P
Patricio Barros-Núñez
Researcher at Mexican Social Security Institute
Publications - 71
Citations - 940
Patricio Barros-Núñez is an academic researcher from Mexican Social Security Institute. The author has contributed to research in topics: Genotype & Population. The author has an hindex of 16, co-authored 68 publications receiving 848 citations. Previous affiliations of Patricio Barros-Núñez include University of Guadalajara.
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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
Katie Snape,Sandra Hanks,Elise Ruark,Patricio Barros-Núñez,Anna Elliott,Anne Murray,Andrew H. Lane,Nora Shannon,Patrick Callier,David Chitayat,Jill Clayton-Smith,David R. FitzPatrick,David Gisselsson,Sébastien Jacquemont,Keiko Asakura-Hay,Mark Micale,John Tolmie,Peter D. Turnpenny,Michael Wright,Jenny Douglas,Nazneen Rahman +20 more
TL;DR: Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, it is identified biallelic, loss- of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies.
Journal ArticleDOI
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.
Herbert García-Castillo,Ana I. Vásquez-Velásquez,Horacio Rivera,Horacio Rivera,Patricio Barros-Núñez,Patricio Barros-Núñez +5 more
TL;DR: The distinct MVA clinical groups delineated here point to involvement of at least another mitotic spindle checkpoint gene in addition to the BUB1B gene.
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Novel Hairless mutations in two kindreds with autosomal recessive papular atrichia.
Roland Kruse,Roland Kruse,Sven Cichon,Martina Anker,Axel M. Hillmer,Patricio Barros-Núñez,José María Cantú,Evelia Leal,Georg Weinlich,Mathias Schmuth,Peter Fritsch,Thomas Ruzicka,Peter Propping,Markus M. Nöthen +13 more
TL;DR: It is suggested that the hairless protein is not only involved in hair development but also in the process of ossification during development.
Journal ArticleDOI
Crouzon with acanthosis nigricans. Further delineation of the syndrome
TL;DR: The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation and two unrelated patients showing this mutation are described.
Journal ArticleDOI
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval.
Bertrand Fontaine,Sophie Nicole,Haluk Topaloglu,C. Ben Hamida,Peter Beighton,Frank Spaans,José María Cantú,Salim Bakouri,Norma B. Romero,Kenneth Ricker,Patricio Barros-Núñez,G. Ponsot,M. Ben Hamida,Jean Weissenbach,Fayçal Hentati,Frank Lehmann-Horn +15 more
TL;DR: It is shown by homozygosity mapping and segregation analysis that eight new families are most likely linked to the SJS locus on chromosome 1, confirming the localization of SJS to chromosome 1p and suggesting genetic homogeneity.