Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Catherine Deveault"'
Autor:
Mark T. Greenberg, Shayna Zelcer, Paul Gibson, Nivetha Ramachandran, Carla Bennett, Janet Manzo, Carol Portwine, David Malkin, Donna L. Johnston, Sarah Alexander, Samantha Sonshine, Catherine Deveault, Kathy Brodeur-Robb, Mariana Silva
Publikováno v:
Paediatrics Publications
Opportunities for participation in clinical trials are a core component of the care of children with cancer. In Ontario, many pediatric patients live long distances from their cancer center. This paper describes the work that was done in order to all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94c3b6d44548e736a5a8ad743f842e83
https://ir.lib.uwo.ca/paedpub/136
https://ir.lib.uwo.ca/paedpub/136
Publikováno v:
Ophthalmic Genetics. 33:150-154
To assess for SDCCAG8 mutations in Bardet-Biedl syndrome (BBS) subjects with renal involvement and no polydactyly, and to describe phenotypic characteristics of SDCCAG8-related disease.Five patients (from 4 pedigrees) with clinical diagnosis of BBS,
Autor:
Anne Marie Maloney, Samantha Knight, Lisa Allen, Abha A. Gupta, Catherine Deveault, Jeffrey Traubici, Armando J. Lorenzo, Amy Lee Chong
Publikováno v:
Journal of pediatric and adolescent gynecology. 29(6)
Study Objective Alkylating agents are implicated in premature ovarian insufficiency. To optimize counseling regarding future ovarian function in survivors of adolescent cancer, we describe anti-Mullerian hormone (AMH) levels in female adolescents at
Publikováno v:
Ophthalmic genetics. 32(3)
Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare autosomal recessive, clinically and genetically heterogeneous disorder with 15 genes identified. The large amount of coding sequence challenges the cost effectiveness of mutational analysis of BBS.We
Autor:
Jenea M. Bin, Samuel G. Jacobson, Debra Kennedy, Rebecca Theal, Karen Fieggen, Christina Gerth, Tanja Knueppel, David Chitayat, Jacque L. Duncan, Nima Noordeh, Gail Billingsley, Elias I. Traboulsi, Ajoy Vincent, Kym M. Boycott, Elise Heon, Gerald A. Fishman, Francis L. Munier, José M. Millán, Catherine Deveault, A. Micheil Innes, Grant A. Mitchell
Publikováno v:
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational anal
Autor:
Andrew D. Paterson, Jacque L. Duncan, Koji Ogata, Catherine Deveault, Shoshana S Wodak, Elise Heon, Christina Gerth, Grant A. Mitchell, Tanja Knueppel, David Chitayat, Gail Billingsley, Jenea M. Bin, Gerald A. Fishman, Karen Fieggen, José M. Millán, Elias I. Traboulsi
Publikováno v:
Journal of medical genetics. 47(7)
Background Bardet–Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8 GTP to the primary cilium and promote ciliogen
Publikováno v:
Human mutation. 28(7)
Familial recurrent hydatidiform moles are a rare recessive condition in which molar tissues have biparental contribution to their genome. One maternal locus responsible for this condition has been mapped to 19q13.4 and the causative gene, NALP7, iden