Raquel Borrego: search on Z-Library

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1

Errorless Learning Therapy in Semantic Variant of Primary Progressive Aphasia

Montagut, NÃºria, Borrego-Ãcija, Sergi, CastellvÃ, Magdalena, Rico, Immaculada, ReÃ±Ã©, RamÃ³n, Balasa, Mircea, LladÃ³, Albert, SÃ¡nchez-Valle, Raquel

Journal:

Journal of Alzheimer's Disease

Year:

2021

File:

PDF, 272 KB

2021

2

Employment and the Risk of Domestic Violence: Does the Breadwinner's Gender Matter?

Alonso-Borrego, Cesar, Carrasco, Raquel

Journal:

SSRN Electronic Journal

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

3

Alpha-synuclein Aggregates in Labial Salivary Glands of Idiopathic Rapid Eye Movement Sleep Behavior Disorder

Iranzo, Alx, Borrego, Sergi, Vilaseca, Isabel, Martí, Carles, Serradell, Mónica, Sánchez-Valle, Raquel, Kovacs, Gabor G, Valldeoriola, Francesc, Gaig, Carles, Santamaria,, Joan, Tolosa, Eduard, Gelpi,

Journal:

Year:

2018

Language:

english

File:

PDF, 632 KB

english, 2018

4

Palbociclib combined with endocrine therapy in heavily pretreated HR+/HER2- advanced breast cancer patients: Results from the compassionate use program in Spain (PALBOCOMP)

Manso, Luis, Hernando, Cristina, GalÃ¡n, MarÃa, Oliveira, Mafalda, Cabrera, Miguel A., Bratos, Raquel, RodrÃguez, CÃ©sar A., Ruiz-Borrego, Manuel, Blanch, Salvador, Llombart-Cussac, Antonio, Delgado

Journal:

Year:

2020

File:

PDF, 751 KB

2020

5

Congenital neurosyphilis – Authors' reply

Silva, Sónia, Henriques, Raquel, Borrego, Maria José, Gomes, João Paulo, Afonso, Eulália

Journal:

The Lancet Infectious Diseases

Year:

2013

Language:

english

File:

PDF, 42 KB

english, 2013

6

Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients

Luzón-Toro, Berta, Torroglosa, Ana, Núñez-Torres, Rocío, Enguix-Riego, María Valle, Fernández, Raquel María, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud, Cherny, Stacey

Journal:

Year:

2012

Language:

english

File:

PDF, 262 KB

english, 2012

7

Evaluation of Germline Sequence Variants of GFRA1 , GFRA2 , and GFRA3 Genes in a Cohort of Spanish Patients with Sporadic Medullary Thyroid Cancer

Borrego, Salud, Fernández, Raquel M., Dziema, Heather, Japón, Miguel A., Marcos, Irene, Eng, Charis, Antiñolo, Guillermo

Journal:

Year:

2002

Language:

english

File:

PDF, 170 KB

english, 2002

8

Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical Overview

Fernández, Raquel María, Peciña, Ana, Lozano-Arana, Maria Dolores, Sánchez, Beatriz, Guardiola, Jordi, García-Lozano, Juan Carlos, Borrego, Salud, Antiñolo, Guillermo

Journal:

BioMed Research International

Year:

2014

Language:

english

File:

PDF, 184 KB

english, 2014

9

Tauopathy with Hippocampal 4-Repeat Tau Immunoreactive Spherical Inclusions in a Patient with PSP

Borrego-Écija, Sergi, Grau-Rivera, Oriol, Colom-Cadena, Martí, Molinuevo, José Luis, Tolosa, Eduard, Sánchez-Valle, Raquel, Gelpi, Ellen

Journal:

Brain Pathology

Year:

2018

Language:

english

File:

PDF, 294 KB

english, 2018

10

Occupational radiation exposure and glaucoma and macular degeneration in the US radiologic technologists

Little, Mark P., Kitahara, Cari M., Cahoon, Elizabeth K., Bernier, Marie-Odile, Velazquez-Kronen, Raquel, Doody, Michele M., Borrego, David, Miller, Jeremy S., Alexander, Bruce H., Simon, Steven L., P

