. Hum Mutat. 2000. PMID: 10790215

5

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R, Gasparini P, Estivill X. Rabionet R, et al. Hum Mutat. 2000 Sep;16(3):190-202. doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I. Hum Mutat. 2000. PMID: 10980526 Review.

6

R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?

López-Bigas N, Rabionet R, Arbonés ML, Estivill X. López-Bigas N, et al. Among authors: rabionet r. Eur J Hum Genet. 2001 Jan;9(1):70. doi: 10.1038/sj.ejhg.5200569. Eur J Hum Genet. 2001. PMID: 11175305 No abstract available.

7

Connexin mutations in hearing loss, dermatological and neurological disorders.

Rabionet R, López-Bigas N, Arbonès ML, Estivill X. Rabionet R, et al. Trends Mol Med. 2002 May;8(5):205-12. doi: 10.1016/s1471-4914(02)02327-4. Trends Mol Med. 2002. PMID: 12067629 Review.

8

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Thönnissen E, Rabionet R, Arbonès ML, Estivill X, Willecke K, Ott T. Thönnissen E, et al. Among authors: rabionet r. Hum Genet. 2002 Aug;111(2):190-7. doi: 10.1007/s00439-002-0750-2. Epub 2002 Jun 22. Hum Genet. 2002. PMID: 12189493

9

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.

Ballana E, Morales E, Rabionet R, Montserrat B, Ventayol M, Bravo O, Gasparini P, Estivill X. Ballana E, et al. Among authors: rabionet r. Biochem Biophys Res Commun. 2006 Mar 24;341(4):950-7. doi: 10.1016/j.bbrc.2006.01.049. Epub 2006 Jan 24. Biochem Biophys Res Commun. 2006. PMID: 16458854

10

Human genetics branches out in Barcelona.

Rabionet R, Espinosa-Parrilla Y, Estivill X. Rabionet R, et al. Genome Biol. 2008;9(8):318. doi: 10.1186/gb-2008-9-8-318. Epub 2008 Aug 13. Genome Biol. 2008. PMID: 18710599 Free PMC article.

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