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1

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects

L. Rodríguez-Pazos, M. Ginarte, L. Fachal, J. Toribio, A. Carracedo, A. Vega

Journal:

British Journal of Dermatology

Year:

2011

Language:

english

File:

PDF, 76 KB

english, 2011

2

Characterization ofBRCA1andBRCA2splicing variants: a collaborative report by ENIGMA consortium members

Mads Thomassen, Ana Blanco, Marco Montagna, Thomas V. O. Hansen, Inge S. Pedersen, Sara Gutiérrez-Enríquez, Mireia Menéndez, Laura Fachal, Marta Santamariña, Ane Y. Steffensen, Lars Jønson, Simona Aga

Journal:

Breast Cancer Research and Treatment

Year:

2012

Language:

english

File:

PDF, 476 KB

english, 2012

3

A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1

Fachal, Laura, Gómez-Caamaño, Antonio, Barnett, Gillian C, Peleteiro, Paula, Carballo, Ana M, Calvo-Crespo, Patricia, Kerns, Sarah L, Sánchez-García, Manuel, Lobato-Busto, Ramón, Dorling, Leila, Ellio

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 497 KB

english, 2014

4

Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines

Walker, Logan C., Whiley, Phillip J., Houdayer, Claude, Hansen, Thomas V. O., Vega, Ana, Santamarina, Marta, Blanco, Ana, Fachal, Laura, Southey, Melissa C., Lafferty, Alan, Colombo, Mara, De Vecchi,

Journal:

Year:

2013

Language:

english

File:

PDF, 177 KB

english, 2013

5

Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation

Boyden, L.M., Craiglow, B.G., Hu, R.H., Zhou, J., Browning, J., Eichenfield, L., Lim, Y.L., Luu, M., Randolph, L.M., Ginarte, M., Fachal, L., Rodriguez-Pazos, L., Vega, A., Kramer, D., Yosipovitch, G.

Journal:

British Journal of Dermatology

Year:

2017

Language:

english

File:

PDF, 247 KB

english, 2017

6

Subungual Blue Nevus

Fachal, C., Pérez-Pérez, L.C., Allegue, F., Calviño, S.

Journal:

Actas Dermo-Sifiliográficas (English Edition)

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

7

Pigmented Deposits in the Skin

Fernandez-Flores, Angel, Bermúdez, Carmen Fachal, Molina, Inmaculada, Saus, Carles, Monteagudo, Carlos, Cassarino, David Cassarino

Journal:

American Journal of Dermatopathology

Year:

2018

Language:

english

File:

PDF, 2.17 MB

english, 2018

8

SAE Technical Paper Series [SAE International 21st SAE Brasil International Congress and Exhibition - (OCT. 02, 2012)] SAE Technical Paper Series - Sprint Engine Crankcases Commonization: Design Concept in Benefit of the Whole Automotive Chain

Fachal, Eduardo Vilaboa, da Silva, Edson Wilian, Goncalves, Simone, Rolin, Paulo

Year:

2012

Language:

english

File:

PDF, 915 KB

english, 2012

9

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Esperón-Moldes, U, Ginarte Val, M, Rodríguez-Pazos, L, Fachal, L, Azaña, J, Fons, M, Viejo Diaz, M, Vega, A

Journal:

Acta Dermato Venereologica

Year:

2019

Language:

english

File:

PDF, 880 KB

english, 2019

10

Candidate Causal Variants at the 8p12 Breast Cancer Risk Locus Regulate DUSP4

Glubb, Dylan M., Shi, Wei, Beesley, Jonathan, Fachal, Laura, Pritchard, Jayne-Louise, McCue, Karen, Barnes, Daniel R., Antoniou, Antonis C., Dunning, Alison M., Easton, Douglas F., Chenevix-Trench, Ge

Journal:

Year:

2020

Language:

english

File:

PDF, 1.12 MB

english, 2020

11

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Serra, Eva GonÃ§alves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M., Posovszky, Carsten, Rodrigues, Astor, Russell, R

Journal:

Nature Communications

Year:

2020

Language:

english

File:

PDF, 1.44 MB

english, 2020

12

Lipoid proteinosis. A biochemical and ultrastructural investigation of two new cases

Navarro, Fachal, Rodríguez, Padró, Domínguez

Journal:

British Journal of Dermatology

Year:

1999

Language:

english

File:

PDF, 300 KB

english, 1999

13

BRCA1 mutations do not increase prostate cancer risk: Results from a meta-analysis including new data