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

11

Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of -Thalassemia

Fernández, Raquel M., Peciña, Ana, Lozano-Arana, Maria Dolores, García-Lozano, Juan Carlos, Borrego, Salud, Antiñolo, Guillermo

Journal:

BioMed Research International

Year:

2013

Language:

english

File:

PDF, 2.65 MB

english, 2013

12

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

Luzón-Toro, Berta, Fernández, Raquel M., Torroglosa, Ana, de Agustín, Juan Carlos, Méndez-Vidal, Cristina, Segura, Dolores Isabel, Antiñolo, Guillermo, Borrego, Salud, Cherny, Stacey

Journal:

Year:

2013

Language:

english

File:

PDF, 5.27 MB

english, 2013

13

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

Fernández, Raquel María, Mathieu, Yves, Luzón-Toro, Berta, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Amiel, Jeanne, Borrego, Salud, Veitia, Reiner Albert

Journal:

Year:

2013

Language:

english

File:

PDF, 372 KB

english, 2013

14

Waardenburg syndrome type 4: Report of two new cases caused by SOX 10 mutations in Spain

Fernández, Raquel M., Núñez-Ramos, Raquel, Enguix-Riego, Mª Valle, Román-Rodríguez, Francisco José, Galán-Gómez, Enrique, Blesa-Sánchez, Emilio, Antiñolo, Guillermo, Núñez-Núñez, Ramón, Borrego, Salud

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 445 KB

english, 2014

15

Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system

Torroglosa, Ana, Enguix-Riego, María Valle, Fernández, Raquel María, Román-Rodriguez, Francisco José, Moya-Jiménez, María José, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 818 KB

english, 2014

16

Development and characterization of monoclonal antibodies against Rift Valley fever virus nucleocapsid protein generated by DNA immunization

Martín-Folgar, Raquel, Lorenzo, Gema, Boshra, Hani, Iglesias, Javier, Mateos, Francisco, Borrego, Belén, Brun, Alejandro

Journal:

Year:

2010

Language:

english

File:

PDF, 1.64 MB

english, 2010

17

Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population

Agustín Ruiz, Guillermo Antiñolo, Raquel M. Fernández, Charis Eng, Irene Marcos, Salud Borrego

Journal:

Clinical Endocrinology

Year:

2001

Language:

english

File:

PDF, 59 KB

english, 2001

18

A novel germline point mutation, c.2304 G→T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma

Guillermo Antiñolo, Irene Marcos, Raquel María Fernández, Matilde Romero, Salud Borrego

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 94 KB

english, 2002

19

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease

Macarena Ruiz-Ferrer, Raquel M. Fernandez, Guillermo Antiñolo, Manuel Lopez-Alonso, Salud Borrego

Journal:

Journal of Pediatric Surgery

Year:

2008

Language:

english

File:

PDF, 92 KB

english, 2008

20

Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model

Alves, Maria M., Sribudiani, Yunia, Brouwer, Rutger W.W., Amiel, Jeanne, Antiñolo, Guillermo, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Fernández, Raquel M., Garcia-Barcelo, Maria-M

Journal:

Developmental Biology

Year:

2013

Language:

english

File:

PDF, 1.68 MB

english, 2013

21

A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain)

Palencia-Madrid, Leire, Sánchez-Valle, Raquel, Fernández de Retana, Ierai, Borrego, Sergi, Grau-Rivera, Oriol, Reñé, Ramón, Hernández, Isabel, Almenar, Consuelo, Rossi, Giacomina, Caroppo, Paola, Reda

Journal:

Neurobiology of Aging

Year:

2019

Language:

english

File:

PDF, 911 KB

english, 2019

22

Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene

Raquel M. Fernández, Rocío Núñez-Torres, Lutgardo García-Díaz, Juan Carlos de Agustín, Guillermo Antiñolo, Salud Borrego

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 316 KB

english, 2012

23

Tricoepitelioma múltiple familiar asociado a cilindroma y espiradenoma. Síndrome de Brooke-Spiegler

Hernando, Leopoldo Borrego, Díaz, Raquel Rivera, López Estebaranz, José Luis, Moraleda, Fernando Pinedo, Franjo, Purificación Domínguez

Journal:

Actas Dermo-Sifiliográficas (Spanish Edition)

