Výsledky vyhledávání - "Esther, Geán"

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome

Autor: Maria Oliver-Bonet, Alexandra Alemany-Schmidt, Laia Vergés, Joan Blanco, Esther Geán, Francesca Vidal

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientific Reports

DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a94a861a4e7a4135524d805802bf97e
https://ddd.uab.cat/record/205913

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Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers

Autor: Joan Blanco, Francesca Vidal, Laia Vergés, Esther Geán, Oscar Molina

Publikováno v: Molecular Cytogenetics
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

Altres ajuts: Universitat Autònoma de Barcelona CF-180034 i PIF/2012 Background: DiGeorge/velocardiofacial syndrome (DGS/VCFS) is the most common deletion syndrome in humans. Low copy repeats flanking the 22q11.2 region confer a substrate for non-al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36fe9fe842d74cb8913f4c7414b9ccb2
http://europepmc.org/articles/PMC4247602

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Oral manifestations in Ellis-van Creveld syndrome: report of five cases

Autor: Abel, Cahuana, Camila, Palma, Wilber, Gonzáles, Esther, Geán

Publikováno v: Pediatric dentistry. 26(3)

Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. Its incidence in the general population is low. The oral manifestations of Ellis-van Creveld are found in soft

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e12991c3d3a0e519b8e1787dd0946225
https://pubmed.ncbi.nlm.nih.gov/15185812

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News and comment

Autor: Judith, Armstrong, Pilar, Póo, Mercè, Pineda, Elena, Aibar, Esther, Geán, Vicenç, Català, Eugènia, Monrós

Publikováno v: Annals of neurology. 50(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::791ab602498ae657ae667f8ee9ba6313
https://pubmed.ncbi.nlm.nih.gov/11857656

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