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Literature DB >> 25602001

Old meets new: identifying founder mutations in genetic disease.

Jane A Evans¹.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2015 PMID： 25602001 PMCID： PMC4312142 DOI： 10.1503/cmaj.141509

Source DB: PubMed Journal: CMAJ ISSN： 0820-3946 Impact factor: 8.262

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12 in total

1. Glycogen storage disease type III in Inuit children.

Authors: Paul James A Zimakas; Celia J Rodd
Journal: CMAJ Date: 2005-02-01 Impact factor: 8.262

2. Genomic medicine for underserved minority populations in family medicine.

Authors: Nadeem Qureshi; Joe Kai
Journal: Am Fam Physician Date: 2005-08-01 Impact factor: 3.292

3. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Authors: Chandree L Beaulieu; Jacek Majewski; Jeremy Schwartzentruber; Mark E Samuels; Bridget A Fernandez; Francois P Bernier; Michael Brudno; Bartha Knoppers; Janet Marcadier; David Dyment; Shelin Adam; Dennis E Bulman; Steve J M Jones; Denise Avard; Minh Thu Nguyen; Francois Rousseau; Christian Marshall; Richard F Wintle; Yaoqing Shen; Stephen W Scherer; Jan M Friedman; Jacques L Michaud; Kym M Boycott
Journal: Am J Hum Genet Date: 2014-06-05 Impact factor: 11.025

4. Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

Authors: Julien L Marcadier; Margaret Boland; C Ronald Scott; Kheirie Issa; Zaining Wu; Adam D McIntyre; Robert A Hegele; Michael T Geraghty; Matthew A Lines
Journal: CMAJ Date: 2014-12-01 Impact factor: 8.262

5. The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome.

Authors: Susan Stuckless; Patrick S Parfrey; Michael O Woods; Janet Cox; G William Fitzgerald; Jane S Green; Roger C Green
Journal: Fam Cancer Date: 2007 Impact factor: 2.375

6. Study of a single BRCA2 mutation with high carrier frequency in a small population.

Authors: S Thorlacius; S Sigurdsson; H Bjarnadottir; G Olafsdottir; J G Jonasson; L Tryggvadottir; H Tulinius; J E Eyfjörd
Journal: Am J Hum Genet Date: 1997-05 Impact factor: 11.025

7. A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

Authors: R Parvari; S Moses; J Shen; E Hershkovitz; A Lerner; Y T Chen
Journal: Eur J Hum Genet Date: 1997 Sep-Oct Impact factor: 4.246

8. A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

Authors: Isabelle Rousseau-Nepton; Minoru Okubo; Rosemarie Grabs; John Mitchell; Constantin Polychronakos; Celia Rodd
Journal: CMAJ Date: 2015-01-19 Impact factor: 8.262

Old meets new: identifying founder mutations in genetic disease.

1. Glycogen storage disease type III in Inuit children.

2. Genomic medicine for underserved minority populations in family medicine.

3. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

4. Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

5. The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome.

6. Study of a single BRCA2 mutation with high carrier frequency in a small population.

7. A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

8. A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

Review 9. Family history: the three-generation pedigree.

10. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

1. Novel bioinformatics quality control metric for next-generation sequencing experiments in the clinical context.

2. The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.