Year:

2002

File:

PDF, 321 KB

2002

24

Comprehensive analysis ofRETcommon and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

Rocio Núñez-Torres, Raquel M Fernández, Manuel Jesus Acosta, Maria del Valle Enguix-Riego, Martina Marbá, Juan Carlos de Agustín, Luis Castaño, Guillermo Antiñolo, Salud Borrego

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 294 KB

english, 2011

25

A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma

Salud Borrego, Fred A. Wright, Raquel M. Fernández, Nita Williams, Manuel López-Alonso, Ramana Davuluri, Guillermo Antiñolo, Charis Eng

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 675 KB

english, 2003

26

Analysis of RET Polymorphisms and Haplotypes in the Context of Sporadic Medullary Thyroid Carcinoma

Fernández, Raquel M., Peciña, Ana, Antiñolo, Guillermo, Navarro, Elena, Borrego, Salud

Journal:

Year:

2006

Language:

english

File:

PDF, 1.08 MB

english, 2006

27

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes

Ruiz-Ferrer, Macarena, Fernández, Raquel M, Antiñolo, Guillermo, López-Alonso, Manuel, Eng, Charis, Borrego, Salud

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 869 KB

english, 2006

28

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

Avencia Sánchez-Mejías, Rocio Núñez-Torres, Raquel M Fernández, Guillermo Antiñolo, Salud Borrego

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 600 KB

english, 2010

29

Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations

Fernández, Raquel M., Sánchez, Javier, García-Díaz, Lutgardo, Peláez-Nora, Yolanda, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 680 KB

english, 2016

30

Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

Villalba-Benito, Leticia, Torroglosa, Ana, Fernández, Raquel María, Ruíz-Ferrer, Macarena, Moya-Jiménez, María José, Antiñolo, Guillermo, Borrego, Salud

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

31

Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview

Fernández, Raquel M., Peciña, Ana, Sánchez, Beatriz, Lozano-Arana, Maria Dolores, García-Lozano, Juan Carlos, Pérez-Garrido, Rosario, Núñez, Ramiro, Borrego, Salud, Antiñolo, Guillermo

Journal:

BioMed Research International

Year:

2015

Language:

english

File:

PDF, 1.63 MB

english, 2015

32

Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases

Borrego-Écija, Sergi, Cortés-Vicente, Elena, Cervera-Carles, Laura, Clarimón, Jordi, Gámez, Josep, Batlle, Jordi, Ricken, Gerda, Molina-Porcel, Laura, Aldecoa, Iban, Sánchez-Valle, Raquel, Rojas-Garcí

Journal:

Neuropathology and Applied Neurobiology

Year:

2018

Language:

english

File:

PDF, 805 KB

english, 2018

33

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

Jannot, Anne-Sophie, Amiel, Jeanne, Pelet, Anna, Lantieri, Francesca, Fernandez, Raquel M, Verheij, Joke B G M, Garcia-Barcelo, Merce, Arnold, Stacey, Ceccherini, Isabella, Borrego, Salud, Hofstra, Ro

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 220 KB

english, 2012

34

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung’s disease

Macarena Ruiz-Ferrer, Ana Torroglosa, Berta Luzón-Toro, Raquel M. Fernández, Guillermo Antiñolo, Lois M. Mulligan, Salud Borrego

Journal:

Journal of Molecular Medicine

Year:

2011

Language:

english

File:

PDF, 309 KB

english, 2011

35

Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease

Raquel M. Fernandez, Macarena Ruiz-Ferrer, Manuel Lopez-Alonso, Guillermo Antiñolo, Salud Borrego

Journal:

Journal of Pediatric Surgery

Year:

2008

Language:

english

File:

PDF, 113 KB

english, 2008

36

A school-based intervention for a better future: study protocol of Sintra Grows Healthy

Ferreira, Raquel J., Nogueira, Telma, Dias da Silva, VitÃ³ria, LiÃ±an Pinto, Mariana, Sousa, Joana, Pereira, Ana Margarida, Nogueira, Paulo Jorge, Borrego, Rute, Raposo, Ana, Martins, JoÃ£o, Onofre, M

Journal:

BMC Public Health

Year:

2020

File:

