Výsledky vyhledávání - "Care Rare Canada"

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region

Autor: Colin J. D. Ross, Xiaohua Han, Andrew D. Paterson, Casper Shyr, Care Rare Canada, Michelle Higginson, Victor Pegado, Cheryl Y. Gregory-Evans, Xin (Cynthia) Ye, Wyeth W. Wasserman, Nicole M. Roslin, Deborah Giaschi, Millan S. Patel, Oriol Fornes, Phillip A. Richmond, Christopher J. Lyons

Publikováno v: Journal of Medical Genetics

Strabismus is a common condition, affecting 1-4% of individuals. Isolated strabismus has been studied in families with Mendelian inheritance patterns. Despite the identification of multiple loci via linkage analyses, no specific genes have been ident

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d51158113f2e14753f3fc0be0c4251
http://europepmc.org/articles/PMC8685624

Zobrazit plný text záznamu

Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery

Publikováno v: Human mutation. 43(6)

Despite recent progress in the understanding of the genetic etiologies of rare diseases (RDs), a significant number remain intractable to diagnostic and discovery efforts. Broad data collection and sharing of information among RD researchers is there

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2509daedec9a1cd7a4cbef0069405502
https://pubmed.ncbi.nlm.nih.gov/35181971

Zobrazit plný text záznamu

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes

Autor: Care Rare Canada, Christine M. Armour, Kristin D. Kernohan, Vanda McNiven, Elka Miller, Yoko Ito, Taila Hartley

Publikováno v: American Journal of Medical Genetics Part A. 179:837-841

Autosomal dominant Dandy-Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy-Walker spectrum of disorders. Affected individuals often present

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab29fc766bd30f7a57c19b95a9912d96
https://doi.org/10.1002/ajmg.a.61095

Zobrazit plný text záznamu

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

Autor: Taila Hartley, Ágnes Till, Gael Cagnone, Endre Pál, Kinga Hadzsiev, Kym M. Boycott, Judith Zima, Béla Melegh, Yoko Ito, Alison Eaton, Care Rare Canada, Jodi Warman-Chardon

Publikováno v: European Journal of Medical Genetics. 63:103655

LGMD1D is an autosomal dominant limb girdle muscular dystrophy caused by variants in the DNAJB6 gene. This is typically an adult-onset disorder characterized by moderately progressive proximal muscle weakness without respiratory or bulbar involvement

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66390c749f398eefdc90a96fb9447b4d
https://doi.org/10.1016/j.ejmg.2019.04.012

Zobrazit plný text záznamu

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®

Autor: Kym M. Boycott, Alison Eaton, Taila Hartley, Samantha K Rojas, David A. Dyment, Tugce B. Balci, Care Rare Canada

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics. 178(4)

For years, the genetics community has estimated the number of individual rare genetic diseases to be approximately 6,000-8,000. A commonly quoted derivation of this estimate is based on the simple addition of the number of phenotypic entries with and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2ff1491a701e33a31bcaa96130963d
https://pubmed.ncbi.nlm.nih.gov/30580481

Zobrazit plný text záznamu

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

Autor: A.M. Innes, David A. Dyment, J.S. Parboosingh, Dennis E. Bulman, Taila Hartley, Chandree L. Beaulieu, Mark A. Tarnopolsky, Stephen J. Mosca, Kym M. Boycott, Julien L. Marcadier, Martine Tétreault, P. Ferreira, Care Rare Canada, Jodi Warman Chardon, Jeremy Schwartzentruber, Jacek Majewski, Sara L. Sawyer

Publikováno v: Clinical Genetics. 88:34-40

Whole-exome sequencing (WES) has transformed our ability to detect mutations causing rare diseases. FORGE (Finding Of Rare disease GEnes) and Care4Rare Canada are nation-wide projects focused on identifying disease genes using WES and translating thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32318442812c5a2a9b04005b79d8ea82
https://doi.org/10.1111/cge.12464

Zobrazit plný text záznamu

Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion

Autor: Rasha Sabouny, Aneal Khan, Rachel Wong, David S. Sinasac, Care Rare Canada, Laurie Lee-Glover, Timothy E. Shutt, Steven C. Greenway

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1865:165536

Mutations in FBXL4 (F-Box and Leucine rich repeat protein 4), a nuclear-encoded mitochondrial protein with an unknown function, cause mitochondrial DNA depletion syndrome. We report two siblings, from consanguineous parents, harbouring a previously u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::218f7f44e2c0a4f7e4a1eb4340aca4f6
https://doi.org/10.1016/j.bbadis.2019.165536

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Vyhledávací nástroje:

Upřesnit hledání