M A Ramos-Arroyo

Publications (9)

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

Genes

Avec: Virginia Garcia-Solaesa , Pablo Serrano-Lorenzo , Maria Antonia Ramos-Arroyo , Alberto Blázquez , Inmaculada Pagola-Lorz , Mercè Artigas-López , Joaquín Arenas , Miguel A Martín , Ivonne Jericó-Pascual

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.

Human molecular genetics

Avec: Ainara Ruiz de Sabando , Edurne Urrutia Lafuente , Arkaitz Galbete , Marc Ciosi , Fermín García Amigot , Virginia García Solaesa , Auteur inconnu , Darren G Monckton , Maria A Ramos-Arroyo

Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

BMC cancer

Avec: Ainara Ruiz de Sabando , Edurne Urrutia Lafuente , Fermín García-Amigot , Angel Alonso Sánchez , Lourdes Morales Garofalo , Sira Moreno , Eva Ardanaz , Maria A Ramos-Arroyo

Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

BMC cancer

Avec: Ainara Ruiz de Sabando , Edurne Urrutia Lafuente , Fermín García-Amigot , Angel Alonso Sánchez , Lourdes Morales Garofalo , Sira Moreno , Eva Ardanaz , Maria A Ramos-Arroyo

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Molecular genetics & genomic medicine

Avec: Virginia Pérez-Grijalba , Alberto García-Oguiza , María López , Judith Armstrong , Sixto García-Miñaur , Jose María Mesa-Latorre , Mar O'Callaghan , Mercé Pineda Marfa , Maria Antonia Ramos-Arroyo , Fernando Santos-Simarro , Verónica Seidel , Elena Domínguez-Garrido

[Spanish rare disease registries research network: first results of Spain-RDR's project in Navarre].

Anales del sistema sanitario de Navarra

Avec: E Vicente , M Guevara , M J Lasanta , M A Ramos-Arroyo , E Ardanaz

Clinical manifestations of homozygote allele carriers in Huntington disease.

Neurology

Avec: Esther Cubo , Saul-Indra Martinez-Horta , Frederic Sampedro Santalo , Asunción Martínez Descalls , Sara Calvo , Cecilia Gil-Polo , Ignacio Muñoz , Katia Llano , Natividad Mariscal , Dolores Diaz , Aranzazu Gutierrez , Laura Aguado , María A Ramos-Arroyo , Auteur inconnu

Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.

Orphanet journal of rare diseases

Avec: Esther Vicente , Ainara Ruiz de Sabando , Fermín García , Itziar Gastón , Eva Ardanaz , María A Ramos-Arroyo

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.

European journal of human genetics : EJHG

Avec: Ainara Ruiz de Sabando , Marc Ciosi , Arkaitz Galbete , Sarah A Cumming , Auteur inconnu , Darren G Monckton , Maria A Ramos-Arroyo

Réseau de co-auteurs

Ainara Ruiz de Sabando 5 collaborations

Maria A Ramos-Arroyo 4 collaborations

Edurne Urrutia Lafuente 3 collaborations

None None 3 collaborations

Eva Ardanaz 3 collaborations

Maria Antonia Ramos-Arroyo 2 collaborations

Arkaitz Galbete 2 collaborations

Marc Ciosi 2 collaborations

Darren G Monckton 2 collaborations

Fermín García-Amigot 2 collaborations

Angel Alonso Sánchez 2 collaborations

Lourdes Morales Garofalo 2 collaborations

Sira Moreno 2 collaborations

María A Ramos-Arroyo 2 collaborations

Virginia Garcia-Solaesa 1 collaboration

Pablo Serrano-Lorenzo 1 collaboration

Alberto Blázquez 1 collaboration

Inmaculada Pagola-Lorz 1 collaboration

Mercè Artigas-López 1 collaboration

Joaquín Arenas 1 collaboration

Miguel A Martín 1 collaboration

Ivonne Jericó-Pascual 1 collaboration

Fermín García Amigot 1 collaboration

Virginia García Solaesa 1 collaboration

Virginia Pérez-Grijalba 1 collaboration

Alberto García-Oguiza 1 collaboration

María López 1 collaboration

Judith Armstrong 1 collaboration

Sixto García-Miñaur 1 collaboration

Jose María Mesa-Latorre 1 collaboration

Mar O'Callaghan 1 collaboration

Mercé Pineda Marfa 1 collaboration

Fernando Santos-Simarro 1 collaboration

Verónica Seidel 1 collaboration

Elena Domínguez-Garrido 1 collaboration

E Vicente 1 collaboration

M Guevara 1 collaboration

M J Lasanta 1 collaboration

E Ardanaz 1 collaboration

Esther Cubo 1 collaboration

Saul-Indra Martinez-Horta 1 collaboration

Frederic Sampedro Santalo 1 collaboration

Asunción Martínez Descalls 1 collaboration

Sara Calvo 1 collaboration

Cecilia Gil-Polo 1 collaboration

Ignacio Muñoz 1 collaboration

Katia Llano 1 collaboration

Natividad Mariscal 1 collaboration

Dolores Diaz 1 collaboration

Aranzazu Gutierrez 1 collaboration

Laura Aguado 1 collaboration

Esther Vicente 1 collaboration

Fermín García 1 collaboration

Itziar Gastón 1 collaboration

Sarah A Cumming 1 collaboration