PDF, 782 KB

2020

37

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

Raquel M Fernández, Rocío Núñez-Torres, Antonio González-Meneses, Guillermo Antiñolo, Salud Borrego

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 859 KB

english, 2010

38

Total and new production in the Gulf of California estimated from ocean color data from the satellite sensor SeaWIFS

Raquel M. Hidalgo-González, Saúl Alvarez-Borrego

Journal:

Deep Sea Research Part II: Topical Studies in Oceanography

Year:

2004

Language:

english

File:

PDF, 417 KB

english, 2004

39

Inhibition of CD28-mediated natural cytotoxicity by KIR2DL2 does not require p56lck in the NK cell line YT-Indy

Raquel Tarazona, Francisco Borrego, Maria D Galiani, Enrique Aguado, Jose Peña, John E Coligan, Rafael Solana

Journal:

Molecular Immunology

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

40

Development of RisObIn.Com, a Screening Tool for Risk of Childhood Obesity in the Community

Moreira, Ana Catarina, Almeida Oliveira, PatrÃcia, Borrego, Rute, Nogueira, Telma, Ferreira, Raquel, Virella, Daniel

Journal:

Year:

2020

File:

PDF, 661 KB

2020

41

Editorial: NK Cell-Based Cancer Immunotherapy

Borrego, Francisco, Larrucea, Susana, Solana, Rafael, Tarazona, Raquel

Journal:

Frontiers in Immunology

Year:

2016

Language:

english

File:

PDF, 110 KB

english, 2016

42

Characterization of the aroma profile and key odorants of the Spanish PDO wine vinegars

Ríos-Reina, Rocío, Segura-Borrego, M. Pilar, Morales, M. Lourdes, Callejón, Raquel M.

Journal:

Year:

2020

File:

PDF, 1.47 MB

2020

43

What is new about the genetic background of Hirschsprung disease?

Luzón‐Toro, Berta, Villalba‐Benito, Leticia, Torroglosa, Ana, Fernández, Raquel M, Antiñolo, Guillermo, Borrego, Salud

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 2.24 MB

english, 2019

44

Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease

Torroglosa, Ana, Villalba-Benito, Leticia, FernÃ¡ndez, Raquel MarÃa, LuzÃ³n-Toro, Berta, Moya-JimÃ©nez, MarÃa JosÃ©, AntiÃ±olo, Guillermo, Borrego, Salud

Journal:

International Journal of Molecular Sciences

Year:

2020

File:

PDF, 747 KB

2020

45

The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes

Raquel M. Fernández, Guillermo Antiñolo, Charis Eng, Salud Borrego

Journal:

Year:

2003

Language:

english

File:

PDF, 105 KB

english, 2003

46

Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome

Sánchez, Javier, Fernández, Raquel, Madruga, Marcos, Bernabeu-Wittel, José, Antiñolo, Guillermo, Borrego, Salud

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 466 KB

english, 2014

47

Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient

Fernández, Raquel M., Peciña, Ana, Muñoz-Cabello, Beatriz, Antiñolo, Guillermo, Borrego, Salud

Journal:

Clinical Case Reports

Year:

2016

Language:

english

File:

PDF, 2.33 MB

english, 2016

48

Involvement ofSOX10in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

Avencia Sánchez-Mejías, Yuli Watanabe, Raquel M. Fernández, Manuel López-Alonso, Guillermo Antiñolo, Nadege Bondurand, Salud Borrego

Journal:

Journal of Molecular Medicine

Year:

2010

Language:

english

File:

PDF, 265 KB

english, 2010

49

ESR2 gene and Medullary Thyroid Carcinoma

Ruiz-Ferrer, Macarena, Fernández, Raquel M, Navarro, Elena, Antinolo, Guillermo, Borrego, Salud

Journal:

Year:

2017

Language:

english

File:

PDF, 148 KB

english, 2017

50

Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients

Fernández, Raquel María, Lozano-Arana, María Dolores, Sánchez, Beatriz, Peciña, Ana, García-Lozano, Juan Carlos, Borrego, Salud, Antiñolo, Guillermo

Journal:

BioMed Research International

Year:

2017

Language:

english

File:

PDF, 1.17 MB

english, 2017

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