J Balmaña: search on Z-Library

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1

Trastorno del espectro autista: evaluación e intervención

Balmaña, Noemi, Hervás, Amaia

Journal:

FMC - Formación Médica Continuada en Atención Primaria

Year:

2017

Language:

spanish

File:

PDF, 87 KB

spanish, 2017

2

Quantitative analysis of N-glycans from human alfa-acid-glycoprotein using stable isotope labeling and zwitterionic hydrophilic interaction capillary liquid chromatography electrospray mass spectrometry as tool for pancreatic disease diagnosis

Giménez, Estela, Balmaña, Meritxell, Figueras, Joan, Fort, Esther, Bolós, Carme de, Sanz-Nebot, Victòria, Peracaula, Rosa, Rizzi, Andreas

Journal:

Analytica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 2.19 MB

english, 2015

3

Treatment of oesophageal cancer with preoperative chemoradiotherapy may increase operative mortality

J Balart, J Balmaña, X Rius, R Salazar, M Gallen, S Navarro, A Arcusa, E Gallardo, J Brunet

Journal:

European Journal of Surgical Oncology (EJSO)

Year:

2003

Language:

english

File:

PDF, 102 KB

english, 2003

4

Monitoring Flows: theory and application

Balmana, Guy, Balmès, René

Journal:

Supply Chain Forum an International Journal

Year:

2000

Language:

english

File:

PDF, 288 KB

english, 2000

5

Le Pilotage des flux : Théorie et Pratiques

Balmana, Guy, Balmès, René

Journal:

Logistique & Management

Year:

1998

Language:

french

File:

PDF, 370 KB

french, 1998

6

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

Castillejo, Adela, Vargas, Gardenia, Castillejo, María Isabel, Navarro, Matilde, Barberá, Víctor Manuel, González, Sara, Hernández-Illán, Eva, Brunet, Joan, Ramón y Cajal, Teresa, Balmaña, Judith, Olt

Journal:

European Journal of Cancer

Year:

2014

Language:

english

File:

PDF, 493 KB

english, 2014

7

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

Montalban, Gemma, Bonache, Sandra, Moles-Fernández, Alejandro, Gisbert-Beamud, Alexandra, Tenés, Anna, Bach, Vanessa, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Diez

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.93 MB

english, 2018

8

Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†

Stjepanovic, N, Moreira, L, Carneiro, F, Balaguer, F, Cervantes, A, Balmaña, J, Martinelli, E

Journal:

Annals of Oncology

Year:

2019

Language:

english

File:

PDF, 761 KB

english, 2019

9

Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC

Toma, Claudio, Hervás, Amaia, Balmaña, Noemí, Salgado, Marta, Maristany, Marta, Vilella, Elisabet, Aguilera, Francisco, Orejuela, Carmen, Cuscó, Ivon, Gallastegui, Fátima, Pérez-Jurado, Luis Alberto,

Journal:

The World Journal of Biological Psychiatry

Year:

2013

Language:

english

File:

PDF, 188 KB

english, 2013

10

Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC)

Andrés, R., Pajares, I., Balmaña, J., Llort, G., Ramón y Cajal, T., Chirivella, I., Aguirre, E., Robles, L., Lastra, E., Pérez-Segura, P., Bosch, N., Yagüe, C., Lerma, E., Godino, J., Miramar, M. D.,

Journal:

Clinical and Translational Oncology

Year:

2014

Language:

english

File:

PDF, 166 KB

english, 2014

11

Heterogeneous prevalence of recurrentBRCA1andBRCA2mutations in Spain according to the geographical area: implications for genetic testing

Orland Diez, Sara Gutiérrez-Enríquez, Judith Balmaña

Journal:

Familial Cancer

Year:

2010

Language:

english

File:

PDF, 285 KB

english, 2010

12

What is the hereditary non-polyposis colorectal cancer syndrome?

