Perez Gonzalez, Maria Belen belen.perez@uam.es

Publications

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice

  • Martínez-Pizarro A
  • Picó S
  • López-Márquez A
  • Rodriguez-López C
  • Montalvo E
  • Alvarez M
  • Castro M
  • Ramón-Maiques S
  • Pérez B
  • Lucas JJ
  • Richard E
  • Desviat LR
... View more Collapse

Human Molecular Genetics (p. 1074-1089) - 5/6/2024

10.1093/hmg/ddae051 View at source

  • ISSN 14602083

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

  • Gallego, Diana
  • Serrano, Mercedes
  • Cordoba-Caballero, Jose
  • Gamez, Alejandra
  • Seoane, Pedro
  • Perkins, James R
  • Ranea, Juan A G
  • Perez, Belen
... View more Collapse

Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 24/4/2024

10.1016/j.bbadis.2024.167163

  • ISSN 09254439
  • iMarina

Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.

  • Arribas-Carreira L
  • Castro M
  • García F
  • Navarrete R
  • Bravo-Alonso I
  • Zafra F
  • Ugarte M
  • Richard E
  • Pérez B
  • Rodríguez-Pombo P
... View more Collapse

International Journal Of Molecular Sciences - 28/2/2024

10.3390/ijms25052814

  • ISSN 14220067
  • iMarina

An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis

  • Martin, Juan Cruz Herrero
  • Ansa, Benat Salegi
  • Alvarez-Rivera, Gerardo
  • Dominguez-Zorita, Sonia
  • Rodriguez-Pombo, Pilar
  • Perez, Belen
  • Calvo, Enrique
  • Miguez, David G
  • Cifuentes, Alejandro
  • Cuezva, Jose M
  • Formentini, Laura
... View more Collapse

Nature Metabolism (p. 209-+) - 1/2/2024

10.1038/s42255-023-00956-y View at source

  • ISSN 25225812

Exploring miRNA-target gene pair detection in disease with coRmiT.

  • Cordoba-Caballero, Jose
  • Perkins, James R
  • Garcia-Criado, Federico
  • Gallego, Diana
  • Navarro-Sanchez, Alicia
  • Moreno-Estelles, Mireia
  • Garces, Concepcion
  • Bonet, Fernando
  • Roma-Mateo, Carlos
  • Toro, Rocio
  • Perez, Belen
  • Sanz, Pascual
  • Kohl, Matthias
  • Rojano, Elena
  • Seoane, Pedro
  • Ranea, Juan A G
... View more Collapse

Briefings In Bioinformatics - 22/1/2024

10.1093/bib/bbae060

  • ISSN 14675463
  • iMarina

Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase (PPCDC) cause autosomal-recessive dilated cardiomyopathy

  • Bravo-Alonso, I.
  • Morín, M.
  • Arribas-Carreira, L.
  • Álvarez, M.
  • Pedrón-Giner, C.
  • Soletto, L.
  • Santolaria, C.
  • Ramón-Maiques, S.
  • Ugarte, M.
  • Rodríguez-Pombo, P.
  • Ariño, J.
  • Moreno-Pelayo, M.A.
  • Pérez, B.
... View more Collapse

Journal Of Inherited Metabolic Disease (p. 261-272) - 1/3/2023

10.1002/jimd.12584

  • ISSN 01418955
  • iMarina

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy

  • Álvarez, M.
  • Ruiz-Sala, P.
  • Pérez, B.
  • Desviat, L.R.
  • Richard, E.

