N. Lopez-bigas: search on Z-Library

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1

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, G. Restagno, M.L. Arbonés, P. Gasparini, X. Estivill

Journal:

Year:

2000

Language:

english

File:

PDF, 36 KB

english, 2000

2

46: Proffered Paper: Therapeutical landscape of cancer drivers

Gonzalez-Perez, A., Tamborero, D., Rubio, C., Schroeder, M., Perez-Llamas, C., Deu-Pons, J., Lopez-Bigas, N.

Journal:

European Journal of Cancer

Year:

2014

Language:

english

File:

PDF, 240 KB

english, 2014

3

jHeatmap: an interactive heatmap viewer for the web

Deu-Pons, J., Schroeder, M. P., Lopez-Bigas, N.

Journal:

Year:

2014

Language:

english

File:

PDF, 257 KB

english, 2014

4

Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes

Pich, Oriol, Muiños, Ferran, Sabarinathan, Radhakrishnan, Reyes-Salazar, Iker, Gonzalez-Perez, Abel, Lopez-Bigas, Nuria

Journal:

Year:

2018

Language:

english

File:

PDF, 8.85 MB

english, 2018

5

Are carcinogens direct mutagens?

Lopez-Bigas, Nuria, Gonzalez-Perez, Abel

Journal:

Nature Genetics

Year:

2020

File:

PDF, 1.26 MB

2020

6

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

Núria López-Bigas, Raquel Rabionet, Rafael de Cid, Nancy Govea, Paolo Gasparini, Leopoldo Zelante, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

1999

Language:

english

File:

PDF, 333 KB

english, 1999

7

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

Núria López-Bigas, Raquel Rabionet, Elisabeth Martínez, Isabel Banchs, Víctor Volpini, Jeffery M. Vance, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

2000

Language:

english

File:

PDF, 16 KB

english, 2000

8

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

N. López-Bigas, S. Melchionda, R. de Cid, A. Grifa, L. Zelante, N. Govea, M.L. Arbonés, P. Gasparini, X. Estivill

Journal:

Year:

2001

Language:

english

File:

PDF, 23 KB

english, 2001

9

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families

Núria López-Bigas, Salvatore Melchionda, Paolo Gasparini, Alfonso Borragán, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

2002

Language:

english

File:

PDF, 402 KB

english, 2002

10

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

N. López-Bigas, S. Melchionda, R. de Cid, A. Grifa, L. Zelante, N. Govea, M.L. Arbonés, P. Gasparini, X. Estivill

Journal:

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

11

10.1038/12612

Gasparini, Paolo, Grifa, Anna, Wagner, Carsten A., D'Ambrosio, Lucrezia, Melchionda, Salvatore, Bernardi, Francesco, Lopez-Bigas, Nuria, Rabionet, Raquel, Arbones, Mariona, Monica, Matteo Della, Estiv

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 246 KB

english, 1999

12

Transcriptional activation of polycomb-repressed genes by ZRF1

Lopez-Bigas, Nuria, Nakagawa, Tekeya, Rospert, Sabine, Ito, Takashi, Di Croce, Luciano, Richly, Holger, Rocha-Viegas, Luciana, Ribeiro, Joana Domingues, Demajo, Santiago, Gundem, Gunes

Journal:

Year:

2010

Language:

english

File:

PDF, 383 KB

english, 2010

13

IntOGen: integration and data mining of multidimensional oncogenomic data

Gundem, Gunes, Perez-Llamas, Christian, Jene-Sanz, Alba, Kedzierska, Anna, Islam, Abul, Deu-Pons, Jordi, Furney, Simon J, Lopez-Bigas, Nuria

Journal:

Year:

2010

Language:

english

File:

PDF, 247 KB

english, 2010

14

Biological reprogramming in acquired resistance to endocrine therapy of breast cancer

Aguilar, H, Solé, X, Bonifaci, N, Serra-Musach, J, Islam, A, López-Bigas, N, Méndez-Pertuz, M, Beijersbergen, R L, Lázaro, C, Urruticoechea, A

Journal:

Year:

2010

Language:

english

File:

PDF, 1.17 MB

english, 2010

15

Oncogenomics Methods and Resources

Furney, S. J., Gundem, G., Lopez-Bigas, N.