Judith Balmaña, Joan Brunet, Carlos Pericay, Gabriel Capellà, Miguel ángel Peinado, Ignacio Blanco, Juan José López López, Eugenio Marcuello

Journal:

Clinical and Translational Oncology

Year:

2000

Language:

english

File:

PDF, 487 KB

english, 2000

13

Moving From Poly (ADP-Ribose) Polymerase Inhibition to Targeting DNA Repair and DNA Damage Response in Cancer Therapy

Gourley, Charlie, Balmaña, Judith, Ledermann, Jonathan A., Serra, Violeta, Dent, Rebecca, Loibl, Sibylle, Pujade-Lauraine, Eric, Boulton, Simon J.

Journal:

Journal of Clinical Oncology

Year:

2019

Language:

english

File:

PDF, 883 KB

english, 2019

14

Characterization of four novelBRCA2large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin

Gorka Ruiz de Garibay, Sara Gutiérrez-Enríquez, Pilar Garre, Sandra Bonache, Atocha Romero, Laura Palomo, Ana Sánchez de Abajo, Javier Benítez, Judith Balmaña, Pedro Pérez-Segura, Eduardo Díaz-Rubio,

Journal:

Breast Cancer Research and Treatment

Year:

2012

Language:

english

File:

PDF, 543 KB

english, 2012

15

3532 POSTER Uptake of Prophylactic Mastectomy And/or Salpingo-ophorectomy Among Spanish BRCA Mutation Carriers

M. Coma, N. Bosch, N. Gadea, O. Díez, M. Masas, A. Gil, I. Rubio, J. Cortés, B. Graña, J. Balmaña

Journal:

European Journal of Cancer

Year:

2011

Language:

english

File:

PDF, 39 KB

english, 2011

16

1150 Altered Glycosylation of Serum Glycoproteins as Tumour Biomarkers – the Case of Prostate-specific Antigen in Prostate Cancer and the Case of Acute-phase Proteins in Pancreatic Adenocarcinoma

Peracaula, R., Sarrats, A., Balmana, M., Llop, E., Barrabés, S., Saldova, R., Comet, J., Figueras, J., Rudd, P.M., de Llorens, R.

Journal:

European Journal of Cancer

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

17

Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines

Balmana, J., Balaguer, F., Cervantes, A., Arnold, D.

Journal:

Annals of Oncology

Year:

2013

Language:

english

File:

PDF, 267 KB

english, 2013

18

Selecting Patients with Ovarian Cancer for GermlineBRCAMutation Testing: Findings from Guidelines and a Systematic Literature Review

Eccles, Diana M., Balmaña, Judith, Clune, Joe, Ehlken, Birgit, Gohlke, Annegret, Hirst, Ceri, Potter, Danielle, Schroeder, Claudia, Tyczynski, Jerzy E., Gomez Garcia, Encarnacion B.

Journal:

Advances in Therapy

Year:

2016

Language:

english

File:

PDF, 1.19 MB

english, 2016

19

A narrative overview of the patients’ outcomes after multigene cancer panel testing: Thorough evaluation of its implications for genetic counselling

Esteban, I., Lopez-Fernandez, A., Balmaña, J.

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 725 KB

english, 2018

20

Uptake of predictive testing among relatives ofBRCA1andBRCA2families: a multicenter study in northeastern Spain

Judit Sanz, Teresa Ramón y Cajal, Asunción Torres, Esther Darder, Neus Gadea, Angela Velasco, Daniel Fortuny, Consol López, David Fisas, Joan Brunet, M. Carmen Alonso, Judith Balmaña

Journal:

Familial Cancer

Year:

2010

Language:

english

File:

PDF, 179 KB

english, 2010

21

Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients

Balmana, J, Balaguer, F, Castellvi-Bel, S, Steyerberg, E W, Andreu, M, Llor, X, Jover, R, Castells, A, Syngal, S

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 192 KB

english, 2008

22

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer

Rubio, Izaskun, Ibáñez-Feijoo, Eduardo, Andrés, Leire, Aguirre, Elena, Balmaña, Judith, Blay, Pilar, Llort, Gemma, González-Santiago, Santiago, Maortua, Hiart, Tejada, Maria Isabel, Martinez-Bouzas, C

