Publications by authors named "Esther Gean"

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Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Ainhoa Pascual-Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio

Clin Genet· April 2020

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An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.
Laia Vergés, Francesca Vidal, Esther Geán, Alexandra Alemany-Schmidt, Maria Oliver-Bonet

Sci Rep· January 2017

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Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers.
Laia Vergés, Oscar Molina, Esther Geán, Francesca Vidal, Joan Blanco

Mol Cytogenet· December 2014

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[Diploid/triploid mosaicism: a variable but characteristic phenotype].
Daniel Natera-De Benito, Pilar Poo, Esther Gean, Asunción Vicente-Villa, Angels García-Cazorla

Rev Neurol· August 2014

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[Ethical deliberations on genetic testing in children and adolescents].
Montse Esquerda, Sabel Gabaldón, Esther Gean,

Rev Neurol· September 2013

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The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
Jose A Caparrós-Martín, María Valencia, Edel Reytor, María Pacheco, Margarita Fernandez, Esther Gean

Hum Mol Genet· January 2013

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Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
Matthew R Fickie, Pablo Lapunzina, Jennifer K Gentile, Nina Tolkoff-Rubin, Daniela Kroshinsky, Esther Gean

Am J Med Genet A· September 2011

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Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Valeria Romanelli, Heloisa N M Meneses, Luis Fernández, Victor Martínez-Glez, Ricardo Gracia-Bouthelier, Esther Gean

Eur J Hum Genet· April 2011

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Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
Víctor Martínez-Glez, Valeria Romanelli, María A Mori, Ricardo Gracia, Mabel Segovia, Esther Gean

Am J Med Genet A· December 2010

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Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion.
Ana Roche, Jaume Mora, Maria Del Mar Perez, Esther Gean, Belen Perez

Pediatr Blood Cancer· March 2010

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Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity.
M Antonia González-Enseñat, Asunción Vicente, Pilar Poo, Vicenç Catalá, M Mar Pérez-Iribarne

Arch Dermatol· May 2009

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Van der Woude Syndrome and lower lip pits treatment.
Lucas Krauel, Francisco Jose Parri, Elena Muñoz, Angeles M Sancho, Esther Gean

J Oral Maxillofac Surg· March 2008

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Oral manifestations in Ellis-van Creveld syndrome: report of five cases.
Abel Cahuana, Camila Palma, Wilber Gonzáles, Esther Geán

Pediatr Dent· August 2004

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White matter alterations associated with chromosomal disorders.
Angels García-Cazorla, Anna Sans, Miguel Baquero, María Dolores García-Bargo, Montse Arellano, Esther Gean

Dev Med Child Neurol· March 2004

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News and comment.
Judith Armstrong, Pilar Póo, Mercè Pineda, Elena Aibar, Esther Geán

Ann Neurol· November 2001

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