International Journal Of Molecular Sciences - 1/2/2023

10.3390/ijms24032182 View at source

  • ISSN 14220067

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

  • Himmelreich, N.
  • Bertoldi, M.
  • Alfadhel, M.
  • Alghamdi, M.A.
  • Anikster, Y.
  • Bao, X.
  • Bashiri, F.A.
  • Zeev, B.B.
  • Bisello, G.
  • Ceylan, A.C.
  • Chien, Y.H.
  • Choy, Y.S.
  • Elsea, S.H.
  • Flint, L.
  • García-Cazorla, A.
  • Gijavanekar, C.
  • Gümüş, E.Y.
  • Hamad, M.H.
  • Hişmi, B.
  • Honzik, T.
  • Hübschmann, O.K.
  • Hwu, W.L.
  • Ibáñez-Micó, S.
  • Jeltsch, K.
  • Juliá-Palacios, N.
  • Kasapkara, Ç.S.
  • Kurian, M.A.
  • Kusmierska, K.
  • Liu, N.;...
... View more Collapse

Molecular Genetics And Metabolism - 1/1/2023

10.1016/j.ymgme.2023.107624 View at source

  • ISSN 10967192

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (Molecular Genetics and Metabolism (2023) 139(3), (S1096719223002548), (10.1016/j.ymgme.2023.107624))

  • Himmelreich, N.
  • Bertoldi, M.
  • Alfadhel, M.
  • Alghamdi, M.A.
  • Anikster, Y.
  • Bao, X.
  • Bashiri, F.A.
  • Zeev, B.B.
  • Bisello, G.
  • Ceylan, A.C.
  • Chien, Y.H.
  • Choy, Y.S.
  • Elsea, S.H.
  • Flint, L.
  • García-Cazorla, A.
  • Gijavanekar, C.
  • Gümüş, E.Y.
  • Hamad, M.H.
  • Hişmi, B.
  • Honzik, T.
  • Kuseyri Hübschmann, O.
  • Hwu, W.L.
  • Ibáñez-Micó, S.
  • Jeltsch, K.
  • Juliá-Palacios, N.
  • Kasapkara, Ç.S.
  • Kurian, M.A.
  • Kusmierska, K.;...
... View more Collapse

Molecular Genetics And Metabolism - 1/1/2023

10.1016/j.ymgme.2023.107647 View at source

  • ISSN 10967192

A crowdsourcing database for the copy-number variation of the Spanish population

  • López-López D
  • Roldán G
  • Fernández-Rueda JL
  • Bostelmann G
  • Carmona R
  • Aquino V
  • Perez-Florido J
  • Ortuño F
  • Pita G
  • Núñez-Torres R
  • González-Neira A
  • Alonso A
  • Salgado-Garrido J
  • Pasalodos-Sanchez S
  • Ayuso C
  • Minguez P
  • Avila-Fernandez A
  • Corton M
  • Artuch R
  • Borrego S
  • Antiñolo G
  • Carracedo A
  • Amigo J
  • Castaño LA
  • Tejada I
  • Delmiro A
  • Espinos C
  • Grinberg D
  • Guillén E
  • Lapunzina P
  • Lopez-Escámez JA
  • Gallego-Martinez A
  • Martí R
  • Rovira E
  • Millán JM
  • Moreno MA
  • Morin M
  • Moreno-Galdó A
  • Fernández-Cancio M
  • Morte B
  • Mulero V
  • García D
  • Nunes V
  • Palau F
  • Perez B
  • Jurado LP
  • Perona R
  • Pujol A
  • Ramos F
  • Lopez E
  • Ribes A
  • Rosell J
  • Surrallés J
  • Peña-Chilet M
  • Dopazo J
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Human Genomics - 1/1/2023

10.1186/s40246-023-00466-8 View at source

  • ISSN 14797364

This researcher has no books.

Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers

  • Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C

JIMD Reports (p. 63-74) - 1/1/2018

Editor: Springer

10.1007/8904_2017_40 View at source

  • ISSN 21928304
  • ISSN/ISBN 2192-8312

Protocolo de diagnóstico y tratamiento de los defectos congénitos de glicosilación

  • Pérez-Cerdá Silvestre, Celia
  • Girós Blasco, M
  • Serrano, Mercedes
  • Pérez Dueñas, Belén
  • Ecay, María Jesús
  • Medrano, Celia
  • Gort Mas, Laura
  • Pérez González, María Belén
... View more Collapse