Laura Fachal, Antonio Gómez-Caamaño, Catuxa Celeiro-Muñoz, Paula Peleteiro, Ana Blanco, Ana Carballo, Jerónimo Forteza, Ángel Carracedo, Ana Vega

Journal:

Year:

2011

Language:

english

File:

PDF, 331 KB

english, 2011

14

Case report: Four-year follow-up of bone-marrow transplantation in late juvenile metachromatic leukodystrophy

C. Navarro, C. Domínguez, J. M. Fernández, C. Fachal, M. Alvárez

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 119 KB

english, 1995

15

Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients

Carmen Navarro, Susana Teijeira, Carmen Dominguez, Jose M. Fernandez, Eloy Rivas, Carmen Fachal, Soraya Barrera, Carmen Rodriguez, Pilar Iranzo

Journal:

Acta Neuropathologica

Year:

2006

Language:

english

File:

PDF, 772 KB

english, 2006

16

GermlineATMmutational analysis inBRCA1/BRCA2negative hereditary breast cancer families by MALDI-TOF mass spectrometry

B. Graña, L. Fachal, E. Darder, J. Balmaña, T. Ramón y Cajal, I. Blanco, A. Torres, C. Lázaro, O. Diez, C. Alonso, M. Santamariña, A. Velasco, A. Teulé, A. Lasa, A. Blanco, A. Izquierdo, J. Borràs, S.

Journal:

Breast Cancer Research and Treatment

Year:

2011

Language:

english

File:

PDF, 290 KB

english, 2011

17

Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN

A Blanco, B Graña, L Fachal, M Santamariña, J Cameselle-Teijeiro, C Ruíz-Ponte, Á Carracedo, A Vega

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 476 KB

english, 2010

18

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

P Whiley, LC Walker, kConFab, M De LA Hoya, B Wappenschmidt, A Becker, A Blanco, MJ Blok, MA Caligo, C Chatfield, F Couch, O Diez, L Fachal, L Guidugli, S Gutiérrez Enríquez, T Hansen, C Houdayer, S I

Journal:

Hereditary Cancer in Clinical Practice

Year:

2012

Language:

english

File:

PDF, 82 KB

english, 2012

19

Significance of DNA quantification in testicular germ cell tumors

Dr. J. Codesal, R. Paniagua, J. Regadera, C. Fachal, M. Nistal

Journal:

Year:

1991

Language:

english

File:

PDF, 457 KB

english, 1991

20

Synthesis and characterization of biologically active recombinant elk and horse FSH

María Victoria Fachal, Mike Furlan, Rena Clark, Claire E. Card, P. Jorge Chedrese

Journal:

Animal Reproduction Science

Year:

2010

Language:

english

File:

PDF, 432 KB

english, 2010

21

Sarcoidosis hipopigmentada

Francisco Allegue, Ángel Aranda, Carmen Fachal

Journal:

Medicina Clínica

Year:

2009

File:

PDF, 274 KB

2009

22

TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients

Laura Fachal, Antonio Gómez-Caamaño, Manuel Sánchez-García, Ana Carballo, Paula Peleteiro, Ramón Lobato-Busto, Ángel Carracedo, Ana Vega

Journal:

Radiotherapy and Oncology

Year:

2012

Language:

english

File:

PDF, 164 KB

english, 2012

23

Psoriasis tras herpes zóster: respuesta isotópica de Wolf

F. Allegue, C. Fachal, M. Romo, M.I. López-Miragaya, S. Pérez

Journal:

Actas Dermo-Sifiliográficas (Spanish Edition)

Year:

2007

File:

PDF, 444 KB

2007

24

Localized green pigmentation in a patient with hyperbilirubinemia

F. Allegue, J.A. Hermo, C. Fachal, N. Alfonsi´n

Journal:

Journal of the American Academy of Dermatology

Year:

1996

Language:

english

File:

PDF, 1.70 MB

english, 1996

25

Lower lip cancer: Surgery and reconstruction

C. Rodríguez-Cerdeira, X.C. Braña, R. Trillo, C. Fachal

Journal:

Journal of the European Academy of Dermatology and Venereology

Year:

1998

Language:

english

File:

PDF, 116 KB

english, 1998

26

CHEK2c.1100delC mutation among non-BRCA1/2Spanish hereditary breast cancer families

L. Fachal, M. Santamariña, A. Blanco, Á. Carracedo, A. Vega

Journal:

Clinical and Translational Oncology

Year:

2013

Language:

english

File:

PDF, 216 KB

english, 2013

27

PD-0531 SNPS IN DNA REPAIR AND DAMAGE DETECTION GENES AND ACUTE NORMAL TISSUE TOXICITY IN PROSTATE CANCER PATIENTS

L. Fachal, A. Gómez-Caamaño, P. Peleteiro, A. Carballo, P. Calvo-Crespo, M. Sánchez-García, B. Taboada-Valladares, R. Lobato-Busto, A. Carracedo, A. Vega

Journal:

Radiotherapy and Oncology

Year:

2012

Language:

english

File:

PDF, 66 KB

english, 2012

28

Psoriasis at the Site of Healed Herpes Zoster: Wolf's Isotopic Response

F. Allegue, C. Fachal, M. Romo, M.I. López-Miragaya, S. Pérez

Journal:

Actas Dermo-Sifiliográficas (English Edition)

Year:

2007

Language:

english

File:

PDF, 155 KB

english, 2007

29

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis

Laura Fachal, Laura Rodríguez-Pazos, Manuel Ginarte, Andrés Beiras, José M. Suárez-Peñaranda, Jaime Toribio, Ángel Carracedo, Ana Vega

Journal:

International Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 454 KB

english, 2012

30

Effect of nanotubes on the thermal stability of polystyrene

Rios-Fachal, M., Gracia-FernÃ¡ndez, C., LÃ³pez-Beceiro, J., GÃ³mez-Barreiro, S., TarrÃo-Saavedra, J., Ponton, A., Artiaga, R.

Journal:

Journal of Thermal Analysis and Calorimetry

Year:

2013

Language:

english

File:

PDF, 635 KB

english, 2013

31

Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients

Fachal, Laura, GÃ³mez-CaamaÃ±o, Antonio, Peleteiro, Paula, Carballo, Ana, Calvo-Crespo, Patricia, SÃ¡nchez-GarcÃa, Manuel, Lobato-Busto, RamÃ³n, Carracedo, Ãngel, Vega, Ana

Journal:

Radiotherapy and Oncology

Year:

2012

Language:

english

File:

PDF, 267 KB

english, 2012

32

Optimizing fitting parameters in thermogravimetry

Ríos-Fachal, Matilde, Tarrío-Saavedra, Javier, López-Beceiro, Jorge, Naya, Salvador, Artiaga, Ramón

Journal:

Journal of Thermal Analysis and Calorimetry

Year:

2014

Language:

english

File:

PDF, 865 KB

english, 2014

33

Evaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicity

Fachal, Laura, Mosquera-Miguel, Ana, Gómez-Caamaño, Antonio, Sánchez-García, Manuel, Calvo, Patricia, Lobato-Busto, Ramón, Salas, Antonio, Vega, Ana

Journal:

Radiotherapy and Oncology

Year:

2014

Language:

english

File:

PDF, 466 KB

english, 2014

34

Radiotoxicity in prostate cancer: The first radiogenomic Spanish GWAS

Fachal, L., Gómez-caamaño, A., Sánchez-garcía, M., León, L., Carballo, A., Peleteiro, P., Calvo, P., Taboada, B., Lobato-busto, R., Carracedo, Á., Vega, A.

Journal:

Reports of Practical Oncology & Radiotherapy

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

35

Metaplasia intestinal en la unión esofagogástrica. Prevalencia y asociaciones en una población sometida a endoscopia

de Castro, M.L., Fachal, C., Pineda, J.R., Domínguez, F., Prada, J.I.R., Hermo, J.A., Suso, J., Clofent, J.

Journal:

Gastroenterología y Hepatología

Year:

2002

File:

PDF, 53 KB

2002

36

A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity

Barnett, Gillian C., Thompson, Deborah, Fachal, Laura, Kerns, Sarah, Talbot, Chris, Elliott, Rebecca M., Dorling, Leila, Coles, Charlotte E., Dearnaley, David P., Rosenstein, Barry S., Vega, Ana, Symo

Journal:

Radiotherapy and Oncology

Year:

2014

Language:

english

File:

PDF, 970 KB

english, 2014

37

Lesiones móviles subcutáneas

Fachal Bermúdez, Carmen, Allegue Rodríguez, Francisco

Journal:

Year:

2003

File:

PDF, 51 KB

2003

38

Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer

Kerns, Sarah L., Stock, Richard G., Stone, Nelson N., Blacksburg, Seth R., Rath, Lynda, Vega, Ana, Fachal, Laura, Gómez-Caamaño, Antonio, De Ruysscher, Dirk, Lammering, Guido, Parliament, Matthew, Bla

Journal:

Radiotherapy and Oncology

Year:

2013

Language:

english

File:

PDF, 248 KB

english, 2013

39

Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis

Fachal, L., Rodríguez-Pazos, L., Ginarte, M., Carracedo, A., Toribio, J., Vega, A.

