Maribel Alvarez-Mora
机构: Hospital Clinic of Barcelona
每年引用次数
引用次数
引用: 716
H-指数: 16
I10-指数 : 24
出版物: 64
Patologías asociadas a la premutación del gen FMR1
Álvarez Mora , María Isabel
TDX (Tesis Doctorals en Xarxa)
2016
Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations.
I. Madrigal , R. Rabionet , M.I. Alvarez-Mora , A. Sanchez
Gene 695 12 -17
4
2019
Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency
M.I. Alvarez-Mora , L. Rodriguez-Revenga , I. Madrigal , F. Garcia-Garcia
Gene 571 ( 1) 52 -57
12
2015
Clinical implication of FMR1 intermediate alleles in a Spanish population.
M.I. Alvarez-Mora , I. Madrigal , F. Martinez , M.-I. Tejada
Clinical Genetics 94 ( 1) 153 -158
1
2018
Social anxiety and autism spectrum traits among adult FMR1 premutation carriers.
O. López-Mourelo , E. Mur , I. Madrigal , M.I. Alvarez-Mora
Clinical Genetics 91 ( 1) 111 -114
2
2017
Fragile X syndrome: An overview and update of the FMR1 gene.
M. Mila , M.I. Alvarez-Mora , I. Madrigal , L. Rodriguez-Revenga
Clinical Genetics 93 ( 2) 197 -205
94
2018
Fragile X-associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations.
Maria I. Alvarez‐Mora , Petar Podlesniy , Ellen Gelpi , Renate Hukema
Genes, Brain and Behavior 18 ( 5)
13
2019
An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.
Maria Isabel Alvarez‐Mora , Anne‐Laure Todeschini , Sandrine Caburet , Lilach Peled Perets
Clinical Genetics 98 ( 3) 293 -298
2
2020
Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.
Keyvan Torabi , Pau Erola , Maria Isabel Alvarez‐Mora , Marcos Díaz‐Gay
International Journal of Cancer 144 ( 3) 513 -524
3
2019
KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Maria Cristina Cioclu , Ilaria Mosca , Paolo Ambrosino , Deborah Puzo
Annals of Neurology 94 ( 2) 332 -349
6
2023
A170P mutation in SHOX gene in a patient not presenting with Madelung deformity
María Isabel Álvarez-Mora , Irene Madrigal , Laia Rodriguez-Revenga , Antonio Mur
Journal of Clinical Pathology 65 ( 9) 844 -846
3
2012
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
María Isabel Álvarez-Mora , Aurora Sánchez , Laia Rodríguez-Revenga , Jordi Corominas
Orphanet Journal of Rare Diseases 17 ( 1) 60 -60
25
2022
Creatine kinase elevation in autosomal dominant polycystic kidney disease patients on tolvaptan treatment
Diana Rodríguez-Espinosa , José Jesús Broseta , Carla Bastida , María Isabel Álvarez-Mora
Nephron 147 ( 3-4) 152 -157
1
2023
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2
A Arteche-López , MI Álvarez-Mora , MT Sanchez Calvin , JM Lezana Rosales
European Journal of Human Genetics 29 ( 10) 1520 -1526
6
2021
Grupo de Bioinformática (GdT-BIOINFO21): Actualización en el análisis de datos de NGS para el Diagnóstico. La importancia de¿ compartir conocimiento?
P Mínguez , J Pérez-Florido , MI Álvarez-Mora , M Peña-Chillet
2022
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Juan Luque , Ingrid Mendes , Beatriz Gomez , Beatriz Morte
Clinical Genetics 101 ( 5-6) 481 -493
10
2022
MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients
María Isabel Alvarez‐Mora , Laia Rodriguez‐Revenga , Irene Madrigal , Francisca Torres‐Silva
Genes, Brain and Behavior 12 ( 6) 595 -603
25
2013
Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases
Gemma Bullich , Leslie Matalonga , Montserrat Pujadas , Anastasios Papakonstantinou
The Journal of molecular diagnostics 24 ( 5) 529 -542
8
2022
El estudio de segregación de ambas variantes mostera que ambos progenitores
Laia Rodriguez-Revenga , Maria Isabel Álvarez-Mora , Alfons Nadal , Irene Madrigal
RENDIMIENTO DEL ESTUDIO GENÉTICO GERMINAL EN PACIENTES CON CÁNCER DE PÁNCREAS< 60 AÑOS
Joan Llach , Irina Luzko , Marc Lleixà , Cristina Herrera-Pariente
Gastroenterología y Hepatología 46 S1 -S1
2023