Journal:

Cold Spring Harbor Protocols

Year:

2012

Language:

english

File:

PDF, 825 KB

english, 2012

16

p27Kip1 represses transcription by direct interaction with p130/E2F4 at the promoters of target genes

Pippa, R, Espinosa, L, Gundem, G, García-Escudero, R, Dominguez, A, Orlando, S, Gallastegui, E, Saiz, C, Besson, A, Pujol, M J, López-Bigas, N, Paramio, J M, Bigas, A, Bachs, O

Journal:

Year:

2012

Language:

english

File:

PDF, 986 KB

english, 2012

17

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

Abel González-Pérez, Nuria López-Bigas

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 294 KB

english, 2011

18

A partially supervised classification approach to dominant and recessive human disease gene prediction

Borja Calvo, Núria López-Bigas, Simon J. Furney, Pedro Larrañaga, Jose A. Lozano

Journal:

Computer Methods and Programs in Biomedicine

Year:

2007

Language:

english

File:

PDF, 932 KB

english, 2007

19

RETRACTED: Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

Núria López-Bigas, Maria L Arbonés, Xavier Estivill, Lionel Simonneau

Journal:

Gene Expression Patterns

Year:

2002

Language:

english

File:

PDF, 494 KB

english, 2002

20

Patterns of evolutionary constraints on genes in humans

De Subhajyoti, Nuria Lopez-Bigas, Sarah A Teichmann

Journal:

BMC Evolutionary Biology

Year:

2008

Language:

english

File:

PDF, 724 KB

english, 2008

21

Whole genome analysis of p38 SAPK-mediated gene expression upon stress

Isabel Ferreiro, Manel Joaquin, Abul Islam, Gonzalo Gomez-Lopez, Montserrat Barragan, Luís Lombardía, Orlando Domínguez, David G Pisano, Nuria Lopez-Bigas, Angel R Nebreda, Francesc Posas

Journal:

Year:

2010

Language:

english

File:

PDF, 2.03 MB

english, 2010

22

Differences in the evolutionary history of disease genes affected by dominant or recessive mutations

Simon J Furney, M Mar Albà, Núria López-Bigas

Journal:

Year:

2006

Language:

english

File:

PDF, 320 KB

english, 2006

23

Structural and functional properties of genes involved in human cancer

Simon J Furney, Desmond G Higgins, Christos A Ouzounis, Núria López-Bigas

Journal:

Year:

2006

Language:

english

File:

PDF, 866 KB

english, 2006

24

Coordinated repression of cell cycle genes by KDM5A and E2F4 during differentiation

Beshiri, M. L., Holmes, K. B., Richter, W. F., Hess, S., Islam, A. B. M. M. K., Yan, Q., Plante, L., Litovchick, L., Gevry, N., Lopez-Bigas, N., Kaelin, W. G., Benevolenskaya, E. V.

Journal:

Proceedings of the National Academy of Sciences

Year:

2012

Language:

english

File:

PDF, 941 KB

english, 2012

25

Are splicing mutations the most frequent cause of hereditary disease?

Núria López-Bigas, Benjamin Audit, Christos Ouzounis, Genís Parra, Roderic Guigó

Journal:

Year:

2005

Language:

english

File:

PDF, 93 KB

english, 2005

26

Genome-wide Analysis of the H3K4 Histone Demethylase RBP2 Reveals a Transcriptional Program Controlling Differentiation

Nuria Lopez-Bigas, Tomasz A. Kisiel, Dannielle C. DeWaal, Katie B. Holmes, Tom L. Volkert, Sumeet Gupta, Jennifer Love, Heather L. Murray, Richard A. Young, Elizaveta V. Benevolenskaya

Journal:

Year:

2008

Language:

english

File:

PDF, 1.45 MB

english, 2008

27

Connexin mutations in hearing loss, dermatological and neurological disorders

Raquel Rabionet, Núria López-Bigas, Maria Lourdes Arbonès, Xavier Estivill

Journal:

