Raquel Rabionet
Raquel Rabionet
Universitat de Barcelona i Hospital de Sant Joan de Déu
Dirección de correo verificada de ub.edu
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Connexin-26 mutations in sporadic and inherited sensorineural deafness
X Estivill, P Fortina, S Surrey, R Rabionet, S Melchionda, L D'Agruma, ...
The Lancet 351 (9100), 394-398, 1998
8021998
Analysis of shared heritability in common disorders of the brain
V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ...
Science 360 (6395), 2018
5392018
High carrier frequency of the 35delG deafness mutation in European populations
P Gasparini, R Rabionet, G Barbujani, S Melchionda, M Petersen, ...
European Journal of Human Genetics 8 (1), 19-23, 2000
5222000
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
A Grifa, CA Wagner, L D'Ambrosio, S Melchionda, F Bernardi, ...
Nature genetics 23 (1), 16-18, 1999
4521999
MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function
E Miñones-Moyano, S Porta, G Escaramís, R Rabionet, S Iraola, ...
Human molecular genetics 20 (15), 3067-3078, 2011
4062011
Genetic structure of Europeans: a view from the north–east
M Nelis, T Esko, R Mägi, F Zimprich, A Zimprich, D Toncheva, ...
PloS one 4 (5), e5472, 2009
3502009
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
R Malik, G Chauhan, M Traylor, M Sargurupremraj, Y Okada, A Mishra, ...
Nature genetics 50 (4), 524-537, 2018
3202018
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
R Rabionet, P Gasparini, X Estivill
Human mutation 16 (3), 190-202, 2000
2992000
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
R Rabionet, L Zelante, N López-Bigas, L D'Agruma, S Melchionda, ...
Human genetics 106 (1), 40-44, 2000
2722000
A genome-wide association study of anorexia nervosa
V Boraska, CS Franklin, JAB Floyd, LM Thornton, LM Huckins, L Southam, ...
Molecular psychiatry 19 (10), 1085, 2014
2532014
MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
S Melchionda, N Ahituv, L Bisceglia, T Sobe, F Glaser, R Rabionet, ...
The American Journal of Human Genetics 69 (3), 635-640, 2001
2382001
Variants at APOE influence risk of deep and lobar intracerebral hemorrhage
A Biffi, A Sonni, CD Anderson, B Kissela, JM Jagiella, H Schmidt, ...
Annals of neurology 68 (6), 934-943, 2010
2272010
A sequence of the CIS gene promoter interacts preferentially with two associated STAT5A dimers: a distinct biochemical difference between STAT5A and STAT5B
F Verdier, R Rabionet, F Gouilleux, C Beisenherz-Huss, P Varlet, O Muller, ...
Molecular and cellular biology 18 (10), 5852-5860, 1998
1751998
APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association study
A Biffi, CD Anderson, JM Jagiella, H Schmidt, B Kissela, BM Hansen, ...
The Lancet Neurology 10 (8), 702-709, 2011
1542011
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
HJ Watson, Z Yilmaz, LM Thornton, C Hübel, JRI Coleman, HA Gaspar, ...
Nature genetics 51 (8), 1207-1214, 2019
1532019
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
N López-Bigas, M Olivé, R Rabionet, O Ben-David, JA Martínez-Matos, ...
Human molecular genetics 10 (9), 947-952, 2001
1522001
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders
PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ...
Cell 179 (7), 1469-1482. e11, 2019
127*2019
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness
A Torroni, F Cruciani, C Rengo, D Sellitto, N Lopez-Bigas, R Rabionet, ...
The American Journal of Human Genetics 65 (5), 1349-1358, 1999
1181999
Connexins and deafness homepage
E Ballana
http://davinci. crg. es/deafness/, 2005
115*2005
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness
T Antoniadi
Clinical genetics 55, 381-382, 1999
991999
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Artículos 1–20