Protocolos De Diagnóstico Y Tratamiento De Los Errores Congénitos Del Metabolismo (p. 271-290) - 1/1/2018

  • iMarina

Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

  • Vitoria, I
  • Martin-Hernandez, E
  • Pena-Quintana, L
  • Bueno, M
  • Quijada-Fraile, P
  • Dalmau, J
  • Molina-Marrero, S
  • Perez, B
  • Merinero, B
... View more Collapse

Jimd Reports (p. 11-20) - 1/1/2015

10.1007/8904_2014_382 View at source

  • ISSN 21928304

Minigenes to confirm exon skipping mutations

  • Desviat LR, Pérez B, Ugarte M

Methods In Molecular Biology (p. 37-47) - 23/4/2012

10.1007/978-1-61779-767-5_3 View at source

  • ISSN 10643745

RNA-Based Therapies for Inherited Metabolic Diseases

  • Pérez B
  • Ugarte M
  • Desviat LR

Rna Technologies (p. 357-370) - 1/1/2012

10.1007/978-3-642-27426-8_14 View at source

  • ISSN 21979731

Mitochondrial organic acidurias. Part II: Mitochondrial dysfunction

  • Richard, Eva
  • Rodríguez Pombo, Pilar
  • Ruiz Desviat, Lourdes
  • Pérez González, María Belén
  • Merinero, B
  • Pérez-Cerdá, Celia
  • Ugarte Pérez, Magdalena
... View more Collapse

Mitochondrial Pathophysiology (p. 173,191-191) - 1/1/2011

  • iMarina

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

  • Casado M., O'Callaghan M., Montero R., Pérez-Cerda C., Pérez B., Briones P., Quintana E., Muchart J., Aracil A., Pineda M., Artuch R.

Cerebellum (p. 557-563) - 1/6/2012

10.1007/s12311-011-0313-y View at source

  • ISSN 14734222

EXPANDING OUR KNOWLEDGE OF CONGENITAL DISORDER OF GLYCOSYLATION-DPAGT1 TYPE

  • Pascual Pascual, Samuel Ignacio
  • Perez Villacastin, Benjamin
  • Perez, B
  • Vega, A
  • Medrano, C
  • Martin-Higueras, C
  • Pascual, S, I
  • Arroyo, I
  • Domingo, R
  • Artuch, R
  • Briones, P
  • Ugarte, M
  • Perez-Cerda, C
... View more Collapse

Journal Of Inherited Metabolic Disease (p. S113-S113) - 1/1/2012

  • ISSN 01418955
  • iMarina

Association of cerebrospinal fluid homovanillic acid and neurological diseases

  • Perez Villacastin, Benjamin
  • Molero, M
  • Serrano, M
  • Ortez, C
  • Ormazabal, A
  • Tondo, M
  • Perez-Duenas, B
  • Perez, B
  • Lopez-Laso, E
  • Garcia-Silva, M T
  • Pineda, M
  • Campistol, J
  • Garcia-Cazorla, A
  • Artuch, R
... View more Collapse

Journal Of Inherited Metabolic Disease (p. S131-S131) - 1/1/2011

  • ISSN 01418955
  • iMarina

MILD HOMOCYSTEINEMIA AND METHYLMALONIC ACIDURIA IN A CASE WITH PANCYTOPENIA DUE TO TRANSCOBALAMIN II DEFICIENCY

  • Perez Villacastin, Benjamin
  • Merinero, B
  • Lama, R
  • Morais, A
  • Ruiz Sala, P
  • Sanz, P
  • Castro, M
  • Garcia, M J
  • Leal, F
  • Perez-Cerda, C
  • Perez, B
  • Ugarte, M
... View more Collapse

Journal Of Inherited Metabolic Disease (p. S158-S158) - 1/1/2010

  • ISSN 01418955
  • iMarina

Study of the C677T polymorphism and plasma homocysteine levels

  • González Martín-Moro B
  • Pérez B
  • Santiuste Puente C
  • Desviat L
  • Ugarte M
  • Pérez M
  • Pardo Vigo A
  • Matíes Prats M
... View more Collapse