Journal:

British Journal of Dermatology

Year:

2014

Language:

english

File:

PDF, 277 KB

english, 2014

40

Possession of the ATM Codon 1853 SNP is Associated With an Increased Risk for Radiation-Induced Toxicity

Andreassen, C.N., Kerns, S., Rosenstein, B., Barnett, G., Fachal, L., Vega, A., Talbot, C., De Ruyck, K., Parliament, M., Koch, A., Gutiérrez-Enríquez, S., Chang-Claude, J., Yarnold, J., Bentzen, S.,

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

41

Identification of a Locus at 2q24 Associated With Susceptibility for Late Radiation Therapy Toxicity Through Performance of a 3-Stage Genome-Wide Association Study

Fachal, L., Gomez-Caamaño, A., Barnett, G., Kerns, S., Rosenstein, B., West, C., Dunning, A., Vega, A.

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

42

No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort

Fachal, Laura, Gómez-Caamaño, Antonio, Álvarez Iglesias, Vanesa, Gómez Carballa, Alberto, Calvo, Patricia, Salas, Antonio, Vega, Ana

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 502 KB

english, 2014

43

Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers

Zugazagoitia, Jon, Pérez-Segura, Pedro, Manzano, Arancha, Blanco, Ignacio, Vega, Ana, Custodio, Ana, Teulé, Alex, Fachal, Laura, Martínez, Beatriz, González-Sarmiento, Rogelio, Cruz-Hernández, Juan Je

Journal:

Breast Cancer Research and Treatment

Year:

2014

Language:

english

File:

PDF, 227 KB

english, 2014

44

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

Fachal, Laura, Mosquera-Miguel, Ana, Pastor, Pau, Ortega-Cubero, Sara, Lorenzo, Elena, Oterino-Durán, Agustín, Toriello, María, Quintáns, Beatriz, Camiña-Tato, Montse, Sesar, Angel, Vega, Ana, Sobrido

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2015

Language:

english

File:

PDF, 506 KB

english, 2015

45

From candidate gene studies to GWAS and post-GWAS analyses in breast cancer

Fachal, Laura, Dunning, Alison M

Journal:

Current Opinion in Genetics & Development

Year:

2015

Language:

english

File:

PDF, 469 KB

english, 2015

46

Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation: A 4-year follow-up study

Navarro, C., Fernandez, J. M., Dominguez, C., Fachal, C., Alvarez, M.

Journal:

Year:

1996

Language:

english

File:

PDF, 556 KB

english, 1996

47

Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome

Cameselle-Teijeiro, J., Fachal, C., Cabezas-Agricola, J. M., Alfonsin-Barreiro, N., Abdulkader, I., Vega-Gliemmo, A., Hermo, J. A.

Journal:

American Journal of Clinical Pathology

Year:

2015

Language:

english

File:

PDF, 9.04 MB

english, 2015

48

OC-0054: A three stage genome wide association study reveals susceptibility for late radiotherapy toxicity at the 2q24 locus

Fachal, L., Gomez-Caamaño, A., Barnett, G., Kerns, S., Rosenstein, B., West, C., Dunning, A., Vega, A., On behalf of RADIOGEN,, RAPPER,

Journal:

Radiotherapy and Oncology

Year:

2014

Language:

english

File:

PDF, 90 KB

english, 2014

49

OC-0142: Radiogenomics consortium meta-analysis of genome wide association studies of prostate radiotherapy late toxicity

Kerns, S., Barnett, G., Dorling, L., Fachal, L., Burnet, N., Ostrer, H., Parliament, M., Rosenstein, B., Vega, A., West, C.

Journal:

Radiotherapy and Oncology

Year:

2014

Language:

english

File:

PDF, 161 KB

english, 2014

50

Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity

Ahmed, Mahbubl, Dorling, Leila, Kerns, Sarah, Fachal, Laura, Elliott, Rebecca, Partliament, Matt, Rosenstein, Barry S, Vega, Ana, Gómez-Caamaño, Antonio, Barnett, Gill, Dearnaley, David P, Hall, Emma,

Journal:

British Journal of Cancer

Year:

2016

Language:

english

File:

PDF, 284 KB

english, 2016

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