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1

Intestinal malrotation – volvulus: Imaging findings

Ballesteros Gómiz, E., Torremadé Ayats, A., Durán Feliubadaló, C., Martín Martínez, C., Caro Tarragó, A.

Journal:

Radiología (English Edition)

Year:

2015

File:

PDF, 6.41 MB

2015

2

Assessing the RNA effect of 26 DNA variants in theBRCA1andBRCA2genes

Mireia Menéndez, Joan Castellsagué, Marc Mirete, Eva Pros, Lídia Feliubadaló, Ana Osorio, Mónica Calaf, Eva Tornero, Jesús del Valle, Juana Fernández-Rodríguez, Francisco Quiles, Mónica Salinas, Angel

Journal:

Breast Cancer Research and Treatment

Year:

2012

Language:

english

File:

PDF, 842 KB

english, 2012

3

BRCA1andBRCA2mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

de Juan, Inmaculada, Palanca, Sarai, Domenech, Asunción, Feliubadaló, Lidia, Segura, Ángel, Osorio, Ana, Chirivella, Isabel, de la Hoya, Miguel, Sánchez, Ana Beatriz, Infante, Mar, Tena, Isabel, Díez,

Journal:

Familial Cancer

Year:

2015

Language:

english

File:

PDF, 442 KB

english, 2015

4

Identification and comprehensive characterization of large genomic rearrangements in theBRCA1andBRCA2genes

Jesús del Valle, Lídia Feliubadaló, Marga Nadal, Alex Teulé, Rosa Miró, Raquel Cuesta, Eva Tornero, Mireia Menéndez, Esther Darder, Joan Brunet, Gabriel Capellà, Ignacio Blanco, Conxi Lázaro

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 861 KB

english, 2010

5

Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of theBRCA1andBRCA2genes: review of the literature and report of a novelBRCA1mutation

Jesús del Valle, Lídia Feliubadaló, Conxi Lázaro

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 133 KB

english, 2010

6

Identification of a new complex rearrangement affecting exon 20 ofBRCA1

Jesús del Valle, Olga Campos, Angela Velasco, Esther Darder, Mireia Menéndez, Lídia Feliubadaló, Eva Tornero, Ignacio Blanco, Ángel Izquierdo, Joan Brunet, Gabriel Capellá, Conxi Lázaro

Journal:

Breast Cancer Research and Treatment

Year:

2011

Language:

english

File:

PDF, 1.61 MB

english, 2011

7

10.1038/12652

Palacín, Manuel, Feliubadaló, Lídia, Font, Mariona, Purroy, Jesús, Rousaud, Ferran, Estivill, Xavier, Nunes, Virginia, Golomb, Eliahu, Centola, Michael, Aksentijevich, Ivona, Kreiss, Yitshak, Goldman,

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 361 KB

english, 1999

8

10.1038/6809

Palacín, Manuel, Torrents, David, Mykkänen, Juha, Pineda, Marta, Feliubadaló, Lidia, Estévez, Raúl, Cid, Rafael de, Sanjurjo, Pablo, Zorzano, Antonio, Nunes, Virginia, Huoponen, Kirsi, Reinikainen, Ar

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 602 KB

english, 1999

9

Analysis ofSLX4/FANCPin non-BRCA1/2-mutated breast cancer families

Juana Fernández-Rodríguez, Francisco Quiles, Ignacio Blanco, Alex Teulé, Lídia Feliubadaló, Jesús del Valle, Mónica Salinas, Àngel Izquierdo, Esther Darder, Detlev Schindler, Gabriel Capellá, Joan Bru

Journal:

Year:

2012

Language:

english

File:

PDF, 197 KB

english, 2012

10

Recombinant Families Locate the Gene for Non-Type I Cystinuria between Markers C13 and D19S587 on Chromosome 19q13.1

Lı&amp, #x0301, dia Feliubadaló, Luigi Bisceglia, Mariona Font, Luca Dello Strologo, Ercole Beccia, Mine Arslan-Kirchner, Beat Steinmann, Leopoldo Zelante, Xavier Estivill, Antonio Zorzano, Manuel Palac

Journal:

Year:

1999

Language:

english

File:

PDF, 73 KB

english, 1999

11

Air concentrations of PCDD/Fs, PCBs and PCNs using active and passive air samplers

Montse Mari, Marta Schuhmacher, Joan Feliubadaló, José L. Domingo

Journal:

Year:

2008

Language:

english

File:

PDF, 192 KB

english, 2008

12

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

Feliubadaló, Lídia, Lopez-Doriga, Adriana, Castellsagué, Ester, del Valle, Jesús, Menéndez, Mireia, Tornero, Eva, Montes, Eva, Cuesta, Raquel, Gómez, Carolina, Campos, Olga, Pineda, Marta, González, S

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 631 KB

english, 2013

13

Magnetic resonance imaging in the prenatal diagnosis of neural tube defects

A. Zugazaga Cortazar, C. Martín Martinez, C. Duran Feliubadalo…

Journal:

Insights into Imaging

Year:

2013

Language:

english

File:

PDF, 896 KB

english, 2013

14

Torsión primaria del epiplón mayor en el niño

Durán Feliubadaló, C., Andreu Magarolas, M., Darnell Martin, A., Ilari Rocabert, J.