Quimica Clinica (p. 41-45) - 12/9/2005

  • ISSN 11392436
  • iMarina

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity

  • Desviat LR, Pérez B, Ugarte M

Journal Of Inherited Metabolic Disease (p. 227-230) - 20/5/1996

10.1007/bf01799436 View at source

  • ISSN 01418955

PHENOTYPE DISTRIBUTION IN THE SPANISH PHENYLKETONURIA POPULATION AND RELATED GENOTYPES

  • Ugarte Perez, Magdalena
  • Ruiz Desviat, Lourdes
  • Perez Gonzalez, Maria Belen
  • Martinezpardo, M
  • Colmenares, AR
  • Garcia, MJ

Journal Of Inherited Metabolic Disease (p. 366-368) - 1/5/1994

10.1007/bf00711832 View at source

  • ISSN 01418955

DIFFERENT PHENOTYPIC MANIFESTATIONS ASSOCIATED WITH IDENTICAL PHENYLKETONURIA GENOTYPES IN 2 SPANISH FAMILIES

  • Ugarte Perez, Magdalena
  • Ruiz Desviat, Lourdes
  • Perez Gonzalez, Maria Belen
  • Garcia, MJ

Journal Of Inherited Metabolic Disease (p. 377-378) - 1/5/1994

10.1007/bf00711839 View at source

  • ISSN 01418955

Spectrum and origin of phenylketonuria mutations in Spain

  • Pérez B, Desviat LR, De Lucca M, Ugarte M

Acta Paediatrica (p. 34-36) - 1/1/1994

10.1111/j.1651-2227.1994.tb13444.x

  • ISSN 16512227
  • iMarina

A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening

  • Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, Muñoz-Hernández MC, Vega AI, Pérez-Cerdá C, García-Martín ML, Pérez B

Journal Of Inherited Metabolic Disease (p. 407-413) - 1/5/2019

10.1002/jimd.12063

  • ISSN 01418955
  • iMarina

Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency

  • Perez Gonzalez, Maria Belen
  • Ortez, C
  • Jou, C
  • Cortes-Saladelafont, E
  • Moreno, J
  • Perez, A
  • Ormazabal, A
  • Perez-Cerda, C
  • Perez, B
  • Artuch, R
  • Cusi, V
  • Garcia-Cazorla, A
... View more Collapse

Infantile Parkinsonism And Gabaergic Hypotransmission In A Patient With Pyruvate Carboxylase Deficiency (p. 302-306) - 15/12/2013

10.1016/j.gene.2013.08.036 View at source

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of aminoadipic semialdehyde synthase deficiency

  • Perez Gonzalez, Maria Belen
  • Tondo, Mireia
  • Calpena, Eduardo
  • Arriola, Gema
  • Sanz, Paloma
  • Martorell, Loreto
  • Ormazabal, Aida
  • Castejon, Esperanza
  • Palacin, Manuel
  • Ugarte, Magdalena
  • Espinos, Carmen
  • Perez, Belen
  • Perez-Duenas, Belen
  • Artuch, Rafael
... View more Collapse

Molecular Genetics And Metabolism (p. 231-236) - 1/11/2013

10.1016/j.ymgme.2013.06.021 View at source

  • ISSN 10967192

A new PKU mutation associated with haplotype 12

  • Desviat LR, Pérez B, Ugarte M

Human Molecular Genetics (p. 765-6) - 1/12/1992

10.1093/hmg/1.9.765 View at source

  • ISSN 14602083

This researcher has no technical reports.

Enfoque Cross-Omico para el descubrimiento de la base genética de errores innatos del metabolismo y para una intervencion terapeutica personalizada

  • SEGOVIA FALQUINA, CRISTINA (Investigador/a)
  • RUIZ SALA, PEDRO (Investigador/a)
  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))
  • LEAL PEREZ, M FATIMA (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • VILAS LAGOA, ALICIA (Investigador/a)
  • VEGA PAJARES, ANA ISABEL (Investigador/a)
  • BRAVO ALONSO, IRENE (Investigador/a)
  • ARRIBAS CARREIRA, LAURA (Investigador/a)
  • GALLEGO MARTINEZ, DIANA (Investigador/a)
  • NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
... View more Collapse

Period: 01-01-2020 - 31-12-2022

Type of funding: National

Amount of funding: 244420,00 Euros.

