Alejandro Estrada-Cuzcano

country of citizenship: Peru

languages spoken, written or signed: Spanish, English, French, Dutch

educated at: Radboud University Medical Centre, National University of San Marcos

occupation: researcher

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Articles 14

Date

Title

Authors

2019-10-17

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

Alejandro Estrada-Cuzcano, Amélie Piton, Jean Muller, Hélène Dollfus
2018-01-01

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

Alejandro Estrada-Cuzcano, Yael Laitman
2017-01-11

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

Alejandro Estrada-Cuzcano, Derek Atkinson, Bob Asselbergh
2017-06-19

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

Alicia Oshlack, Paul J. Lockhart, Henna Tyynismaa, Derek Atkinson, Manuela Tumiati, Emil Ylikallio, Alejandro Estrada-Cuzcano, Kym M Boycott, Monique Ryan, Zornitza Stark
2015-10-22

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

Dahlia M Kancheva, Derek Atkinson, Peter De Rijk, Magdalena Zimon, Alejandro Estrada-Cuzcano
2013-01-07

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

Arnold Munnich, Alejandro Estrada-Cuzcano, Xia Wang, Francesco Testa, Josseline Kaplan, Isabelle Perrault, Francesca Simonelli, Susanne Kohl, Sandro Banfi, Jean-michel Rozet, Robert Koenekoop
2013-07-12

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

Alejandro Estrada-Cuzcano, Susanne Kohl
2012-01-13

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

Alejandro Estrada-Cuzcano, Susanne Kohl, Hans Scheffer, Dror Sharon, Rob W J Collin, Frans P M Cremers, Anneke I den Hollander
2012-11-01

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

Elfride De Baere, Susanne Kohl, Carmen Ayuso, Alejandro Estrada-Cuzcano, Sandro Banfi, Eberhart Zrenner, Robert Koenekoop, Dror Sharon, Thomy de Ravel
2011-02-11

IQCB1 mutations in patients with leber congenital amaurosis

Alejandro Estrada-Cuzcano, Susanne Kohl, Elfride De Baere, Samuel G. Jacobson, Frauke Coppieters, Eberhart Zrenner, Robert Koenekoop
2010-10

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

Nicholas Katsanis, Peter Nürnberg, Friedhelm Hildebrandt, Gudrun Nürnberg, Corinne Antignac, Sophie Saunier, Ronald Roepman, Xiaoshu Bei, Alejandro Estrada-Cuzcano, Eric A Pierce, Yukiko Yamashita, Edgar A. Otto, Shawn Levy, Chi V. Dang, Eamonn R Maher, Rachel H Giles, Hemant Khanna, Jeroen van Reeuwijk, Robert Koenekoop, Toby Hurd, Vanda S Lopes, Irma López-Martínez, Moumita Chaki, Rannar Airik, Gokul Ramaswami, Stef J F Letteboer, Corinne Stoetzel, Carlos A Murga-Zamalloa, Karlien Coene, Carsten Bergmann, Hélène Dollfus
2009-06

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

Nicholas Katsanis, Friedhelm Hildebrandt, Tania Attié-Bitach, Chris F. Inglehearn, Alejandro Estrada-Cuzcano, Clare Victoria Logan, Edgar A. Otto, Ian Macdonald, Samuel G. Jacobson, Anand Swaroop, Hemant Khanna, Donna Muzny, Robert Koenekoop, Irma López-Martínez, Anneke I den Hollander, Carlos A Murga-Zamalloa, Carsten Bergmann, Richard A Gibbs, David A. Wheeler, Lora Lewis, Margaret B Morgan, Naushin H Waseem, Christina Chakarova, Shomi S Bhattacharya
2009-10-01

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

Maria Luisa Guevara Gil, Alejandro Estrada-Cuzcano, Ricardo Fujita
2008-01-01

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

Alejandro Estrada-Cuzcano, Maria Luisa Guevara Gil, Ricardo Fujita

Human - wd:Q54269162

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