Literature DB >> 22379385

Amish, mennonite, and hutterite genetic disorder database.

Michael Payne1, C Anthony Rupar, Geoffrey M Siu, Victoria Mok Siu.   

Abstract

Entities:  

Year:  2011        PMID： 22379385      PMCID： PMC3077314          DOI： 10.1093/pch/16.3.e23

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN： 1205-7088            Impact factor:   2.253


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  9 in total

1.  A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

Authors:  C A Rupar; D Matsell; S Surry; V Siu
Journal:  J Med Genet       Date:  2001-09       Impact factor: 6.318

Review 2.  Genetics of population isolates.

Authors:  M Arcos-Burgos; M Muenke
Journal:  Clin Genet       Date:  2002-04       Impact factor: 4.438

3.  Medical genetic studies in the Amish: historical perspective.

Authors:  Clair A Francomano; Victor A McKusick; Leslie G Biesecker
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

Review 4.  Unique disease heritage of the Dutch-German Mennonite population.

Authors:  Noelle C Orton; A Micheil Innes; Albert E Chudley; N Torben Bech-Hansen
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

5.  CTNS mutations in an American-based population of cystinosis patients.

Authors:  V Shotelersuk; D Larson; Y Anikster; G McDowell; R Lemons; I Bernardini; J Guo; J Thoene; W A Gahl
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

6.  A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

Authors:  Piya Lahiry; Jian Wang; John F Robinson; Jacob P Turowec; David W Litchfield; Matthew B Lanktree; Gregory B Gloor; Erik G Puffenberger; Kevin A Strauss; Mildred B Martens; David A Ramsay; C Anthony Rupar; Victoria Siu; Robert A Hegele
Journal:  Am J Hum Genet       Date:  2009-01-29       Impact factor: 11.025

Review 7.  Clinical genetics and the Hutterite population: a review of Mendelian disorders.

Authors:  Kym M Boycott; Jillian S Parboosingh; Bernie N Chodirker; R Brian Lowry; D Ross McLeod; Jackie Morris; Cheryl R Greenberg; Albert E Chudley; Francois P Bernier; Julian Midgley; Lisbeth Birk Møller; A Micheil Innes
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

8.  Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.

Authors:  E G Puffenberger
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

9.  Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.

Authors:  D Holmes Morton; Caroline S Morton; Kevin A Strauss; Donna L Robinson; Erik G Puffenberger; Christine Hendrickson; Richard I Kelley
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908
  9 in total
  8 in total

1.  Physical health conditions of the Amish and intervening social mechanisms: an exhaustive narrative review.

Authors:  Cory Anderson; Lindsey Potts
Journal:  Ethn Health       Date:  2021-08-19       Impact factor: 2.772

2.  Research Trends in Amish Population Health, a Growing Literature about a Growing Rural Population.

Authors:  Cory Anderson; Lindsey Potts
Journal:  J Rural Soc Sci       Date:  2021-05-17

3.  Medical genetics in paraguay.

Authors:  Carlos Raúl Ferreira; María Beatriz de Herreros
Journal:  Mol Genet Genomic Med       Date:  2014-11-03       Impact factor: 2.183

4.  Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Authors:  Barbara Triggs-Raine; Tamara Dyck; Kym M Boycott; A Micheil Innes; Carole Ober; Jillian S Parboosingh; Alexis Botkin; Cheryl R Greenberg; Elizabeth L Spriggs
Journal:  Mol Genet Genomic Med       Date:  2016-01-19       Impact factor: 2.183

5.  An Unbiased Estimator of Gene Diversity with Improved Variance for Samples Containing Related and Inbred Individuals of any Ploidy.

Authors:  Alexandre M Harris; Michael DeGiorgio
Journal:  G3 (Bethesda)       Date:  2017-02-09       Impact factor: 3.154

6.  Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Authors:  Carlos R Ferreira; Debra S Regier; Donald W Hadley; P Suzanne Hart; Maximilian Muenke
Journal:  Mol Genet Genomic Med       Date:  2017-07-16       Impact factor: 2.183

7.  With expanded carrier screening, founder populations run the risk of being overlooked.

Authors:  Inge B Mathijssen; Merel C van Maarle; Iris I M Kleiss; Egbert J W Redeker; Leo P Ten Kate; Lidewij Henneman; Hanne Meijers-Heijboer
Journal:  J Community Genet       Date:  2017-05-29

8.  Ancestral haplotype reconstruction in endogamous populations using identity-by-descent.

Authors:  Kelly Finke; Michael Kourakos; Gabriela Brown; Huyen Trang Dang; Shi Jie Samuel Tan; Yuval B Simons; Shweta Ramdas; Alejandro A Schäffer; Rachel L Kember; Maja Bućan; Sara Mathieson
Journal:  PLoS Comput Biol       Date:  2021-02-26       Impact factor: 4.475
  8 in total

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