Association of P10L Polymorphism in Melanopsin Gene with Chronic Insomnia in Mexicans

Autor: Kricel Perez Conde-Andreu, Jaime Paul Gutiérrez-Amavizca, Jorge Alberto Pérez-León, Ernesto Prado Montes de Oca, Cesar Heriberto Ruíz-Marquez, Bianca Ethel Gutiérrez-Amavizca, Oscar David Castro, Ricardo Pérez Calderón, Marisela Aguirre Ramírez

Publikováno v: International Journal of Environmental Research and Public Health, Vol 18, Iss 571, p 571 (2021)
International Journal of Environmental Research and Public Health
Volume 18
Issue 2

The aim of this pilot study was to determine the association of the P10L (rs2675703) polymorphism of the OPN4 gene with chronic insomnia in uncertain etiology in a Mexican population. A case control study was performed including 98 healthy subjects a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72738522b20a25d5d5d6b291308f90f9
https://www.mdpi.com/1660-4601/18/2/571

Nerve Transfer from the Long Head Triceps Nerve to Posterior Interosseous Nerve for Restoration of Wrist, Finger, and Thumb

Autor: Nicolás Ignacio Flores-Moltedo, Jesús Jaime Zermeño-Rivera, Bianca Ethel Gutiérrez-Amavizca

Publikováno v: Plastic and Reconstructive Surgery Global Open
Plastic and Reconstructive Surgery, Global Open, Vol 7, Iss 10, p e2453 (2019)

Summary:. In brachial plexus injuries where the radial nerve is damaged, there is loss of wrist, finger, and thumb extension. Surgical options for treating brachial plexus injuries are case dependent. To restore finger and wrist extension, the median

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625336e8e3914e5411bc9ee9027e5275
http://europepmc.org/articles/PMC6846301

Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring

Autor: Luis Felipe Jave-Suárez, Luis E. Figuera, Adriana Aguilar-Lemarroy, Isaura A. González-Ramos, Azubel Ramírez-Velazco, M G Domínguez, Aniel Jl. Brambila-Tapia, Horacio Rivera, Miriam Partida-Pérez, Bianca Ethel Gutiérrez-Amavizca, Patricio Barros-Núñez

Publikováno v: Clinical dysmorphology. 26(4)

In this study, we describe two patients with a recombinant chromosome secondary to a maternal intrachromosomal insertion. Patient 1 was a girl with dup(6)(p22.3p25.3). Patient 2 was a boy with dup(2)(q24.2q32.1). Both familial rearrangements were cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19dbc9e921723f62bcabfbb179bdde0
https://pubmed.ncbi.nlm.nih.gov/28737552

Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females

Autor: R. Orozco-Castellanos, Luis E. Figuera, Jorge Ramón Padilla-Gutiérrez, Yeminia Valle, Bianca Ethel Gutiérrez-Amavizca

Publikováno v: Genetics and Molecular Research. 13:6752-6758

Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a power

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8fcf152e34447cf41f551c0f7bfcdc4
https://doi.org/10.4238/2014.august.28.19

A novel mutation in CDMP1 causes brachydactyly type C with 'angel-shaped phalanx'. A genotype–phenotype correlation in the mutational spectrum

Autor: Fabienne Escande, Patricio Barros-Núñez, C.I. Juárez-Vázquez, Muriel Holder-Espinasse, Aniel Jessica Leticia Brambila-Tapia, Sylvie Manouvrier-Hanu, Bianca Ethel Gutiérrez-Amavizca

Publikováno v: European Journal of Medical Genetics. 55:611-614

Brachydactyly type C (BDC), a well-recognized autosomal dominant hand malformation, displays brachymesophalangy of the second, third, and fifth fingers, a short first metacarpal, hyperphalangy, and ulnar deviation of the index finger. An "angel-shape

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f4e9bd96fcac6104b53fbb4e9edfb6
https://doi.org/10.1016/j.ejmg.2012.07.004