Publications by authors named "Jesus Eiris"

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Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
Alejandro J Brea-Fernández, Federica A Souto-Trinei, Elba Iglesias, Pilar Caamaño, Berta Rodríguez Sánchez, Jesús Eiris

Cytogenet Genome Res· May 2024

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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Jesus Eiris

J Med Genet· July 2023

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Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Maria I Vanegas, Anna Marcé-Grau, Laura Martí-Sánchez, Sara Mellid, Heidy Baide-Mairena, Jesús Eiris

Parkinsonism Relat Disord· November 2020

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Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Alejandro Brea-Fernández, David Dacruz, Jesús Eirís, Francisco Barros, Ángel Carracedo

Am J Med Genet A· February 2019

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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Raman Kumar, Alison Gardner, Claire C Homan, Evelyn Douglas, Heather Mefford, Jesús Eiris

Hum Mutat· August 2018

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Health care and societal costs of the management of children and adolescents with attention-deficit/hyperactivity disorder in Spain: a descriptive analysis.
Javier Quintero, Josep A Ramos-Quiroga, Javier San Sebastián, Francisco Montañés, Alberto Fernández-Jaén, Jesús Eiris

BMC Psychiatry· February 2018

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Copy number variation analysis of patients with intellectual disability from North-West Spain.
Inés Quintela, Jesús Eirís, Carmen Gómez-Lado, Laura Pérez-Gay, David Dacruz

Gene· August 2017

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Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.
Ines Quintela, Francisco Barros, Montse Fernandez-Prieto, Rocio Martinez-Regueiro, Manuel Castro-Gago, Jesus Eiris

Am J Med Genet A· December 2015

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A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.
Ines Quintela, Francisco Barros, Ramon Lago-Leston, Manuel Castro-Gago, Angel Carracedo, Jesus Eiris

Am J Med Genet A· June 2015

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Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.
Ines Quintela, Francisco Barros, Manuel Castro-Gago, Angel Carracedo, Jesus Eiris

Am J Med Genet A· June 2015

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A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.
Ines Quintela, Montse Fernandez-Prieto, Lorena Gomez-Guerrero, Mariela Resches, Jesus Eiris

Clin Case Rep· June 2015

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[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
Adriana Ulate-Campos, Carmen Fons, Jaume Campistol, Loreto Martorell, Ramón Cancho-Candela, Jesús Eiris

Med Clin (Barc)· July 2014

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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce

Orphanet J Rare Dis· April 2014

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Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.
Alberto Gómez-Carballa, María Cerezo, Emilia Balboa, Claudia Heredia, Lidia Castro-Feijóo

PLoS One· April 2011

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[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].
Angela Sempere, Carmen Fons, Angela Arias, Pilar Rodríguez-Pombo, Begoña Merinero

Med Clin (Barc)· November 2009

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[Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients].
Carmen Fons, Jaume Campistol, Juan Narbona, Ramón Velázquez, Jesús Eiris

Med Clin (Barc)· April 2008

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Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome.
Carmen Gómez-Lado, Jesús Eirís, José Manuel Martínez-Yriarte, Oscar Blanco, Manuel Castro-Gago

Acta Paediatr· November 2006

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