Journal:

Anales de Pediatría

Year:

2001

File:

PDF, 292 KB

2001

15

ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing

Lopez-Doriga, Adriana, Feliubadaló, Lídia, Menéndez, Mireia, Lopez-Doriga, Sergio, Morón-Duran, Francisco D., del Valle, Jesús, Tornero, Eva, Montes, Eva, Cuesta, Raquel, Campos, Olga, Gómez, Carolina

Journal:

Year:

2014

Language:

english

File:

PDF, 1.25 MB

english, 2014

16

Propuesta de protocolo para la ecografía ocular

Sánchez Torres, Lourdes, Roman Soler, Artur, Duran Feliubadaló, Carmina

Journal:

Imagen Diagnóstica

Year:

2014

File:

PDF, 1.61 MB

2014

17

Malrotación-vólvulo intestinal: hallazgos radiológicos

Ballesteros Gómiz, E., Torremadé Ayats, A., Durán Feliubadaló, C., Martín Martínez, C., Caro Tarragó, A.

Journal:

Year:

2015

File:

PDF, 3.73 MB

2015

18

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis

Feliubadalo, L.

Journal:

Human Molecular Genetics

Year:

2003

Language:

english

File:

PDF, 556 KB

english, 2003

19

Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies

Font-Llitjos, M., Feliubadalo, L., Espino, M., Cleries, R., Manas, S., Frey, I. M., Puertas, S., Colell, G., Palomo, S., Aranda, J., Visa, J., Palacin, M., Nunes, V.

Journal:

AJP Renal Physiology

Year:

2007

Language:

english

File:

PDF, 560 KB

english, 2007

20

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

Infante, M., Duran, M., Acedo, A., Sanchez-Tapia, E. M., Diez-Gomez, B., Barroso, A., Garcia-Gonzalez, M., Feliubadalo, L., Lasa, A., de la Hoya, M., Esteban-Cardenosa, E., Diez, O., Martinez-Bouzas,

Journal:

Year:

2013

Language:

english

File:

PDF, 1.13 MB

english, 2013

21

Identification of a founder BRCA1 mutation in the Moroccan population

Quiles, Francisco, Teulé, Àlex, Martinussen Tandstad, Nora, Feliubadaló, Lidia, Tornero, Eva, del Valle, Jesús, Menéndez, Mireia, Salinas, Mónica, Wethe Rognlien, Vibeke, Velasco, Angela, Izquierdo, A

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 407 KB

english, 2016

22

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 1.34 MB

english, 2017

23

Odour impact of a waste management plant in the Barcelona area, characterised by VDI3940 field observations, Gaussian ISCST modelling and CALPUFF modelling

Feliubadalo, J., Van Harreveld, A. P., Ormerod, R.

Journal:

Water Practice & Technology

Year:

2009

Language:

english

File:

PDF, 764 KB

english, 2009

24

Insomnia in young children with angelman syndrome: characteristics and phenotype-genotype association

Moraleda-Cibrián, M., Arasanz-Armengol, M., Delgadillo-Chilavert, V., Sans-Capdevila, O., Guitart-Feliubadaló, M., Gabau-Vila, E.

Journal:

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

25

Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants

Quiles, Francisco, Fernández-Rodríguez, Juana, Mosca, Roberto, Feliubadaló, Lídia, Tornero, Eva, Brunet, Joan, Blanco, Ignacio, Capellá, Gabriel, Pujana, Miquel Àngel, Aloy, Patrick, Monteiro, Alvaro,

Journal:

Year:

2013

Language:

english

File:

PDF, 490 KB

english, 2013

26

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

Tudini, Emma, Moghadasi, Setareh, Parsons, Michael T., van der Kolk, Lizet, van den Ouweland, Ans M. W., Niederacher, Dieter, Feliubadaló, Lídia, Wappenschmidt, Barbara, Spurdle, Amanda B., Lazaro, Co

Journal:

Breast Cancer Research and Treatment

Year:

2018

Language:

english

File:

PDF, 2.05 MB

english, 2018

27

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Stradella, Agostina, del Valle, Jesús, Rofes, Paula, Feliubadaló, Lídia, Grau Garces, Èlia, Velasco, Àngela, González, Sara, Vargas, Gardenia, Izquierdo, Ángel, Campos, Olga, Tornero, Eva, Navarro, Ma

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.64 MB

english, 2018

28

Opportunistic testing of BRCA1 , BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

Feliubadaló, Lídia, López‐Fernández, Adrià, Pineda, Marta, Díez, Orland, Valle, Jesús, Gutiérrez‐Enríquez, Sara, Teulé, Alex, González, Sara, Stjepanovic, Neda, Salinas, Mónica, Capellá, Gabriel, Brun

Journal:

International Journal of Cancer

Year:

2019

Language:

english

File:

PDF, 423 KB

english, 2019

29

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso-Cerezo, María Conc

Journal:

Year:

2019

File:

PDF, 354 KB

2019

30

Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers

Ponce, Jordi, Fernandez-Gonzalez, Sergi, Calvo, Iris, Climent, Maite, Peñafiel, Judith, Feliubadaló, Lidia, Teulé, Alex, Lázaro, Conxi, Brunet, Joan Maria, Candás-Estébanez, Beatriz, Durán Retamal, Mo

Journal:

International Journal of Gynecological Cancer

Year:

2019

File:

PDF, 622 KB

2019

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