Concepedia

Diego Cantalapiedra

DC

20

Publications

914

Citations

19

H-Index

2004

Active since

Affiliations

Hospital Universitario Fundación Jiménez Díaz(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Hospital de Sant Pau

Centro de Investigación Biomédica en Red

Diego Cantalapiedra is an author at Hospital Universitario Fundación Jiménez Díaz specializing in genetic epidemiology, clinical genetics, and medicine.

Top concepts

Publications per year

2004–2019

20

Publications

20

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach

Dan Diego‐Álvarez, Carmen Ramos-Corrales, Maria García‐Hoyos et al. · Human Reproduction · 2005 · 144 citations · Full text

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Almudena Ávila‐Fernández, Diego Cantalapiedra, Elena Aller et al. · PubMed · 2010 · 105 citations · Full text

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

Elena Vallespín, Diego Cantalapiedra, Rosa Riveiro-Álvarez et al. · Investigative Ophthalmology & Visual Science · 2007 · 85 citations

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

Marta Cortón, Sorina D. Tatu, Almudena Ávila‐Fernández et al. · Orphanet Journal of Rare Diseases · 2013 · 74 citations · Full text

Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, Jana Zernant et al. · Ophthalmology · 2013 · 70 citations · Full text

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