Journal:

Year:

2016

Language:

english

File:

PDF, 116 KB

english, 2016

23

Genetic Testing and Clinical Management Practices for Variants in Non- BRCA1 / 2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fahd, Balmaña, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria, Capone, Gabriele Lorenzo, Caval

Journal:

JCO Precision Oncology

Year:

2018

File:

PDF, 1.37 MB

2018

24

314PNext-generation DNA sequencing (NGS) results for tumours from phase II ABRAZO study of talazoparib after platinum or cytotoxic non-platinum regimens in patients (pts) with advanced breast cancer (ABC) and germline BRCA1/2 (gBRCA) mutations

Turner, N C, Laird, A D, Telli, M L, Rugo, H S, Mailliez, A, Ettl, J, Grischke, E -M, Mina, L A, Balmaña, J, Fasching, P A, Hurvitz, S A, Albacker, L A, Frampton, G M, Chelliserry, J, Bycott, P, Conte

Journal:

Annals of Oncology

Year:

2019

File:

PDF, 93 KB

2019

25

Parity and the risk of breast and ovarian cancer inBRCA1andBRCA2mutation carriers

Roger L. Milne, Ana Osorio, Teresa Ramón y Cajal, Montserrat Baiget, Adriana Lasa, Eduardo Diaz-Rubio, Miguel de la Hoya, Trinidad Caldés, Alex Teulé, Conxi Lázaro, Ignacio Blanco, Judith Balmaña, Ges

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 215 KB

english, 2010

26

A novel de novoBRCA2mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

Orland Diez, Sara Gutiérrez-Enríquez, Carmen Mediano, Miriam Masas, Cristina Saura, Neus Gadea, Judith Balmaña

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 232 KB

english, 2010

27

Comprehensive functional assessment of MLH1 variants of unknown significance

Ester Borràs, Marta Pineda, Angela Brieger, Inga Hinrichsen, Carolina Gómez, Matilde Navarro, Judit Balmaña, Teresa Ramón y Cajal, Asunción Torres, Joan Brunet, Ignacio Blanco, Guido Plotz, Conxi Láza

Journal:

Year:

2012

Language:

english

File:

PDF, 1003 KB

english, 2012

28

What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure?

Nina Bosch, Núria Junyent, Neus Gadea, Joan Brunet, Teresa Ramon y Cajal, Asunción Torres, Begoña Graña, Angela Velasco, Esther Darder, Irene Mensa, Judith Balmaña

Journal:

Year:

2012

Language:

english

File:

PDF, 185 KB

english, 2012

29

Reply to R.L. Nussbaum et al and J.S. Dolinsky et al

Balmaña, Judith, Nathanson, Katherine, Offit, Kenneth, Robson, Mark, Domchek, Susan

Journal:

Journal of Clinical Oncology

Year:

2017

File:

PDF, 438 KB

2017

30

Mammographic Density and Breast Cancer in BRCA1/BRCA2 Carriers.

Pollan, M., Ramon y Cajal, T., Chirivella, I., Miranda, J., Teule, A., Brunet, J., Sanchez-Heras, A. B., Llort, G., Balmañà, J., Carvajal, V., Hernandez-Agudo, E., Juan-Fita, M. J., Tena-García, I., R

Journal:

International Journal of Epidemiology

Year:

2015

Language:

english

File:

PDF, 61 KB

english, 2015

31

Desarrollo y aplicación de modelos predictivos en el síndrome de Lynch

Isela Quispe, Judith Balmaña

Journal:

Medicina Clínica

Year:

2010

File:

PDF, 196 KB

2010

32

A 10-year step forward in hereditary cancer in Spain

B. Graña, J. Balmaña

Journal:

Clinical and Translational Oncology

Year:

2013

Language:

english

File:

PDF, 93 KB

english, 2013

33

The PREMM1,2,6 Model Predicts Risk of MLH1, MSH2, and MSH6 Germline Mutations Based on Cancer History