  • iMarina

Programa de actividades de I+D RAREGENOMICS-CM

  • Perez Gonzalez, Maria Belen (Investigador/a)

Period: 01-01-2018 - 31-12-2021

  • iMarina

Enfermedades neurometabólicas hereditarias: avances en el diagnóstico, la patofisiología y desarrollo de terapias dirigidas a estabilizar proteínas

  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • Arduim Brasil, Sandra Dolores (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 01-01-2017 - 31-12-2019

Type of funding: National

Amount of funding: 212052,50 Euros.

  • iMarina

Acidemia metilmalónica: Identificación de genes responsables, generación de modelos celulares de enfermedas e investigación en terapias.

  • Perez Gonzalez, Maria Belen (Investigador principal (IP))
  • Ana Isabel Vega Pajares (Investigador/a)
  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Yuste Checa, Patricia (Investigador/a)
  • M Fatima Leal Perez (Investigador/a)

Period: 01-01-2014 - 31-12-2016

  • iMarina

Desarrollo de chaperonas farmacológicas para el tratamiento de infermedades raras neurometabólicas.

  • Gamez, Alejandra (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 01-01-2013 - 31-12-2016

  • iMarina

(Grupo CAMIT)

  • Cuezva Marcos, Jose Manuel (Investigador principal (IP))
  • Garesse Alarcon, Rafael (Investigador principal (IP))
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))
  • Sanchez Cenizo, Laura (Investigador/a)
  • Garcia Bermudez, Javier (Investigador/a)
  • Laura Formentini (Investigador/a)
  • Margarita Chamorro Bello (Investigador/a)
  • Willers, Imke María (Investigador/a)
  • Cristina Nuñez de Arenas Flores (Investigador/a)
  • Maria Sanchez Arago (Investigador/a)
  • Inmaculada Martinez Reyes (Investigador/a)
  • Fulvio Santacatterina (Investigador/a)
  • Paula Martinez Valero (Investigador/a)
  • Paloma Gonzalez Sanchez (Investigador/a)
  • Begoña Merinero Cortes (Investigador/a)
  • Celia Perez Cerda (Investigador/a)
  • Pedro Ruiz Sala (Investigador/a)
  • Ugarte Perez, Magdalena (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador/a)
  • Sandra Dolores Arduim Brasil (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • Gallego Villar, Lorena (Investigador/a)
  • Alfonso Luis de Oyarzabal Sanz (Investigador/a)
  • Satrustegui Gil Delgado, Jorgina (Investigador principal (IP))
... View more Collapse

Period: 01-01-2012 - 31-12-2015

  • iMarina

La mitocondria y su implicación en patología humana (Grupo CEDEM)

  • Sanchez Muñoz, Aranzazu (Investigador principal (IP))
  • Fulvio Santacatterina (Investigador/a)
  • Laura Formentini (Investigador/a)
  • Garcia Bermudez, Javier (Investigador/a)
  • Willers, Imke María (Investigador/a)
  • Satrustegui Gil Delgado, Jorgina (Investigador principal (IP))
  • Ugarte Perez, Magdalena (Investigador principal (IP))
  • Cuezva Marcos, Jose Manuel (Investigador principal (IP))
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))
... View more Collapse

Period: 01-01-2012 - 31-12-2015

  • iMarina

Bases moleculares de acidurias orgánicas en serbia

  • Kristel Klaassen (Investigador/a)
  • Sonja Pavlovic (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 12-01-2011 - 12-01-2013

  • iMarina

Nuevas terapias en enfermedades metabólicas hereditarias: Terapia génica de modificación de mRNAs y chaperonas farmacológicas.