Trends in Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 968 KB

english, 2002

28

The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness

Antonio Torroni, Fulvio Cruciani, Chiara Rengo, Daniele Sellitto, Núria López-Bigas, Raquel Rabionet, Nancy Govea, Adolfo López de Munain, Maritza Sarduy, Lourdes Romero, Manuela Villamar, Ignacio del

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 107 KB

english, 1999

29

Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation

N. López-Bigas, R. Rabionet, E. Martinez, O. Bravo, J. Girons, A. Borragan, M. Pellicer, M.L. Arbonés, X. Estivill

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 48 KB

english, 2000

30

Drosophila GAGA factor is required for full activation of the dE2f1-Yki/Sd transcriptional program

Bayarmagnai, Battuya, Nicolay, Brandon N., Islam, Abul B.M.M.K., Lopez-Bigas, Nuria, Frolov, Maxim V.

Journal:

Year:

2012

Language:

english

File:

PDF, 5.80 MB

english, 2012

31

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

Núria López-Bigas, Maria L. Arbonés, Xavier Estivill, Lionel Simonneau

Journal:

Mechanisms of Development

Year:

2002

Language:

english

File:

PDF, 486 KB

english, 2002

32

Molecular basis of childhood deafness resulting from mutations in theGJB2(connexin

R. Rabionet,L. Zelante,N. López-Bigas,L. D'Agruma,S. Melchionda…

Journal:

Year:

2000

Language:

english

File:

PDF, 36 KB

english, 2000

33

Functional protein divergence in the evolution ofHomo sapiens

Nuria Lopez-Bigas, Subhajyoti De, Sarah A Teichmann

Journal:

Year:

2008

Language:

english

File:

PDF, 1.14 MB

english, 2008

34

Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation

Abel Gonzalez-Perez, Jordi Deu-Pons, Nuria Lopez-Bigas

Journal:

Genome Medicine

Year:

2012

Language:

english

File:

PDF, 294 KB

english, 2012

35

Sample-level enrichment analysis unravels shared stress phenotypes among multiple cancer types

Gunes Gundem, Nuria Lopez-Bigas

Journal:

Genome Medicine

Year:

2012

Language:

english

File:

PDF, 978 KB

english, 2012

36

OncodriveCLUST: exploiting the positional clustering of somatic mutations to identify cancer genes

Tamborero, D., Gonzalez-Perez, A., Lopez-Bigas, N.

Journal:

Year:

2013

Language:

english

File:

PDF, 551 KB

english, 2013

37

Identification of novel markers in rheumatoid arthritis through integrated analysis of DNA methylation and microRNA expression

de la Rica, Lorenzo, Urquiza, José M., Gómez-Cabrero, David, Islam, Abul B.M.M.K., López-Bigas, Nuria, Tegnér, Jesper, Toes, René E.M., Ballestar, Esteban

Journal:

Journal of Autoimmunity

Year:

2013

Language:

english

File:

PDF, 1.28 MB

english, 2013

38

Expression of Polycomb Targets Predicts Breast Cancer Prognosis

Jene-Sanz, A., Varaljai, R., Vilkova, A. V., Khramtsova, G. F., Khramtsov, A. I., Olopade, O. I., Lopez-Bigas, N., Benevolenskaya, E. V.

Journal:

Molecular and Cellular Biology

Year:

2013

Language:

english

File:

PDF, 3.15 MB

english, 2013

39

Loss of dE2F Compromises Mitochondrial Function

Ambrus, Aaron M., Islam, Abul B.M.M.K., Holmes, Katherine B., Moon, Nam Sung, Lopez-Bigas, Nuria, Benevolenskaya, Elizaveta V., Frolov, Maxim V.

Journal:

Developmental Cell

Year:

2013

Language:

english

File:

PDF, 4.44 MB

english, 2013

40

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

Lopez-Bigas, N.