Fay Kastrinos, Ewout W. Steyerberg, Rowena Mercado, Judith Balmaña, Spring Holter, Steven Gallinger, Kimberly D. Siegmund, James M. Church, Mark A. Jenkins, Noralane M. Lindor, Stephen N. Thibodeau, L

Journal:

Gastroenterology

Year:

2011

Language:

english

File:

PDF, 720 KB

english, 2011

34

The Role of Platinum Compounds for the Treatment of Breast Cancer

Begoña Graña, Natalia Fernández, Judith Balmaña

Journal:

Current Breast Cancer Reports

Year:

2013

Language:

english

File:

PDF, 196 KB

english, 2013

35

Análisis del haplotipo en portadores de la mutación 6857delAA en el gen BRCA2 en 4 familias con cáncer de mama u ovario hereditario

Campos, Berta, Díez, Orland, Álvarez, Carolina, Palma, Lorena, Domènech, Montserrat, Balmaña, Judith, Sanz, Judit, Ramírez, Amaya, Alonso, Carmen, Carvallo, Pilar, Baiget, Montserrat

Journal:

Medicina Clínica

Year:

2004

File:

PDF, 66 KB

2004

36

244 Development of xenoimplants from germline BRCA1/2 mutant breast cancer (BC) for the identification of predictive biomarkers, mechanisms of resistance against poly(ADP-ribose) polymerase (PARP) inhibitors and evaluation of novel therapies

Cruz, C., Ibrahim, Y., Morancho, B., Anton, P., Grueso, J., Cozar, P., GuzmÁn, M., Avilés, P.M., Guillen, M.J., Galmarini, C., Arribas, J., Baselga, J., Balmaña, J., Serra, V.

Journal:

European Journal of Cancer

Year:

2014

Language:

english

File:

PDF, 59 KB

english, 2014

37

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

Borras, E., Pineda, M., Blanco, I., Jewett, E. M., Wang, F., Teule, A., Caldes, T., Urioste, M., Martinez-Bouzas, C., Brunet, J., Balmana, J., Torres, A., Ramon y Cajal, T., Sanz, J., Perez-Cabornero,

Journal:

Cancer Research

Year:

2010

Language:

english

File:

PDF, 446 KB

english, 2010

38

Olaparib Monotherapy in Patients With Advanced Cancer and a Germline BRCA1/2 Mutation

Kaufman, B., Shapira-Frommer, R., Schmutzler, R. K., Audeh, M. W., Friedlander, M., Balmana, J., Mitchell, G., Fried, G., Stemmer, S. M., Hubert, A., Rosengarten, O., Steiner, M., Loman, N., Bowen, K.

Journal:

Journal of Clinical Oncology

Year:

2015

Language:

english

File:

PDF, 179 KB

english, 2015

39

Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation

Cedrés, Susana, Felip, Enriqueta, Cruz, Cristina, Martinez de Castro, Ana, Pardo, Nuria, Navarro, Alejandro, Martinez-Marti, Alex, Remon, Jordin, Zeron-Medina, Jorge, Balmaña, Judith, Llop-Guevara, Al

Journal:

JNCI Journal of the National Cancer Institute

Year:

2018

Language:

english

File:

PDF, 1.04 MB

english, 2018

40

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

Friebel, Tara M., Andrulis, Irene L., Balmaña, Judith, Blanco, Amie M., Couch, Fergus J., Daly, Mary B., Domchek, Susan M., Easton, Douglas F., Foulkes, William D., Ganz, Patricia A., Garber, Judy, Gl

Journal:

Year:

2019

Language:

english

File:

PDF, 461 KB

english, 2019

41

1028 Comparison of the Clinical Prediction Model Premm1,2,6 With Colorectal Cancer Molecular Tumor Testing for Lynch Syndrome in the Colon Cancer Family Registry

Fay Kastrinos, Ewout W Steyerberg, Judith Balmaña, Rowena Mercado, Steven Gallinger, Robert W. Haile, John Hopper, Loïc Le Marchand, Noralane M. Lindor, Polly A. Newcomb, Stephen N. Thibodeau, Sapna S