  • Gamez, Alejandra (Investigador/a)
  • Sandra Arduim Brasil (Investigador/a)
  • Ugarte Perez, Magdalena (Investigador/a)
  • Fatima Leal Perez (Investigador/a)
  • Ana Isabel Vega Pajares (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 01-01-2011 - 31-12-2013

  • iMarina

Caracterización funcional de mutaciones de splicing y de parada prematura de la traducción en acidemias orgánicas Investigación en terapias específicas de mutación.

  • Sanchez Alcudia, Rocio (Investigador/a)
  • Ana Rincon Vela (Investigador/a)
  • Ana Jorge Finnigan (Investigador/a)
  • Rosa Navarrete Lopez de Soria (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador principal (IP))

Period: 10-01-2007 - 31-12-2010

  • iMarina

Desarrollo de modelos con fines diagnósticos y terapéuticos para la deficiencia de fosfomanomutasa 2

  • María Belén Pérez González (Director) Doctorando: Alicia Vilas Lagoa

1/1/2023

  • iMarina

Caracterización genética de la Acidosis Láctica Congénita: Un ejemplo de análisis integral de una enfermedad rara

  • Pilar Rodríguez Pombo (Director)
  • María Belén Pérez González (Director) Doctorando: Bravo Alonso, Irene

10/9/2021

  • iMarina

Desarrollo de modelos para la evaluación de terapias con chaperonas farmacológicas en aciduria metilmalónica y deficiencia en fosfomanomutasa

  • Fernandez Piqueras, Jose (Autor o Coautor)
  • Perez Gonzalez, Maria Belen (Director) Doctorando: Briso-Montiano Pastrana, Alvaro

23/7/2020

  • iMarina

Role of URI in intestinal homeostasis and radiation enteropathy

  • Djouder, Nabil (Director)
  • Perez Gonzalez, Maria Belen (Tutor) Doctorando: Chaves Pérez, Almudena

8/2/2019

  • iMarina

Aplicación de la secuenciación masiva de DNA al diagnóstico de los defectos congénitos de glicosilación y de glucogenosis

  • Perez Gonzalez, Maria Belen (Director) Doctorando: Medrano Rodríguez, Celia

9/3/2017

  • iMarina

Bases genéticas de la respuesta radioadaptativa en timocitos de ratón

  • Fernandez Piqueras, Jose (Director)
  • Manuel Malave Galiana (Director)

2/2/2015

  • iMarina

Desarrollo de terapias específicas de mutación en enfermedades metabólicas hereditarias

  • Perez Gonzalez, Maria Belen (Director) Doctorando: Patricia Yuste Checa 

1/1/2015

  • iMarina

Implicación de JAK2 en el desarrollo de los linfomas linfoblásticos de células T

  • Fernandez Piqueras, Jose (Codirector)
  • Pilar López Nieva (Director) Doctorando: Roncero Sánchez, Ana María

1/1/2015

  • iMarina

Confirmación y caracterización de ADAMTSL3 y HMGA2 como dos nuevas dianas de transcripción de SHOX, y su implicación en la regulación del crecimiento óseo

  • Cruces Pinto, Jesus (Autor o Coautor)
  • Perez Gonzalez, Maria Belen (Autor o Coautor)
  • Alberta Belinchón Martínez (Director) Doctorando: Alberta Belinchón Martínez

1/1/2014

  • iMarina

Mecanismos patogénicos de las mutaciones en el gen nf1: Bases moleculares y celulares

  • AYUSO GARCIA, MARIA DEL CARMEN TOMASA (Autor o Coautor)
  • Perez Gonzalez, Maria Belen (Autor o Coautor)
  • Varela Nieto, Isabel (Tutor)

1/1/2013

  • iMarina

Compuestos útiles para el tratamiento de la aciduría metilmalónica

  • Perez Gonzalez, Maria Belen (Autor o Coautor)

11/2/2013

  • iMarina
Last data update: 8/28/24 11:46 AM