List of works by Alejandro Estrada Cuzcano

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

scientific article

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

scientific article

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

scientific article published on 12 July 2013

IQCB1 mutations in patients with leber congenital amaurosis.

scientific article

Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation

scientific article published on 01 January 2018

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

scientific article published on 19 June 2017

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

scientific journal article

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

scientific article published on 17 October 2019

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

scientific article published on 22 October 2015

Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent.

scientific article

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

scientific article published on 11 January 2017

Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12. ⬇️

scientific article published on October 2009

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

scientific article

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