Journal:

Gastroenterology

Year:

2010

Language:

english

File:

PDF, 120 KB

english, 2010

42

172 BRCA1 mutation is strongly associated with a triple negative phenotype in breast cancer patients

O. Cordoba, I. Rubio, J. Xercavins, O. Diez, M. Alvarez, T. Cortadellas, J. Balmaña

Journal:

European Journal of Cancer Supplements

Year:

2010

Language:

english

File:

PDF, 48 KB

english, 2010

43

Phenotype Comparison of MLH1 and MSH2 Mutation Carriers in a Cohort of 1,914 Individuals Undergoing Clinical Genetic Testing in the United States

Kastrinos, F., Stoffel, E. M., Balmana, J., Steyerberg, E. W., Mercado, R., Syngal, S.

Journal:

Cancer Epidemiology Biomarkers & Prevention

Year:

2008

Language:

english

File:

PDF, 183 KB

english, 2008

44

Analysis of sialyl-Lewis x on MUC5AC and MUC1 mucins in pancreatic cancer tissues

Balmaña, Meritxell, Duran, Adrià, Gomes, Catarina, Llop, Esther, López-Martos, Raquel, Rosa Ortiz, M., Barrabés, Sílvia, Reis, Celso A., Peracaula, Rosa

Journal:

International Journal of Biological Macromolecules

Year:

2018

Language:

english

File:

PDF, 22.18 MB

english, 2018

45

European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer

Rutgers, Emiel, Balmana, Judith, Beishon, Marc, Benn, Karen, Evans, D. Gareth, Mansel, Robert, Pharoah, Paul, Perry Skinner, Victoria, Stoppa-Lyonnet, Dominique, Travado, Luzia, Wyld, Lynda

Journal:

European Journal of Cancer

Year:

2019

Language:

english

File:

PDF, 343 KB

english, 2019

46

Screening for Lynch syndrome among endometrial cancer patients less than 60 years

Aguirre, E., Mele, M., Tuset, N., Velasco, A., Tarragona, J., Sampayo, M., Serrano, S., Riu, F., Rodriguez-Balada, M., Matias-Guiu, X., Garcia, E., Ortega, E., BalmaÑa, J.

Journal:

Annals of Oncology

Year:

2016

File:

PDF, 64 KB

2016

47

Combining a PI3K Inhibitor with a PARP Inhibitor Provides an Effective Therapy for BRCA1-Related Breast Cancer

Juvekar, A., Burga, L. N., Hu, H., Lunsford, E. P., Ibrahim, Y. H., Balmana, J., Rajendran, A., Papa, A., Spencer, K., Lyssiotis, C. A., Nardella, C., Pandolfi, P. P., Baselga, J., Scully, R., Asara,

Journal:

Cancer Discovery

Year:

2012

Language:

english

File:

PDF, 2.18 MB

english, 2012

48

BRCA in breast cancer: ESMO Clinical Recommendations

Balmana, J., Diez, O., Castiglione, M.

Journal:

Annals of Oncology

Year:

2009

Language:

english

File:

PDF, 46 KB

english, 2009

49

Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort

Fortuny, D., Balmana, J., Grana, B., Torres, A., Cajal, T. R. y, Darder, E., Gadea, N., Velasco, A., Lopez, C., Sanz, J., Alonso, C., Brunet, J.

Journal:

Human Reproduction

Year:

2009

Language:

english

File:

PDF, 33 KB

english, 2009

50

Genetic counseling program in familial breast cancer: Analysis of its effectiveness, cost and cost-effectiveness ratio

Judith Balmaña, Judit Sanz, Xavier Bonfill, Alfonso Casado, Montse Rué, Ignasi Gich, Orland Díez, Josep M. Sabaté, Montserrat Baiget, M. Carmen Alonso

Journal:

International Journal of Cancer

Year:

2004

Language:

english

File:

PDF, 95 KB

english, 2004

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