Journal:

Human Molecular Genetics

Year:

2001

Language:

english

File:

PDF, 367 KB

english, 2001

41

Regulation of Plant Stem Cell Quiescence by a Brassinosteroid Signaling Module

Vilarrasa-Blasi, Josep, González-García, Mary-Paz, Frigola, David, Fàbregas, Norma, Alexiou, Konstantinos G., López-Bigas, Nuria, Rivas, Susana, Jauneau, Alain, Lohmann, Jan U., Benfey, Philip N., Iba

Journal:

Developmental Cell

Year:

2014

Language:

english

File:

PDF, 4.00 MB

english, 2014

42

Comprehensive identification of mutational cancer driver genes across 12 tumor types

Tamborero, David, Gonzalez-Perez, Abel, Perez-Llamas, Christian, Deu-Pons, Jordi, Kandoth, Cyriac, Reimand, Jüri, Lawrence, Michael S., Getz, Gad, Bader, Gary D., Ding, Li, Lopez-Bigas, Nuria

Journal:

Scientific Reports

Year:

2013

Language:

english

File:

PDF, 1.48 MB

english, 2013

43

455: The role of new cancer hallmarks in tumorigenesis

Gonzalez-Perez, A., Jene-Sanz, A., Tamborero, D., Lopez-Bigas, N.

Journal:

European Journal of Cancer

Year:

2014

Language:

english

File:

PDF, 63 KB

english, 2014

44

Identification of Cdca7 as a novel Notch transcriptional target involved in hematopoietic stem cell emergence

Guiu, J., Bergen, D. J. M., De Pater, E., Islam, A. B. M. M. K., Ayllon, V., Gama-Norton, L., Ruiz-Herguido, C., Gonzalez, J., Lopez-Bigas, N., Menendez, P., Dzierzak, E., Espinosa, L., Bigas, A.

Journal:

Journal of Experimental Medicine

Year:

2014

Language:

english

File:

PDF, 3.25 MB

english, 2014

45

Visualizing multidimensional cancer genomics data

Michael P Schroeder,Abel Gonzalez-Perez,Nuria Lopez-Bigas

Journal:

Genome Medicine

Year:

2013

Language:

english

File:

PDF, 521 KB

english, 2013

46

Improving data and knowledge management to better integrate health care and research

Cases, M., Furlong, L. I., Albanell, J., Altman, R. B., Bellazzi, R., Boyer, S., Brand, A., Brookes, A. J., Brunak, S., Clark, T. W., Gea, J., Ghazal, P., Graf, N., Guigó, R., Klein, T. E., López-Biga

Journal:

Journal of Internal Medicine

Year:

2013

Language:

english

File:

PDF, 1.17 MB

english, 2013

47

IntOGen-mutations identifies cancer drivers across tumor types

Gonzalez-Perez, Abel, Perez-Llamas, Christian, Deu-Pons, Jordi, Tamborero, David, Schroeder, Michael P, Jene-Sanz, Alba, Santos, Alberto, Lopez-Bigas, Nuria

Journal:

Year:

2013

Language:

english

File:

PDF, 309 KB

english, 2013

48

PARADIGM-SHIFT predicts the function of mutations in multiple cancers using pathway impact analysis

Ng, S., Collisson, E. A., Sokolov, A., Goldstein, T., Gonzalez-Perez, A., Lopez-Bigas, N., Benz, C., Haussler, D., Stuart, J. M.

Journal:

Year:

2012

Language:

english

File:

PDF, 570 KB

english, 2012

49

Chromatin-wide Profiling of DYRK1A Reveals a Role as a Gene-Specific RNA Polymerase II CTD Kinase

Di Vona, Chiara, Bezdan, Daniela, Islam, Abul B.M.M.K., Salichs, Eulàlia, López-Bigas, Nuria, Ossowski, Stephan, de la Luna, Susana

Journal:

Year:

2015

Language:

english

File:

PDF, 2.97 MB

english, 2015

50

Jagged1 is the pathological link between Wnt and Notch pathways in colorectal cancer

Rodilla, V., Villanueva, A., Obrador-Hevia, A., Robert-Moreno, A., Fernandez-Majada, V., Grilli, A., Lopez-Bigas, N., Bellora, N., Alba, M. M., Torres, F., Dunach, M., Sanjuan, X., Gonzalez, S., Gridl

Journal:

Proceedings of the National Academy of Sciences

Year:

2009

Language:

english

File:

PDF, 1.55 MB

english, 2009