Holding the story, holding the professional: a pilot study of genetic counselling supervision in Portugal
Lídia Guimarães, Mariangels Ferrer‐Duch, Inês Costa, Ane Miren Sagardia et autres
0 citationsEuropean Journal of Human Genetics
María A. Ramos‐Arroyo
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48Publications signalées
1162Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genetic Neurodegenerative DiseasesGenomic variations and chromosomal abnormalitiesMitochondrial Function and PathologyBRCA gene mutations in cancerCancer Genomics and Diagnostics
Publications récentes
Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family
María Elena Erro, Gloria Martí‐Andrés, Fernando Alvira-Iraizoz, Esther Vicente et autres
1 citationNeurology Genetics
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia
Marı́a José Ramı́rez, Roser Pujol, Jordi Minguillón, Massimo Bogliolo et autres
14 citationsAmerican Journal of Hematology
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype
Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A. Cumming et autres
25 citationsEuropean Journal of Human Genetics
SpanishHTTgene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease
Ainara Ruiz de Sabando, Edurne Urrutia Lafuente, Arkaitz Galbete, Marc Ciosi et autres
10 citationsHuman Molecular Genetics
A01 Somatic mosaicism of the HTT cag repeat in intermediate allele carriers with neurocognitive symptoms compatible with huntington disease
Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Darren G. Monckton et autres
0 citations
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak et autres
11 citationsmedRxiv
Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain
Esther Vicente, Ainara Ruiz de Sabando, Fermín García, Itziar Gastón et autres
15 citationsOrphanet Journal of Rare Diseases
Author response: Clinical manifestations of homozygote allele carriers in Huntington disease
María A. Ramos‐Arroyo, Esther Cubo
0 citationsNeurology
Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain)
Ainara Ruiz de Sabando, Edurne Urrutia Lafuente, Fermín García-Amigot, Ángel Alonso Sánchez et autres
2 citationsBMC Cancer
Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain)
Ainara Ruiz de Sabando, Edurne Urrutia Lafuente, Fermín García-Amigot, Lourdes Morales Garofalo et autres
28 citationsBMC Cancer
Genetic and clinical characterization of BRCA-associated Hereditary Breast and Ovarian Cancer in Navarra (Spain)
Ainara Ruiz de Sabando, Edurne Urrutia Lafuente, Fermín García-Amigot, Ángel Alonso Sánchez et autres
2 citationsResearch Square
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